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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

Genetic and Rare Diseases (GARD) Information Center
- PO Box 8126
- Gaithersburg, MD 20898-8126
- Phone #: 301-251-4925
- 800 #: 888-205-2311
- e-mail: N/A
- Home page: http://rarediseases.info.nih.gov/GARD/
Hermansky-Pudlak Syndrome Network, Inc.
- One South Road
- Oyster Bay, NY 11771-1905
- Phone #: 516-922-4022
- 800 #: 800-789-9477
- e-mail: appell@worldnet.att.net or dappell@hpsnetwork.org
- Home page: http://www.hpsnetwork.org/en
Lighthouse International
- 111 E 59th St
- New York, NY 10022-1202
- Phone #: N/A
- 800 #: 800-829-0500
- e-mail: info@lighthouse.org
- Home page: http://www.lighthouse.org
Madisons Foundation
- PO Box 241956
- Los Angeles, CA 90024
- Phone #: 310-264-0826
- 800 #: N/A
- e-mail: getinfo@madisonsfoundation.org
- Home page: http://www.madisonsfoundation.org
MUMS National Parent-to-Parent Network
- 150 Custer Court
- Green Bay, WI 54301-1243 USA
- Phone #: N/A
- 800 #: N/A
- e-mail: mums@netnet.net
- Home page: http://www.netnet.net/mums/
National Association for Parents of Children with Visual Impairments (NAPVI)
- P.O. Box 317
- Watertown, MA 02272-0317
- Phone #: 617-972-7441
- 800 #: 800-562-6265
- e-mail: napvi@perkins.org
- Home page: http://www.napvi.org
National Organization for Albinism and Hypopigmentation
- PO Box 959
- East Hempstead, NH 03826-0959
- Phone #: 603-887-2310
- 800 #: 800-473-2310
- e-mail: noah@albinism.org
- Home page: http://www.albinism.org
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
- Information Clearinghouse
- One AMS Circle
- Bethesda, MD 20892-3675 USA
- Phone #: 301-495-4484
- 800 #: 877-226-4267
- e-mail: NIAMSinfo@mail.nih.gov
- Home page: http://www.niams.nih.gov/
NIH/National Institute of Child Health and Human Development
- 31 Center Dr
- Building 31, Room 2A32
- MSC2425
- Bethesda, MD 20892
- Phone #: N/A
- 800 #: 800-370-2943
- e-mail: NICHDInformationResourceCenter@mail.nih.gov
- Home page: http://www.nichd.nih.gov/

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