oculocutaneous albinism type IB
ORPHA: 79434
Overview
oculocutaneous albinism that has material basis in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some 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 IB, sourced from HPO and Orphanet clinical annotations.
StrabismusVisual impairmentAbnormal optic nerve morphologyPhotophobiaNystagmusMelanocytic nevusHypopigmentation of the skinAlbinismThickened skinFrecklingBasal cell carcinomaMelanomaHypopigmentation of hairSquamous cell carcinoma of the skinAbnormal retinal pigmentationIris hypopigmentationHypoplasia of the fovea
Classification & Codes
Orphanet Code
ORPHA:79434oculocutaneous albinism type IB
| Orphanet | ORPHA:79434 |
| Treatments | 0 drug(s) |
| Symptoms on record | 17 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO