Differentiating Albinism from other diseases

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Differentiating Albinism from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

Overview

Differential Diagnosis

Differential diagnosis of Albinism
Disease Inheritance Gene mutation Diagnostic criteria
Hermansky-Pudlak syndrome Autosomal recessive Affected genes of lysosome-related organelles
Chediak-Higashi syndrome Autosomal recessive Lysosomal trafficking regulator gene
Griscelli syndrome Autosomal recessive Defects in myosin, myosin receptors, and binding
Waardenburg syndrome type II Autosomal dominant MITF gene mutation
Vici syndrome Autosomal recessive Mutation in ectopic P granules protein 5
Tietz albinism-deafness syndrome Autosomal dominant MITF gene mutation
Angelman syndrome Loss of the maternal copy of chromosome 15q11.2-13 -
Prader-Willi syndrome Loss of the paternal copy of chromosome 15q11.2-13 -

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