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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hermansky-Pudlak syndrome


Other Names for this Disease
  • HPS
  • Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
  • Delta storage pool disease
  • Hermansky Pudlak syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized by blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion.[1][2] Treatment is symptomatic and supportive.[2]

There are nine different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause.[2] Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7, 8 and 9.[1]
Last updated: 1/15/2016

References

  1. Hermansky-Pudlak syndrome. Genetics Home Reference. May 2014; http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome.
  2. Gahl WA, Huizing M. Hermansky-Pudlak Syndrome. GeneReviews. December 2014; http://www.ncbi.nlm.nih.gov/books/NBK1287/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Hermansky-Pudlak syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
    Dermatologic Manifestations of Hermansky-Pudlak syndrome
    Hermansky Pudlak syndrome - Ophthalmology
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hermansky-Pudlak syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • HPS
  • Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
  • Delta storage pool disease
  • Hermansky Pudlak syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.