KEGG   DISEASE: Ocular albinism
Entry
H00169                      Disease                                
Name
Ocular albinism;
Ocular albinism type I (OA1);
Waardenburg syndrome type II (WS2-OA)
Description
Ocular albinism type I is an X-linked disorder characterized by reduced visual acuity, photophobia, nystagmus, translucent irides, strabismus, hypermetropic refractive errors. Waardenburg syndrome type II is an autosomal dominant ocular albinism.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  9E1Y  Other specified diseases of the visual system
   H00169  Ocular albinism
Gene
(OA1) GPR143 [HSA:4935] [KO:K08470]
(WS2A) MITF [HSA:4286] [KO:K09455]
Other DBs
ICD-11: 9E1Y
ICD-10: E70.3
MeSH: D016117
OMIM: 300500 193510
Reference
PMID:7647783 (GPR143)
  Authors
Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A
  Title
Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome.
  Journal
Nat Genet 10:13-9 (1995)
DOI:10.1038/ng0595-13
Reference
PMID:7874167 (MITF)
  Authors
Tassabehji M, Newton VE, Read AP
  Title
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
  Journal
Nat Genet 8:251-5 (1994)
DOI:10.1038/ng1194-251
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