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. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- delta storage pool disease
- albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
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.
National Organization for Albinism and Hypopigmentation
PO Box 959
East Hempstead, NH 03826-0959
111 E 59th St
New York, NY 10022-1202
Hermansky-Pudlak Syndrome Network, Inc.
One South Road
Oyster Bay, NY 11771-1905
Email: firstname.lastname@example.org or email@example.com
National Association for Parents of Children with Visual Impairments (NAPVI)
P.O. Box 317
Watertown, MA 02272-0317
NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases
One AMS Circle
Bethesda, MD 20892-3675
NIH/National Institute of Child Health and Human Development
31 Center Dr
Building 31, Room 2A32
Bethesda, MD 20892
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
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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.
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Last Updated: 1/2/2012
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