Albinism classification

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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

Albinism is classified based on genetic mutation. The different types of albinism include, Oculocutaneous albinism(OCA), Hermansky-Pudlak syndrome (HPS),Chediak-Higashi syndrome (CHS), and Ocular albinism (OA).

Classification

• Albinism is classified based on genetic mutation
• The different types and subtypes include:
  • Oculocutaneous albinism(OCA); 4 subtypes
  • Hermansky-Pudlak syndrome (HPS); 8 subtypes
  • Chediak-Higashi syndrome (CHS); 1 type
  • Ocular albinism (OA); 2 types

Albinism Types

Type	Gene Position	Affected Protein
OCA1	11q14-21	Tyrosinase
OCA2	15q11-13	P-protein
OCA3	9p23	Tyrosinase-related protein
OCA4	5p	SLC45A2
HPS1	10q23.1-q23.3	HPS1
HPS2	5q14.1	AP3B1
HPS3	3q24	HPS3
HPS4	22q11.2-q12.2	HPS4
HPS5	11p15-p13	HPS5
HPS6	10q24.3	HPS6
HPS7	6p22.3	Dysbindin protein
HPS8	19q13	BLOC1S3
CHS	1q42.1-q42.2	Lysosomal trafficking regulator
OA (X-linked recessive)	Xp22.3	GPR143
AROA( autosomal recessive)	Not a distinct position	Tyrosinase in some cases;P protein in some cases