Hermansky-Pudlak syndrome due to AP-3 deficiency
ORPHA:183678· ICD-10 E70.3
Definition
A form of Hermansky-Pudlak syndrome (HPS) characterized by oculocutaneous albinism, bleeding diathesis, neutropenia, and in some cases, pulmonary fibrosis, neurologic involvement, or hearing loss.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal