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 Hermansky-Pudlak syndrome can also be caused by homozygous or compound heterozygous mutations in several other genes. HPS2 ({608233}), which includes immunodeficiency in its phenotype, is caused by mutation in the AP3B1 gene ({603401}) on chromosome 5q14.1. HPS3 ({614072}) is caused by mutation in a gene on chromosome 3q24 ({606118}); HPS4 ({614073}) is caused by mutation in a gene on chromosome 22q11.2-q12 ({606682}); HPS5 ({614074}) is caused by mutation in a gene on chromosome 11p14 ({607521}); HPS6 ({614075}) is caused by mutation in a gene on chromosome 10q24 ({607522}); 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 19q13.32; and HPS9 ({614171}) is caused by mutation in the PLDN gene ({604310}) on chromosome 15q21.1.
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

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.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 18 free, full-text research articles on human participants. First 3 results:

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

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

Go To URL
Defective HIV-1 particle assembly in AP-3-deficient cells derived from patients with Hermansky-Pudlak syndrome type 2.
 

Author(s): Ling Liu, Jessica Sutton, Elvin Woodruff, Fernando Villalta, Paul Spearman, Xinhong Dong

Journal: J. Virol.. 2012 Oct;86(20):11242-53.

 

Adaptor protein complex 3 (AP-3) is a heterotetramer that is involved in signal-mediated protein sorting to endosomal-lysosomal organelles. AP-3 deficiency in humans, induced by mutations in the AP3B1 gene, which encodes the β3A subunit of the AP-3 complex, results in Hermansky-Pudlak ...

Last Updated: 21 Sep 2012

Go To URL
A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.
 

Author(s): Andrew R Cullinane, James A Curry, Gretchen Golas, James Pan, Carmelo Carmona-Rivera, Richard A Hess, James G White, Marjan Huizing, William A Gahl

Journal: Pigment Cell Melanoma Res. 2012 Sep;25(5):584-91.

 

Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes ...

Last Updated: 28 Aug 2012

Go To URL

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.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.