Hermansky-Pudlak syndrome 8
ORPHA: 231537
Overview
Hermansky-Pudlak syndrome that has material basis in homozygous mutation in the BLOC1S3 gene on chromosome 19q13
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
Orphanet Code
ORPHA:231537Hermansky-Pudlak syndrome 8
| Orphanet | ORPHA:231537 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO