Niemann-Pick disease

Common Name(s)

Niemann-Pick disease, Sphingomyelin/cholesterol lipidosis

Niemann-Pick disease is an inherited condition involving lipid metabolism, which is the breakdown, transport, and use of fats and cholesterol in the body. In people with this condition, abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. Niemann-Pick disease type A appears during infancy and is characterized by an enlarged liver and spleen (hepatosplenomegaly), failure to gain weight and grow at the expected rate (failure to thrive), and progressive deterioration of the nervous system. Due to the involvement of the nervous system, Niemann-Pick disease type A is also known as the neurological type. There is currently no effective treatment for this condition and those who are affected generally do not survive past early childhood. Niemann-Pick disease type A is caused by mutations in the SMPD1 gene. It is inherited in an autosomal recessive pattern.  
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease" for support, advocacy or research.

National Niemann-Pick Disease Foundation, Inc.

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are interested in fighting Niemann-Pick disease.

Last Updated: 29 Apr 2014

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

Last Updated: 13 May 2014

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Niemann-Pick Disease Group (UK)

The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research. Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy. Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference. Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award.

Last Updated: 12 Nov 2012

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease" for support, advocacy or research.

National Niemann-Pick Disease Foundation, Inc.

The National Niemann-Pick Disease Foundation, Inc. (NNPDF) is an international, voluntary, nonprofit organization made up of parents, medical and educational professionals, friends, relatives and others who are interested in fighting Niemann-Pick disease.

http://www.nnpdf.org

Last Updated: 29 Apr 2014

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National Tay-Sachs & Allied Diseases Association, Inc.

The mission of the National-Tay Sachs & Allied Diseases Association is to lead the fight to treat and cure Tay-Sachs, Canavan and related genetic diseases and to support affected families and individuals in leading fuller lives.

http://www.ntsad.org

Last Updated: 13 May 2014

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Niemann-Pick Disease Group (UK)

The aim of the Niemann-Pick Disease Group (UK) is to make a positive difference to families affected by the disease through the provision of Care, Information and Research. Care takes the form of providing a central office with a 24hour telephone help line and funding a dedicated Clinical Nurse Specialist to give support through advice, counselling, specialist clinics and advocacy. Information is provided through leaflets, newsletters, family newsbulletin, family directories, care manuals, our website and the Annual Family Conference. Research is in collaboration with other organisations and support groups. Our focus is maintained by a Research Co-ordinator and we offer an annual memorial award.

http://www.niemannpick.org.uk

Last Updated: 12 Nov 2012

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General Support Organizations

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General Resources

National Niemann-Pick Disease Foundation Web site

This Web site has been developed to be a supportive and educational tool for individuals interested in learning more about Niemann-Pick Disease (NPD), and for those who have a loved one or family member diagnosed with NPD.

Updated 29 Apr 2014

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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 "Niemann-Pick disease" returned 171 free, full-text research articles on human participants. First 3 results:

Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
 

Author(s): Anneliese O Speak, Danielle Te Vruchte, Lianne C Davis, Anthony J Morgan, David A Smith, Nicole M Yanjanin, Louise Simmons, Ralf Hartung, Heiko Runz, Eugen Mengel, Michael Beck, Jackie Imrie, Elizabeth Jacklin, James E Wraith, Christian Hendriksz, Robin Lachmann, Celine Cognet, Rohini Sidhu, Hideji Fujiwara, Daniel S Ory, Antony Galione, Forbes D Porter, Eric Vivier, Frances M Platt

Journal: Blood. 2014 Jan;123(1):51-60.

 

Niemann-Pick type C (NPC) is a neurodegenerative lysosomal storage disorder caused by defects in the lysosomal proteins NPC1 or NPC2. NPC cells are characterized by reduced lysosomal calcium levels and impaired sphingosine transport from lysosomes. Natural killer (NK) cells kill virally ...

Last Updated: 3 Jan 2014

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Niemann-Pick type C1 patient-specific induced pluripotent stem cells display disease specific hallmarks.
 

Author(s): Michaela Trilck, Rayk Hübner, Philip Seibler, Christine Klein, Arndt Rolfs, Moritz J Frech

Journal:

 

Niemann-Pick type C1 disease (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. In this lysosomal storage disorder the intracellular transport and sequestration of several lipids like cholesterol is severely impaired, resulting in an accumulation ...

Last Updated: 15 Nov 2013

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[Allogeneic hematopoietic stem cell transplantation for the treatment of Niemann-Pick disease type A: a case report].
 

Author(s): Jing Pan, Zhe Geng, Hua Jiang

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Sep;15(9):782-4.

 

Last Updated: 16 Sep 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 "Niemann-Pick disease" returned 24 free, full-text review articles on human participants. First 3 results:

Niemann-Pick disease type C symptomatology: an expert-based clinical description.
 

Author(s): Eugen Mengel, Hans-Hermann Klünemann, Charles M Lourenço, Christian J Hendriksz, Frédéric Sedel, Mark Walterfang, Stefan A Kolb

Journal:

 

Niemann-Pick disease type C (NP-C) is a rare, progressive, irreversible disease leading to disabling neurological manifestations and premature death. The estimated disease incidence is 1:120,000 live births, but this likely represents an underestimate, as the disease may be under-diagnosed ...

Last Updated: 16 Jan 2014

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Genetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type C.
 

Author(s): Manuel E Lopez, Matthew P Scott

Journal: Dis Model Mech. 2013 Sep;6(5):1089-100.

 

Understanding neurodegenerative disease progression and its treatment requires the systematic characterization and manipulation of relevant cell types and molecular pathways. The neurodegenerative lysosomal storage disorder Niemann-Pick disease type C (NPC) is highly amenable to genetic ...

Last Updated: 18 Sep 2013

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[Adult psychiatric aspects of Niemann-Pick disease].
 

Author(s): Gábor Faludi, Xénia Gonda, Péter Döme

Journal: Neuropsychopharmacol Hung. 2013 Jun;15(2):95-103.

 

Niemann-Pick disease (NPD) is a group of distinct rare disorders (i.e. NPD-A; NPD-B; NPD-C) - with autosomal recessive inheritance pattern - within the class of the inborn disorders of the sphingolipid metabolism (called sphingolipidoses). Since patients with NPD-A do not survive ...

Last Updated: 2 Jul 2013

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Biomarker for Niemann Pick Type C Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease; Niemann-Pick Disease, Type C

 

Last Updated: 3 Jun 2014

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Longitudinal Study of Cognition With Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 5 Feb 2014

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Phase 1/2 Study of Vorinostat Therapy in Niemann-Pick Disease, Type C1
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease

 

Last Updated: 25 Apr 2014

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