Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Albinism classification
Introduction
Overview
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
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
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”.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]