Hermansky-Pudlak syndrome due to BLOC-3 deficiency

Orpha code: 231500OMIM code: 614073

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
HPS with pulmonary fibrosis
HPS z włóknieniem płuc
Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-3
Hermansky-Pudlak syndrome with pulmonary fibrosis
ORPHA code
231500
OMIM code
614073
ICD10 code
E70.3
ICD11 code
-

No additional description.

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