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Oculocutaneous albinism type 1A

rare

Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.

Identifiers
MONDO:0008745 OMIM:203100Orphanet:79431
Causal genes
TYR
Part of
Autosomal recessive ocular albinismOculocutaneous albinism type 1
Also known as
albinism, oculocutaneous, type IA · OCA1A · oculocutaneous albinism caused by mutation in TYR · oculocutaneous albinism, tyrosinase-negative · TYR oculocutaneous albinism

Subtypes

All diseases Rare only
Disease Subtypes
Oculocutaneous albinism type 1B

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