oculocutaneous albinism type 3
MeSH: C537189ORPHA: 79433
Overview
oculocutaneous albinism that has material basis in an autosomal recessive mutation of TYRP1 on chromosome 9p23
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with oculocutaneous albinism type 3, sourced from HPO and Orphanet clinical annotations.
Blue iridesNystagmusHypopigmentation of the skinFrecklingRed hairIris hypopigmentationGeneralized hypopigmentation of hairStrabismusWhite eyebrowWhite eyelashesOptic nerve misroutingBlue nevusAbsent skin pigmentation
Classification & Codes
MeSH Code
C537189Orphanet Code
ORPHA:79433oculocutaneous albinism type 3
| MeSH | C537189 |
| Orphanet | ORPHA:79433 |
| Treatments | 0 drug(s) |
| Symptoms on record | 13 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO