Hermansky-Pudlak syndrome 1

Common Name(s)

Hermansky-Pudlak syndrome 1

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes ({19:Oh et al., 1998}). Genetic Heterogeneity of Hermansky-Pudlak Syndrome HPS2 ({608233}), which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene ({603401}) on chromosome 5q14. HPS3 ({614072}) is caused by mutation in the HSP3 gene ({606118}) on chromosome 3q24. HPS4 ({614073}) is caused by mutation in the HSP4 gene ({606682}) on chromosome 22q12. HPS5 ({614074}) is caused by mutation in the HPS5 gene ({607521}) on chromosome 11p14. HPS6 ({614075}) is caused by mutation in the HPS6 gene ({607522}) on chromosome 10q24. HPS7 ({614076}) is caused by mutation in the DTNBP1 gene ({607145}) on chromosome 6p22. HPS8 ({614077}) is caused by mutation in the BLOC1S3 gene ({609762}) on chromosome 19q13. HPS9 ({614171}) is caused by mutation in the PLDN gene ({604310}) on chromosome 15q21.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hermansky-Pudlak syndrome 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 1" returned 17 free, full-text research articles on human participants. First 3 results:

Chitinase 3-like-1 and its receptors in Hermansky-Pudlak syndrome-associated lung disease.
 

Author(s): Yang Zhou, Chuan Hua He, Erica L Herzog, Xueyan Peng, Chang-Min Lee, Tung H Nguyen, Mridu Gulati, Bernadette R Gochuico, William A Gahl, Martin L Slade, Chun Geun Lee, Jack A Elias

Journal: J. Clin. Invest.. 2015 Aug;125(8):3178-92.

 

Hermansky-Pudlak syndrome (HPS) comprises a group of inherited disorders caused by mutations that alter the function of lysosome-related organelles. Pulmonary fibrosis is the major cause of morbidity and mortality in patients with subtypes HPS-1 and HPS-4, which both result from defects ...

Last Updated: 4 Aug 2015

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In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
 

Author(s): Yasuhiro Ikawa, Richard Hess, Heidi Dorward, Andrew R Cullinane, Marjan Huizing, Bernadette R Gochuico, William A Gahl, Fabio Candotti

Journal: Mol. Genet. Metab.. 2015 Jan;114(1):62-5.

 

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might ...

Last Updated: 27 Dec 2014

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The WASH complex, an endosomal Arp2/3 activator, interacts with the Hermansky-Pudlak syndrome complex BLOC-1 and its cargo phosphatidylinositol-4-kinase type II╬▒.
 

Author(s): P V Ryder, R Vistein, A Gokhale, M N Seaman, M A Puthenveedu, V Faundez

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 ...

Last Updated: 12 Jul 2013

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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 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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