Hermansky-Pudlak syndrome
Synonyms: HPS
Hermansky-Pudlak syndrome (HSP) is a multi-system disorder characterized by oculocutaneous albinism bleeding diathesis and in some cases neutropenia pulmonary fibrosis or granulomatous colitis. HPS comprises eight known disorders (HPS-1 to HPS-8) the majority of which present with the same clinical phenotype to varying degrees of severity.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Hermansky-Pudlak syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Bleeding Disorders Alliance Illinois
The Bleeding Disorders Alliance Illinois exists to improve the quality of life for the inherited bleeding disorders community by supporting individuals and their families with unbiased information and resources which allows them to live healthy and active lives.
Care-for-Rare America Inc
To establish a global alliance in order to identify the genetic causes of rare diseases and develop effective treatments, following a three-stage approach: recognize, understand, cure.
Heather Kirkwood
a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Malachi Holdings PVT LTd
We assist the patients with LSD ( Goucher/ Pompe/Fabri), channel Government consultant clinicians for treatment. currently Sri Lankan Government is struggling with health budgets to continue the ongoing treatments for the patients
Mississippi Metabolics Foundation
Our mission at Mississippi Metabolics Foundation (MMF) is to advocate, educate, and support families in MS affected by genetic metabolic disorders/inborn errors of metabolism (IEM's). MMF promotes initiatives and further advancements in legislation, education, research, clinical trials, studies, therapies, targeted treatments, and eventual cures for IEM’s and all rare diseases.
National Center of Hematology and Blood Transfusion
Treatment of patients with blood diseases,scientific-research works
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Youth And Women for Opportunities Uganda-YWOU
Our mission supports Rare, orphan and undiagnosed diseases diagnosis, care and treatment, education, awareness and empowering health care professionals and patients care takers of rare, orphan and undiagnosed diseases arena in Uganda, build capacity and bridge lack of clinical knowledge and experience and provide search/quest for diagnostic laboratories, I advocate for changes in laws, practices
Clinical Trials
For a list of clinical trials in this disease area, please click here.