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
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of amino acid metabolism
   H00168  Oculocutaneous albinism
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
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) C10orf11 [HSA:83938] [KO:K24399]
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
Reference
  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
  Authors
Oetting WS, King RA
  Title
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
  Journal
Reference
  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
  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

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