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

An intractable case of Hermansky-Pudlak syndrome.
 

Author(s): Masaki Kanazu, Toru Arai, Chikatoshi Sugimoto, Masanori Kitaichi, Masanori Akira, Yuko Abe, Yutaka Hozumi, Tamio Suzuki, Yoshikazu Inoue

Journal: Intern. Med.. 2014 ;53(22):2629-34.

 

A 52-year-old Japanese man with congenital amblyopia and oculocutaneous albinism was admitted to our hospital. Chest CT showed reticular opacities and traction bronchiectasis without honeycombing. Specimens obtained by a video-assisted thoracoscopic surgery showed patchy chronic fibrotic ...

Last Updated: 17 Nov 2014

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Hermansky-Pudlak syndrome with nonspecific interstitial pneumonia.
 

Author(s): Kazuki Furuhashi, Noriyuki Enomoto, Tomoyuki Fujisawa, Dai Hashimoto, Naoki Inui, Yutaro Nakamura, Takafumi Suda

Journal: Intern. Med.. 2014 ;53(5):449-53.

 

We herein report a case of Hermansky-Pudlak syndrome (HPS) with nonspecific interstitial pneumonia (NSIP). A 58-year-old Japanese woman presented with oculocutaneous albinism and dyspnea on exertion. A high resolution computed tomography scan showed areas of reticular and ground glass ...

Last Updated: 3 Mar 2014

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Occurrence of nodular lymphocyte-predominant hodgkin lymphoma in hermansky-pudlak type 2 syndrome is associated to natural killer and natural killer T cell defects.
 

Author(s): Luisa Lorenzi, Giovanna Tabellini, William Vermi, Daniele Moratto, Fulvio Porta, Lucia D Notarangelo, Ornella Patrizi, Silvano Sozzani, Genevieve de Saint Basile, Sylvain Latour, David Pace, Silvia Lonardi, Fabio Facchetti, Raffaele Badolato, Silvia Parolini

Journal:

 

Hermansky Pudlak type 2 syndrome (HPS2) is a rare autosomal recessive primary immune deficiency caused by mutations on β3A gene (AP3B1 gene). The defect results in the impairment of the adaptor protein 3 (AP-3) complex, responsible for protein sorting to secretory lysosomes leading ...

Last Updated: 4 Dec 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 2 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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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: 11 Mar 2015

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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: 5 May 2015

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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: 17 Jan 2015

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