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 February 2026
Newly diagnosed with
Hermansky-Pudlak syndrome due to BLOC-3 deficiency?
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.
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
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
Hermansky-Pudlak Syndrome Network Inc.
a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
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
Save One Life, Inc
Empowering individuals and families affected by bleeding disorders in developing countries through direct financial assistance and access to medical treatment.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.