Синдром Германського-Пудлака, зумовлений дефіцитом BLOC-3
ORPHA:231500· ICD-10 E70.3· Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Визначення(English summary)
Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, pulmonary fibrosis or granulomatous colitis.
- Поширеність
- Unknown
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal