ORPHA:664500
Hermansky-Pudlak syndrome due to AP3B1 deficiency
Also called HPS2, Hermansky-Pudlak syndrome due to adaptator related protein complex 3 subunit beta1 deficiency, Hermansky-Pudlak syndrome type 2, Hermansky-Pudlak syndrome with neutropenia due to AP3B1 deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Not documented in Orphadata
- Estimated prevalence
- Not documented in Orphadata
- Rarity class
- Not documented in Orphadata
ORPHA:664500 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.