Hermansky-Pudlak syndrome 5

Common Name(s)

Hermansky-Pudlak syndrome 5

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Hermansky-Pudlak syndrome 5" 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 5" returned 3 free, full-text research articles on human participants. First 3 results:

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.
 

Author(s): Matthew L Jones, Sherina L Murden, Claire Brooks, Viv Maloney, Richard A Manning, Kimberly C Gilmour, Vandana Bharadwaj, Josu de la Fuente, Subarna Chakravorty, Andrew D Mumford

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, ...

Last Updated: 27 May 2013

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Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5.
 

Author(s): Amanda Helip-Wooley, Wendy Westbroek, Heidi M Dorward, Amy Koshoffer, Marjan Huizing, Raymond E Boissy, William A Gahl

Journal: J. Invest. Dermatol.. 2007 Jun;127(6):1471-8.

 

Hermansky-Pudlak syndrome (HPS) is a disorder of lysosome-related organelle biogenesis resulting in melanosome dysfunction and absent platelet dense bodies. HPS patients have oculocutaneous albinism, bruising, and bleeding. HPS-5 results from deficiency of the HPS5 protein, a component ...

Last Updated: 15 May 2007

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Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism.
 

Author(s): B Gwynn, S L Ciciotte, S J Hunter, L L Washburn, R S Smith, S G Andersen, R T Swank, E C Dell'Angelica, J S Bonifacino, E M Eicher, L L Peters

Journal: Blood. 2000 Dec;96(13):4227-35.

 

Defects in a triad of organelles (melanosomes, platelet granules, and lysosomes) result in albinism, prolonged bleeding, and lysosome abnormalities in Hermansky-Pudlak syndrome (HPS). Defects in HPS1, a protein of unknown function, and in components of the AP-3 complex cause some, ...

Last Updated: 21 Dec 2000

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

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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