Hermansky-Pudlak syndrome
Common Name(s)
Hermansky-Pudlak syndrome
Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Hermansky-Pudlak syndrome" for support, advocacy or research.
Our mission is to gather and provide information, to promote awareness, fund research and to offer support to our members.
To ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.
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Advocacy and Support Organizations
Condition Specific Organizations
Following organizations serve the condition "Hermansky-Pudlak syndrome" for support, advocacy or research.
Our mission is to gather and provide information, to promote awareness, fund research and to offer support to our members.
http://www.hermansky-pudlak.orgTo ensure that people affected by bleeding disorders have the freedom to make choices and seize opportunities To enable people affected by bleeding disorders to better understand and manage their condition or situation. To enable people affected by bleeding disorders to participate in decision making and service delivery. To influence policy and improve services to people with bleeding disorders.
http://www.haemophilia.org.uk/Recommended Apps
Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.
Finding the right clinical trial for Hermansky-Pudlak syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.
Scientific Literature
Articles from the PubMed Database
Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Hermansky-Pudlak syndrome" returned 119 free, full-text research articles on human participants.
First 3 results:
Journal:
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated with defects in Biogenesis of Lysosome-related ...
Journal: Mol. Genet. Metab.. 2017 04;120(4):378-383.
Hermansky-Pudlak syndrome (HPS) is a rare inherited disorder with ten reported genetic types; each type has defects in subunits of either Adaptor Protein-3 complex or Biogenesis of Lysosome-related Organelles Complex (BLOC)-1, -2, or -3. Very few patients with BLOC-1 deficiency (HPS-7, ...
Journal: Br. J. Haematol.. 2017 Jan;176(1):118-123.
Hermansky-Pudlak syndrome (HPS) encompasses disorders with abnormal function of lysosomes and lysosome-related organelles, and some patients who develop immunodeficiency. The basic mechanisms contributing to immune dysfunction in HPS are ill-defined. We analysed natural killer (NK) ...
To view other free, full-text articles on human participants, please click on the link below.
Reviews from the PubMed Database
Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Hermansky-Pudlak syndrome" returned 6 free, full-text review articles on human participants.
First 3 results:
Journal: Ann Am Thorac Soc. 2016 Oct;13(10):1839-1846.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive genetic disorder characterized by oculocutaneous albinism and a bleeding diathesis due to platelet dysfunction. More than 50% of cases worldwide are diagnosed on the Caribbean island of Puerto Rico. Genetic testing plays ...
Journal: Clin. Chest Med.. 2016 09;37(3):505-11.
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diatheses, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis shows ...
Journal: Intern. Med.. 2014 ;53(23):2705-9.
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
https://ghr.nlm.nih.gov/gene/HPS6
https://ghr.nlm.nih.gov/gene/HPS1
https://ghr.nlm.nih.gov/gene/HPS5
https://ghr.nlm.nih.gov/gene/HPS3
https://ghr.nlm.nih.gov/gene/HPS4
https://ghr.nlm.nih.gov/gene/BLOC1S6
https://ghr.nlm.nih.gov/gene/AP3B1
https://ghr.nlm.nih.gov/gene/BLOC1S3
https://ghr.nlm.nih.gov/gene/AP3D1
https://ghr.nlm.nih.gov/gene/DTNBP1
https://ghr.nlm.nih.gov/about/support-advocacy-groups
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Clinical Trial Information This information is provided by ClinicalTrials.gov
Condition Summary: Hermansky Pudlak Syndrome
Condition Summary: Albinism; Intestinal Disease; Kidney Disease; Myocardial Disease; Pulmonary Fibrosis
Condition Summary: Myelofibrosis; Gaucher Disease; Pulmonary Fibrosis; Hermansky-Pudlak Syndrome (HPS); Cancer

Finding the right clinical trial for Hermansky-Pudlak syndrome can be challenging. However, with TrialsFinder (which uses the Reg4ALL database and privacy controls by Private Access), you can permit researchers to let you know opportunities to consider - all without revealing your identity.