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 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

References

  1. Summers CG (2009). "Albinism: classification, clinical characteristics, and recent findings". Optom Vis Sci. 86 (6): 659–62. doi:10.1097/OPX.0b013e3181a5254c. PMID 19390472.
  2. "Albinism - StatPearls - NCBI Bookshelf".

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