Hermansky-Pudlak syndrome
ORPHA:79430· ICD-10 E70.3
Definition
A rare multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. The clinical subtypes of Hermansky-Pudlak syndrome (HPS) often present the same clinical phenotype but have different associated complications with varying degrees of severity.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal