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