KEGG   DISEASE: Oculocutaneous albinism
Entry
H00168                      Disease                                
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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 14 Diseases of the skin
  Genetic and developmental disorders affecting the skin
   EC23  Genetic disorders of skin pigmentation
    H00168  Oculocutaneous albinism
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06028  Dopamine and serotonin metabolism
   H00168  Oculocutaneous albinism
Pathway
hsa00350  Tyrosine metabolism
Network
nt06028 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]
Comment
See also ocular albinism [DS:H00169], which is restricted phenotypically to ocular involvement only.
Other DBs
ICD-11: EC23.20
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
Reference
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
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