Oculocutaneous albinism

rare

Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.

Identifiers: MONDO:0018910 Orphanet:55
Part of: Disorder of melanin metabolism Hereditary skin disorder Hypopigmentation of the skin
Also known as: albinism, oculocutaneous · non-syndromic oculocutaneous albinism · nonsyndromic oculocutaneous albinism · OCA

Subtypes

All diseases Rare only

Disease	ID	Subtypes	Genes
Oculocutaneous albinism type 1	MONDO:0018135	4
Autosomal dominant oculocutaneous albinism	MONDO:0040654
Oculocutaneous albinism type 2	MONDO:0008746
Oculocutaneous albinism type 3	MONDO:0008747		TYRP1
Oculocutaneous albinism type 4	MONDO:0011683		SLC45A2
Oculocutaneous albinism type 5	MONDO:0014127
Oculocutaneous albinism type 6	MONDO:0018264
Oculocutaneous albinism type 7	MONDO:0014070		LRMDA
Oculocutaneous albinism type 8	MONDO:0030899		DCT

Projects

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