Hermansky Pudlak syndrome

National Organization for Rare Disorders, Inc.

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It is possible that the main title of the report Hermansky Pudlak syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.


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

Disorder Subdivisions

  • None

General Discussion

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

Supporting Organizations

Genetic and Rare Diseases (GARD) Information Center

PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
Website: http://rarediseases.info.nih.gov/GARD/

Hermansky-Pudlak Syndrome Network, Inc.

One South Road
Oyster Bay, NY 11771-1905
Tel: (516)922-4022
Fax: (516)624-0640
Tel: (800)789-9477
Email: appell@worldnet.att.net or dappell@hpsnetwork.org
Website: http://www.hpsnetwork.org/en

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

Information Clearinghouse
One AMS Circle
Bethesda, MD 20892-3675
Tel: (301)495-4484
Fax: (301)718-6366
Tel: (877)226-4267
Email: NIAMSinfo@mail.nih.gov
Website: http://www.niams.nih.gov/

NIH/National Institute of Child Health and Human Development

31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Fax: (866)760-5947
Tel: (800)370-2943
Email: NICHDInformationResourceCenter@mail.nih.gov
Website: http://www.nichd.nih.gov/

National Association for Parents of Children with Visual Impairments (NAPVI)

P.O. Box 317
Watertown, MA 02272-0317
Tel: (617)972-7441
Fax: (617)972-7444
Tel: (800)562-6265
Email: napvi@perkins.org
Website: http://www.napvi.org

National Organization for Albinism and Hypopigmentation (NOAH)

PO Box 959
East Hempstead, NH 03826-0959
Tel: (603)887-2310
Fax: (800)648-2310
Tel: (800)473-2310
Email: noah@albinism.org
Website: http://www.albinism.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  12/29/1969
Copyright  2015 National Organization for Rare Disorders, Inc.