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Albinism

At a glance

A heterogeneous group of inherited diseases targeting the melanin pigmentary system.

Classification

(Note: Unfortunately, there is no universally accepted classification and the names may differ depending on the source. Particularly for Oculocutaneous Albinism (OCA) the names listed under “Synonyms” do not consistently match with the “Type,” so we recommend using the “Types” rather than the “Synonyms,” except for Hermansky-Pudlak and Chediak-Higashi Syndrome, which are well-established names. In contrast, for Ocular Albinism (OA), the use the “Synonyms” rather than the “Type” seems more consistent.)

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Oculocutaneous Albinism (OCA)
Type Synonym(s) Inheritance
Type IA Tyrosinase-negative albinism Autosomal recessive
Type IB Yellow mutant albinism Autosomal recessive
Type IC Platinum albinism Autosomal recessive
Type II Tyrosinase-positive albinism Autosomal recessive
Type III Rufus albinism; Autosomal recessive
Red oculocutaneous albinism
Type IV Brown albinism Autosomal recessive
Type V Autosomal recessive
Type VIA Hermansky-Pudlak Syndrome Autosomal recessive
Type VIB Chediak-Higashi Syndrome Autosomal recessive
Type VII Autosomal recessive

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 Ocular Albinism (OA)
Type(s) Synonym(s) Inheritance
Type I Nettleship-Falls Syndrome X-linked
Type II Forsius-Ericksson Miyake Syndrome; X-linked
Åland Island Eye Disease
Type III Albinism with sensorineural deafness Autosomal dominant
Waardenburg Syndrome, Type 2A and X-linked
Type IV Tietz Syndrome; Tietz Albinism- Autosomal dominant
Deafness Syndrome;
Hypopigmentation/Deafness of Tietz

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