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}) 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. HPS10 ({617050}) is caused by mutation in the AP3D1 gene ({607246}) on chromosome 19p13.
 

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

Immunophenotypic and Ultrastructural Analysis of Mast Cells in Hermansky-Pudlak Syndrome Type-1: A Possible Connection to Pulmonary Fibrosis.
 

Author(s): Arnold S Kirshenbaum, Glenn Cruse, Avanti Desai, Geethani Bandara, Maarten Leerkes, Chyi-Chia R Lee, Elizabeth R Fischer, Kevin J O'Brien, Bernadette R Gochuico, Kelly Stone, William A Gahl, Dean D Metcalfe

Journal:

 

Hermansky-Pudlak Syndrome type-1 (HPS-1) is an autosomal recessive disorder caused by mutations in HPS1 which result in reduced expression of the HPS-1 protein, defective lysosome-related organelle (LRO) transport and absence of platelet delta granules. Patients with HPS-1 exhibit ...

Last Updated: 27 Jul 2016

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Generation of Hermansky-Pudlak Syndrome Type 1 (HPS1) induced pluripotent stem cells (iPSCs).
 

Author(s): Jean Ann Maguire, Lin Lu, Jason A Mills, Lisa M Sullivan, Alyssa Gagne, Paul Gadue, Deborah L French

Journal: Stem Cell Res. 2016 Mar;16(2):233-5.

 

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by deficiencies in lysosome-related organelles such as melanosomes and platelet-dense granules. The disorder is classified into nine different subtypes (HPS1-HPS9) based on genetic mutations in 9 ...

Last Updated: 27 Jun 2016

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MAP1LC3B overexpression protects against Hermansky-Pudlak syndrome type-1-induced defective autophagy in vitro.
 

Author(s): Saket Ahuja, Lars Knudsen, Shashi Chillappagari, Ingrid Henneke, Clemens Ruppert, Martina Korfei, Bernadette R Gochuico, Saverio Bellusci, Werner Seeger, Matthias Ochs, Andreas Guenther, Poornima Mahavadi

Journal: Am. J. Physiol. Lung Cell Mol. Physiol.. 2016 Mar;310(6):L519-31.

 

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, and some patients with HPS develop pulmonary fibrosis, known as HPS-associated interstitial pneumonia (HPSIP). We have previously reported that HPSIP is associated with severe surfactant accumulation, lysosomal ...

Last Updated: 21 May 2016

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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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