Hermansky-Pudlak syndrome due to BLOC-3 deficiency
ORPHA:231500· ICD-10 E70.3
Definition
A form of Hermansky-Pudlak syndrome characterized by oculocutaneous albinism, bleeding diathesis and pulmonary fibrosis or granulomatous colitis, but without neutropenia. Hermansky-Pudlak syndrome due to BLOC-3 deficiency has a severe prognosis and includes two genetic etiologies (HPS1 and HPS4).
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal