Hermansky-Pudlak syndrome due to BLOC-1 deficiency
ORPHA:231531· 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 or immunodeficiency, but no pulmonary fibrosis.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive