Hermansky-Pudlak syndrome due to BLOC-3 deficiency

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Synonyms: HPS with pulmonary fibrosis | Hermansky-Pudlak syndrome with pulmonary fibrosis

Hermansky-Pudlak syndrome with pulmonary fibrosis as a complication includes two types (HPS-1 and HPS-4) of Hermansky-Pudlak syndrome (HPS; see this term) a multi-system disorder characterized by oculocutaneous albinism bleeding diathesis and in some cases pulmonary fibrosis or granulomatous colitis.

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 June 2024

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Hermansky-Pudlak syndrome due to BLOC-3 deficiency?

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Advocacy Organizations

Breathe Support Network

MISSION STATEMENT The Breathe Support Networks mission is to provide support and education for pulmonary fibrosis patients and their families, helping them to better #LIVEwithPF. This includes, but is not limited to: - education about pulmonary fibrosis - guiding patients and families on how to talk to their healthcare team - providing tips to live a healthier more productive life - providing information about other pulmonary fibrosis resources

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

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

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Clinical Trials

For a list of clinical trials in this disease area, please click here.