oculocutaneous albinism type IA
ORPHA: 79431
Overview
oculocutaneous albinism that has material basis in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity
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 IA, sourced from HPO and Orphanet clinical annotations.
Visual impairmentAbnormal optic nerve morphologyPhotophobiaNystagmusAbnormality of visual evoked potentialsHyperkeratosisHypopigmentation of the skinAlbinismThickened skinOcular albinismFrecklingBasal cell carcinomaHypopigmentation of hairSquamous cell carcinoma of the skinIris hypopigmentationHypoplasia of the fovea
Classification & Codes
Orphanet Code
ORPHA:79431oculocutaneous albinism type IA
| Orphanet | ORPHA:79431 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO