Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-2
ORPHA:231512· ICD-10 E70.3· Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Визначення(English summary)
Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal