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

Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C Disease.
 

Author(s): Elena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, Christopher A Wassif, James Gray, Kathryn R Burkert, David A Smith, Lauren Morris, Stephanie M Cologna, Cody J Peer, Tristan M Sissung, Constantin-Daniel Uscatu, William D Figg, William J Pavan, Charles H Vite, Forbes D Porter, Frances M Platt

Journal:

 

Niemann-Pick type C (NPC) disease is a neurodegenerative lysosomal storage disease caused by mutations in either the NPC1 or NPC2 gene. NPC is characterised by storage of multiple lipids in the late endosomal/lysosomal compartment, resulting in cellular and organ system dysfunction. ...

Last Updated: 29 Mar 2016

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Necroptosis in Niemann-Pick disease, type C1: a potential therapeutic target.
 

Author(s): A Cougnoux, C Cluzeau, S Mitra, R Li, I Williams, K Burkert, X Xu, C A Wassif, W Zheng, F D Porter

Journal:

 

Niemann-Pick disease, type C1 (NPC1) is a neurodegenerative, lysosomal storage disorder due to mutation of the NPC1 gene. The NPC1 phenotype is characterized by progressive neuronal dysfunction, including cerebellar ataxia and dementia. There is histological evidence of neuroinflammation ...

Last Updated: 18 Mar 2016

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Towards a New Diagnostic Standard for Niemann-Pick C Disease.
 

Author(s): Xuntian Jiang, Daniel S Ory

Journal:

 

Last Updated: 16 Mar 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 "Niemann-Pick disease" returned 30 free, full-text review articles on human participants. First 3 results:

[Research advances in diagnosis and therapy of Niemann-Pick disease type C].
 

Author(s): Shou-Chen Ren, Bao-Qin Gao

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2015 May;17(5):533-8.

 

Niemann-Pick disease type C (NPC) is an autosomal recessive lysosomal lipid storage disease associated with impaired intracellular cholesterol trafficking. A wide spectrum of clinical phenotype has been described, with a possible onset at all ages of life from the neonatal period ...

Last Updated: 27 May 2015

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Immune dysfunction in Niemann-Pick disease type C.
 

Author(s): Nick Platt, Annelise O Speak, Alexandria Colaco, James Gray, David A Smith, Ian M Williams, Kerri-Lee Wallom, Frances M Platt

Journal: J. Neurochem.. 2016 Jan;136 Suppl 1():74-80.

 

Lysosomal storage diseases are inherited monogenic disorders in which lysosome function is compromised. Although individually very rare, they occur at a collective frequency of approximately one in five thousand live births and usually have catastrophic consequences for health. The ...

Last Updated: 25 Jan 2016

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Role of ACAT1-positive late endosomes in macrophages: cholesterol metabolism and therapeutic applications for Niemann-Pick disease type C.
 

Author(s): Naomi Sakashita, XiaoFeng Lei, Masashi Kamikawa, Kazuchika Nishitsuji

Journal: J. Med. Invest.. 2014 ;61(3-4):270-7.

 

Macrophages in hyperlipidemic conditions accumulate cholesterol esters and develop into foamy transformed macrophages. During this transformation, macrophages demonstrate endoplasmic reticulum fragmentation and consequently produce acyl coenzyme A: cholesterol acyltransferase 1 (ACAT1)-positive ...

Last Updated: 29 Sep 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C

 

Last Updated: 30 Aug 2016

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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: 31 Aug 2016

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Biomarker for Niemann Pick Type C Disease
 

Status: Recruiting

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

 

Last Updated: 2 Oct 2016

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