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Hermansky Pudlak syndrome

Abstract

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NORD is very grateful to William A. Gahl, MD, PhD, Clinical Director, National Human Genome Research Institute; Head, Section on Human Biochemical Genetics, Medical Genetics Branch; Head, Intramural Program, Office of Rare Diseases, National Institutes of Health, for assistance in the preparation of this report.

Synonyms of Hermansky Pudlak syndrome

  • albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
  • delta storage pool disease
  • HPS

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Hermansky-Pudlak syndrome is a rare, hereditary disorder that consists of three characteristics: lack of skin pigmentation (albinism), blood platelet dysfunction with prolonged bleeding, and visual impairment. Some patients have lung fibrosis, colitis, or an abnormal storage of a fatty-like substance (ceroid lipofuscin) in various tissues of the body.

Organizations related to Hermansky Pudlak syndrome

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