The information contained in the Organizational Database (ODB) is provided for informational purposes only. There is no implied endorsement by NORD. NORD does not promote or endorse participation in any specific organization. The information is subject to change without notice. Every effort is made to ensure that the details for each entry are as current as possible.
Hermansky-Pudlak Syndrome Network, Inc.
a/k/a: HPS Network, Inc.
One South Road
Oyster Bay, NY 11771-1905
email@example.com or firstname.lastname@example.org
The Hermansky-Pudlak Syndrome (HPS) Network is an advocacy organization for individuals and families affected by Hermansky-Pudlak syndrome. HPS is an autosomal recessive inborn error of metabolism characterized by albinism, visual impairment, and a bleeding disorder caused by dysfunctional platelets. Presently, the genes associated with HPS1 through HPS7 have been identified, and identification of more genes is expected. HPS1 and HPS4 involve pulmonary fibrosis, which can become life threatening by middle age. Granulomatous inflammatory bowel disease similar to Crohn's disease occurs in approximately 15% of individuals across all mutations. The HPS Network, established in 1992, is dedicated to networking individuals, physicians and researchers for the purpose of education and research. The network maintains a registry and creates educational materials and newsletters. Annual conferences, international meetings and presentations are among some of the outreach priorities. A cure is the ultimate goal.
The National Organization for Rare Disorders (NORD) web site, its databases, and the contents thereof are copyrighted by NORD. No part of the NORD web site, databases, or the contents may be copied in any way, including but not limited to the following: electronically downloading, storing in a retrieval system, or redistributing for any commercial purposes without the express written permission of NORD. Permission is hereby granted to print one hard copy of the information on an individual disease for your personal use, provided that such content is in no way modified, and that credit for the source (NORD) and NORD’s copyright notice are included on the printed copy. Any other electronic reproduction or other printed versions are strictly prohibited.
NORD's Rare Disease Information Database is copyrighted and may not be published without the written consent of NORD.