ORPHA:183678
Hermansky-Pudlak syndrome due to AP-3 deficiency
Also called Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency, Hermansky-Pudlak syndrome with neutropenia
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Neonatal
- Estimated prevalence
- <1 / 1 000 000 (Worldwide)
- Rarity class
- <1 / 1 000 000
ORPHA:183678 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.