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Condition report · Metabolic

Hermansky-Pudlak Syndrome

A rare, inherited disorder characterized by oculocutaneous albinism, a bleeding diathesis due to platelet dysfunction, and lysosomal accumulation of ceroid-like material which can lead to organ damage such as pulmonary fibrosis and granulomatous colitis.

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The condition we analyse

Autosomal recessive

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.

Genes analysed

Also known as

HPS

Includes 14 related subtypes ↓
  • Hermansky-Pudlak syndrome 1
  • Hermansky-Pudlak syndrome 10
  • Hermansky-Pudlak syndrome 11
  • Hermansky-Pudlak syndrome 2
  • Hermansky-Pudlak syndrome 3
  • Hermansky-Pudlak syndrome 4
  • Hermansky-Pudlak syndrome 5
  • Hermansky-Pudlak syndrome 6
  • Hermansky-Pudlak syndrome 7
  • Hermansky-Pudlak syndrome 8
  • Hermansky-Pudlak syndrome 9
  • Hermansky-Pudlak syndrome with pulmonary fibrosis
  • Hermansky-Pudlak syndrome without pulmonary fibrosis
  • Kotzot-Richter syndrome
MONDO:0019312Orphanet 79430MedGen 36313

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