H00168 | |
H number | H00168 |
Name | Oculocutaneous albinism |
Description | Oculocutaneous albinism (OCA) is a genetically heterogeneous congenital disorder of melanin biosynthesis characterized by decreased or absent pigmentation in the hair, skin, and eyes. |
Category | Inherited metabolic disorder |
Network | nt06028(H00168) Dopamine and serotonin metabolism |
Gene | (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] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | See also ocular albinism [DS:H00169], which is restricted phenotypically to ocular involvement only. |
Other DBs | ICD-11: EC23.20 ICD-10: E70.3 MeSH: D016115 OMIM: 203100 606952 203200 203290 606574 113750 615179 619165 |
Reference | PMID:17980020 AUTHORS Gronskov K, Ek J, Brondum-Nielsen K TITLE Oculocutaneous albinism. JOURNAL Orphanet J Rare Dis 2:43 (2007) DOI:10.1186/1750-1172-2-43 PMID:10094567 AUTHORS Oetting WS, King RA TITLE Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. JOURNAL 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) AUTHORS Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S TITLE Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. JOURNAL Biochem Biophys Res Commun 164:990-6 (1989) DOI:10.1016/0006-291x(89)91767-1 PMID:18680187 (OCA2, OCA3) AUTHORS Chiang PW, Fulton AB, Spector E, Hisama FM TITLE Synergistic interaction of the OCA2 and OCA3 genes in a family. JOURNAL Am J Med Genet A 146A:2427-30 (2008) DOI:10.1002/ajmg.a.32453 PMID:11574907 (OCA4) AUTHORS Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH TITLE Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. JOURNAL Am J Hum Genet 69:981-8 (2001) DOI:10.1086/324340 PMID:23985994 (OCA6) AUTHORS 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 TITLE SLC24A5 mutations are associated with non-syndromic oculocutaneous albinism. JOURNAL J Invest Dermatol 134:568-571 (2014) DOI:10.1038/jid.2013.360 PMID:23395477 (OCA7) AUTHORS Gronskov K, Dooley CM, Ostergaard E, Kelsh RN, Hansen L, Levesque MP, Vilhelmsen K, Mollgard K, Stemple DL, Rosenberg T TITLE Mutations in c10orf11, a melanocyte-differentiation gene, cause autosomal-recessive albinism. JOURNAL Am J Hum Genet 92:415-21 (2013) DOI:10.1016/j.ajhg.2013.01.006 PMID:33100333 (OCA8) AUTHORS 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 TITLE Dopachrome tautomerase variants in patients with oculocutaneous albinism. JOURNAL Genet Med 23:479-487 (2021) DOI:10.1038/s41436-020-00997-8 |