Hermansky-Pudlak syndrome due to BLOC-2 deficiency
ORPHA:231512· ICD-10 E70.3
Definition
A form of Hermansky-Pudlak syndrome characterized by syndromic ocular or oculocutaneous albinism which may present with bleeding diathesis and, in some cases, granulomatous colitis, but without neutropenia or pulmonary fibrosis as a complication.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal