Hermansky-Pudlak syndrome

Common Name(s)

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome is a multisystem, genetic condition characterized blood platelet dysfunction with prolonged bleeding, visual impairment, and abnormally light coloring of the skin, hair, and eyes (oculocutaneous albinism). Long-term sun exposure greatly increases the risk of skin damage and skin cancers. Some individuals have colitis, kidney failure, and pulmonary fibrosis. Symptoms of pulmonary fibrosis usually appear during the early thirties and rapidly worsen. This condition is inherited in an autosomal recessive fashion.

There are eight different types of Hermansky-Pudlak syndrome, which can be distinguished by their signs and symptoms and underlying genetic cause. Types 1 and 4 are the most severe forms. Types 1, 2, and 4 are the only types associated with pulmonary fibrosis. Individuals with type 3, 5, or 6 have the mildest symptoms of all the types. Little is known about the signs, symptoms, and severity of types 7 and 8.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Hermansky-Pudlak Syndrome Network, Inc.

Our mission is to gather and provide information, to promote awareness, fund research and to offer support to our members.

Last Updated: 26 Oct 2012

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The Haemophilia Society

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.

Last Updated: 3 Apr 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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Hermansky-Pudlak Syndrome Network, Inc.

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

Last Updated: 26 Oct 2012

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The Haemophilia Society

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/

Last Updated: 3 Apr 2013

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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" returned 88 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

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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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The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.
 

Author(s): Birthe Jessen, Sebastian F N Bode, Sandra Ammann, Subarna Chakravorty, Graham Davies, Jana Diestelhorst, Melissa Frei-Jones, William A Gahl, Bernadette R Gochuico, Matthias Griese, Gillian Griffiths, Gritta Janka, Christoph Klein, Tamara Kögl, Karin Kurnik, Kai Lehmberg, Andrea Maul-Pavicic, Andrew D Mumford, David Pace, Nima Parvaneh, Nima Rezaei, Geneviève de Saint Basile, Annette Schmitt-Graeff, Klaus Schwarz, Gulsun T Karasu, Barbara Zieger, Udo Zur Stadt, Peter Aichele, Stephan Ehl

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 ...

Last Updated: 12 Apr 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" returned 1 free, full-text review articles on human participants. First 3 results:

Hermansky-Pudlak syndrome: health care throughout life.
 

Author(s): Samuel L Seward, William A Gahl

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 ...

Last Updated: 3 Jul 2013

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
 

Status: Recruiting

Condition Summary: Albinism; Intestinal Disease; Kidney Disease; Myocardial Disease; Pulmonary Fibrosis

 

Last Updated: 14 May 2014

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Clinical and Basic Investigations Into Erdheim Chester Disease
 

Status: Recruiting

Condition Summary: Myelofibrosis; Gaucher Disease; Pulmonary Fibrosis; Hermansky-Pudlak Syndrome (HPS); Cancer

 

Last Updated: 14 Mar 2014

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