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.
How do you compare to others with this condition?
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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.org 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.
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 88 free, full-text research articles on human participants.
First 3 results:
Journal: Mol. Biol. Cell. 2013 Jul;24(14):2269-84.
Vesicle biogenesis machinery components such as coat proteins can interact with the actin cytoskeleton for cargo sorting into multiple pathways. It is unknown, however, whether these interactions are a general requirement for the diverse endosome traffic routes. In this study, we ...
Journal:
Hermansky-Pudlak syndrome 2 (HPS2; OMIM #608233) is a rare, autosomal recessive disorder caused by loss-of-function genetic variations affecting AP3B1, which encodes the β3A subunit of the adaptor-related protein complex 3 (AP3). Phenotypic characteristics include reduced pigmentation, ...
Journal: Blood. 2013 Apr;121(15):2943-51.
Genetic disorders of lymphocyte cytotoxicity predispose patients to hemophagocytic lymphohistiocytosis (HLH). Reduced lymphocyte cytotoxicity has been demonstrated in Hermansky-Pudlak syndrome type 2 (HPS2), but only a single patient was reported who developed HLH. Because that patient ...
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 1 free, full-text review articles on human participants.
First 3 results:
Journal: Pediatrics. 2013 Jul;132(1):153-60.
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease that displays genetic heterogeneity; there are 9 known subtypes. HPS is characterized by oculocutaneous albinism, a platelet storage pool deficiency and resultant bleeding diathesis, and lysosomal accumulation of ...
To view other free, full-text review articles on human participants, please click on the link below.
Symptoms, Diagnosis, and Treatment
Clinical Trial Information This information is provided by ClinicalTrials.gov
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.