Hermansky-Pudlak syndrome

Common Name(s)

Hermansky-Pudlak syndrome

Hermansky-Pudlak syndrome (HPS) is a genetic condition that causes oculocutaneous albinism, bleeding problems, and lung abnormalities. The main feature of HPS, oculocutaneous albinism, causes abnormal light coloring (pigmentation) of the skin, hair, and eyes. Individuals with HPS tend to have a high risk of skin damage and skin cancer after prolonged sun exposure. Oculocutaneous albinism also affects the pigment in the eyes and may cause reduced vision and sensitivity to light (photophobia). These vision problems start in childhood and usually remain stable throughout life. Abnormal blood clotting (coagulation) leads to prolonged bleeding and frequent bruising. Some individuals with HPS have a lung condition called pulmonary fibrosis, which causes scar tissue to form in the lungs and can lead to breathing problems. Less common symptoms include inflammation of the large intestine and kidney failure. There are nine different types of HPS, with type 1 and type 4 being the most severe and types 3, 5, and 6 being the most mild.

HPS is caused by changes (mutations) in one of nine different genes. Mutations in the HPS1 gene or HPS3 gene are the cause of most cases of HPS. HPS is inherited in an autosomal recessive manner, which means a person must have a mutation in both copies of a gene in order to have the condition.

Features of HPS are usually present at birth, so it is usually suspected in a baby with light skin, hair, and eye color. In mild cases, the condition may not be diagnosed until later in life. Genetic testing is used to confirm the diagnosis. Although there is no cure for HPS, there are options to help prevent complications, such as avoiding exposure to sunlight by using sunscreen and sunglasses as well as avoiding medication that thins the blood, such as aspirin. If your child has been diagnosed with HPS, talk to their doctor about all treatment options. Support groups are available for more information and support.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

Logo
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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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" returned 116 free, full-text research articles on human participants. First 3 results:

Generation of Hermansky Pudlak syndrome type 2 (HPS2) induced pluripotent stem cells (iPSCs).
 

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

Journal: Stem Cell Res. 2016 Mar;16(2):287-9.

 

Hermansky-Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive disorder resulting from functional mutations in the adaptor-related protein complex 3, beta 1 subunit (AP3B1) gene. This gene plays a role in organelle biogenesis associated with melanosomes, platelet dense granules, ...

Last Updated: 27 Jun 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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Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.
 

Author(s): Sandra Ammann, Ansgar Schulz, Ingeborg Krägeloh-Mann, Nele M G Dieckmann, Klaus Niethammer, Sebastian Fuchs, Katja Martina Eckl, Roswitha Plank, Roland Werner, Janine Altmüller, Holger Thiele, Peter Nürnberg, Julia Bank, Anne Strauss, Horst von Bernuth, Udo Zur Stadt, Samantha Grieve, Gillian M Griffiths, Kai Lehmberg, Hans Christian Hennies, Stephan Ehl

Journal: Blood. 2016 Feb;127(8):997-1006.

 

Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing ...

Last Updated: 26 Feb 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" returned 4 free, full-text review articles on human participants. First 3 results:

An autopsy case of Hermansky-Pudlak syndrome: a case report and review of the literature on treatment.
 

Author(s): Tatsuhiko Harada, Yuji Ishimatsu, Shota Nakashima, Shiro Miura, Masaomi Tomonaga, Tomoyuki Kakugawa, Shintaro Hara, Noriho Sakamoto, Chiharu Yoshii, Hiroshi Mukae, Yoshinori Kawabata, Shigeru Kohno

Journal: Intern. Med.. 2014 ;53(23):2705-9.

 

Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder, the most common complication of which influencing the prognosis is pulmonary fibrosis. In the present report, we describe an autopsy case of a Japanese woman with HPS. The patient was diagnosed at 50 years of age based on ...

Last Updated: 2 Dec 2014

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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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The cell biology of Hermansky-Pudlak syndrome: recent advances.
 

Author(s): Santiago M Di Pietro, Esteban C Dell'Angelica

Journal: Traffic. 2005 Jul;6(7):525-33.

 

Hermansky-Pudlak syndrome (HPS) defines a group of at least seven autosomal recessive disorders characterized by albinism and prolonged bleeding. These manifestations arise from defects in the biogenesis of lysosome-related organelles, including melanosomes and platelet dense granules. ...

Last Updated: 8 Jun 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Longitudinal Study of Hermansky-Pudlak Syndrome Pulmonary Fibrosis
 

Status: Recruiting

Condition Summary: Hermansky Pudlak Syndrome

 

Last Updated: 23 Jan 2017

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Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome
 

Status: Recruiting

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

 

Last Updated: 15 Mar 2017

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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: 24 Jan 2017

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