Hermansky-Pudlak syndrome

Orpha code: 79430OMIM code: 614171

Definition

Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and, in some cases, neutropenia, pulmonary fibrosis, or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8), the majority of which present with the same clinical phenotype to varying degrees of severity.

Disease data
Classification

Disease

Synonyms
HPS
HPS
ORPHA code
79430
OMIM code
614171
ICD10 code
E70.3
ICD11 code
EC23.20

No additional description.

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