Hermansky Pudlak syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Hermansky Pudlak syndrome is not the name you expected.
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.
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: firstname.lastname@example.org or email@example.com
- 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: firstname.lastname@example.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: email@example.com
- Website: http://www.albinism.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, 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.
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.
Last Updated: 4/27/2015
Copyright 2015 National Organization for Rare Disorders, Inc.
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