Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Synonyms: HPS without pulmonary fibrosis | Hermansky-Pudlak syndrome without pulmonary fibrosis
Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3 HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS; see this term) a multi-system disorder characterized by ocular or oculocutaneous albinism bleeding diathesis and in some cases granulomatous colitis.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
Hermansky-Pudlak syndrome due to BLOC-2 deficiency?
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Hermansky-pudlak Syndrome Network
a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding.
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
Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).
Louisiana Metabolic Disorders Coalition
We support, educate, and advocate for patients & families affected by metabolic disorders.
Hemophilia Foundation of Southern California
“Improving the quality of life and building community for those living with inherited bleeding disorders in Southern California.”
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.
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.
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.
Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
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