Hermansky-Pudlak syndrome due to BLOC-2 deficiency

Orpha code: 231512OMIM code: 614075

Definition

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.

Disease data
Classification

Clinical subtype

Synonyms
HPS without pulmonary fibrosis
HPS bez włóknienia płuc
Zespół Hermanskiego-Pudlaka spowodowany niedoborem BLOC-2
Hermansky-Pudlak syndrome without pulmonary fibrosis
ORPHA code
231512
OMIM code
614075
ICD10 code
E70.3
ICD11 code
-

No additional description.

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