Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Hermansky Pudlak Syndrome


Synonyms of Hermansky Pudlak Syndrome
  • Albinism with Hemorrhagic Diathesis and Pigmented Reticuloendothelial Cells
  • Delta Storage Pool Disease
  • HPS

Disorder Subdivisions



    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
    • Blind Children's Fund
      311 W. Broadway
      Mt. Pleasant MI 48858
      Phone #: 989-779-9966
      800 #: --
      e-mail: bcf@blindchildrensfund.org
      Home page: http://www.blindchildrensfund.org
    • 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.hermansky-pudlak.org
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • 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
    • NIH/National Arthritis and Musculoskeletal and Skin Diseases Information Clearinghouse
      1 AMS Circle
      Bethesda MD 20892-3675
      Phone #: 301-495-4484
      800 #: 877-226-4267
      e-mail: NIAMSinfo@mail.nih.gov
      Home page: http://www.niams.nih.gov/Health_Info
    • NIH/National Institute of Child Health and Human Development
      31 Center Dr
      Bethesda MD 20892
      Phone #: 301-496-5133
      800 #: --
      e-mail: N/A
      Home page: http://www.nichd.nih.gov/
    • National Association for Parents of Children with Visual Impairments (NAPVI)
      P.O. Box 317
      Watertown MA 02472
      Phone #: 617-972-7441
      800 #: 800-562-6265
      e-mail: napvi@perkins.org
      Home page: http://www.napvi.org
    • National Association for Visually Handicapped
      22 West 21st Street
      New York NY 10010
      Phone #: 212-889-3141
      800 #: --
      e-mail: staff@navh.org
      Home page: http://www.navh.org



    For a Complete Report

    This is an abstract of a report from the National Organization for Rare Disorders, Inc. ? (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html