| H00168 | |
| H番号 | H00168 |
| 名称 | 眼皮膚白皮症 |
| 概要 | Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. |
| カテゴリ | 先天性代謝異常症 |
| ネットワーク | nt06028(H00168) Dopamine and serotonin metabolism |
| 病因遺伝子 | (OCA1) TYR [HSA:7299] [KO:K00505] (OCA2) OCA2 [HSA:4948] [KO:K24200] (OCA2) MC1R [HSA:4157] [KO:K04199] (OCA3) TYRP1 [HSA:7306] [KO:K00506] (OCA4) SLC45A2 [HSA:51151] [KO:K15378] (OCA6) SLC24A5 [HSA:283652] [KO:K13753] (OCA7) LRMDA [HSA:83938] [KO:K24399] (OCA8) DCT [HSA:1638] [KO:K01827] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also ocular albinism [DS:H00169], which is restricted phenotypically to ocular involvement only. |
| リンク | ICD-11: EC23.20 ICD-10: E70.3 MeSH: D016115 OMIM: 203100 606952 203200 203290 606574 113750 615179 619165 |
| 文献 | PMID:17980020 著者 Gronskov K, Ek J, Brondum-Nielsen K タイトル Oculocutaneous albinism. 雑誌 Orphanet J Rare Dis 2:43 (2007) DOI:10.1186/1750-1172-2-43 PMID:10094567 著者 Oetting WS, King RA タイトル Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. 雑誌 Hum Mutat 13:99-115 (1999) DOI:10.1002/(SICI)1098-1004(1999)13:2<99::AID-HUMU2>3.0.CO;2-C PMID:2511845 (OCA1) 著者 Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S タイトル Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. 雑誌 Biochem Biophys Res Commun 164:990-6 (1989) DOI:10.1016/0006-291x(89)91767-1 PMID:18680187 (OCA2, OCA3) 著者 Chiang PW, Fulton AB, Spector E, Hisama FM タイトル Synergistic interaction of the OCA2 and OCA3 genes in a family. 雑誌 Am J Med Genet A 146A:2427-30 (2008) DOI:10.1002/ajmg.a.32453 PMID:11574907 (OCA4) 著者 Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH タイトル Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. 雑誌 Am J Hum Genet 69:981-8 (2001) DOI:10.1086/324340 PMID:23985994 (OCA6) 著者 Morice-Picard F, Lasseaux E, Francois S, Simon D, Rooryck C, Bieth E, Colin E, Bonneau D, Journel H, Walraedt S, Leroy BP, Meire F, Lacombe D, Arveiler B タイトル SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. 雑誌 J Invest Dermatol 134:568-571 (2014) DOI:10.1038/jid.2013.360 PMID:23395477 (OCA7) 著者 Gronskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mollgard K, Stemple DL, Rosenberg T タイトル Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. 雑誌 Am J Hum Genet 92:415-21 (2013) DOI:10.1016/j.ajhg.2013.01.006 PMID:33100333 (OCA8) 著者 Pennamen P, Tingaud-Sequeira A, Gazova I, Keighren M, McKie L, Marlin S, Gherbi Halem S, Kaplan J, Delevoye C, Lacombe D, Plaisant C, Michaud V, Lasseaux E, Javerzat S, Jackson I, Arveiler B タイトル Dopachrome tautomerase variants in patients with oculocutaneous albinism. 雑誌 Genet Med 23:479-487 (2021) DOI:10.1038/s41436-020-00997-8 |