Hermansky-Pudlak syndrome 2
MeSH: C537709ORPHA: 183678
Overview
Hermansky-Pudlak syndrome that has material basis in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Classification & Codes
MeSH Code
C537709Orphanet Code
ORPHA:183678Hermansky-Pudlak syndrome 2
| MeSH | C537709 |
| Orphanet | ORPHA:183678 |
| Treatments | 0 drug(s) |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO