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

LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease.
 

Author(s): Magali Pettazzoni, Roseline Froissart, Cécile Pagan, Marie T Vanier, Séverine Ruet, Philippe Latour, Nathalie Guffon, Alain Fouilhoux, Dominique P Germain, Thierry Levade, Christine Vianey-Saban, Monique Piraud, David Cheillan

Journal:

 

The biological diagnosis of sphingolipidoses currently relies on the measurement of specific enzymatic activities and/or genetic studies. Lysosphingolipids have recently emerged as potential biomarkers of sphingolipidoses and Niemann-Pick type C in plasma.

Last Updated: 27 Jul 2017

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Rapid whole-genome sequencing identifies a novel homozygous NPC1 variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasis.
 

Author(s): Amber Hildreth, Kristen Wigby, Shimul Chowdhury, Shareef Nahas, Jaime Barea, Paulina Ordonez, Sergey Batalov, David Dimmock, Stephen Kingsmore,

Journal:

 

Niemann-Pick type C disease (NPC; OMIM #257220) is an inborn error of intracellular cholesterol trafficking. It is an autosomal recessive disorder caused predominantly by mutations in NPC1 Although characterized as a progressive neurological disorder, it can also cause cholestasis ...

Last Updated: 27 May 2017

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Quantitative magnetic resonance imaging of brain atrophy in a mouse model of Niemann-Pick type C disease.
 

Author(s): John W Totenhagen, Adam Bernstein, Eriko S Yoshimaru, Robert P Erickson, Theodore P Trouard

Journal:

 

In vivo magnetic resonance imaging (MRI) was used to investigate regional and global brain atrophy in the neurodegenerative Niemann Pick Type C1 (NPC1) disease mouse model. Imaging experiments were conducted with the most commonly studied mouse model of NPC1 disease at early and late ...

Last Updated: 25 May 2017

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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 33 free, full-text review articles on human participants. First 3 results:

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature.
 

Author(s): Jayesh Sheth, Jijo John Joseph, Krati Shah, Mamta Muranjan, Mehul Mistri, Frenny Sheth

Journal:

 

Niemann-Pick disease type C (NPC) is an inherited metabolic disorder; due to defect in cellular cholesterol trafficking. It is clinically a heterogeneous disease with variable age of onset with multiple organ systems being involved. NPC1 gene is involved in 95% cases where as remaining ...

Last Updated: 18 Jan 2017

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Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
 

Author(s): David Cassiman, Seymour Packman, Bruno Bembi, Hadhami Ben Turkia, Moeenaldeen Al-Sayed, Manuel Schiff, Jackie Imrie, Paulina Mabe, Tsutomu Takahashi, Karl Eugen Mengel, Roberto Giugliani, Gerald F Cox

Journal: Mol. Genet. Metab.. 2016 Jul;118(3):206-13.

 

Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the lysosomal enzyme acid sphingomyelinase. Accumulation of sphingomyelin in hepatocytes, reticuloendothelial cells, and in ...

Last Updated: 21 Jun 2016

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Lysosome and endoplasmic reticulum quality control pathways in Niemann-Pick type C disease.
 

Author(s): Mark L Schultz, Kelsey L Krus, Andrew P Lieberman

Journal: Brain Res.. 2016 Oct;1649(Pt B):181-188.

 

Lysosomal storage diseases result from inherited deficiencies of lysosomal hydrolytic activities or lipid transport. Collectively, these disorders are a common cause of morbidity in the pediatric population and are often associated with severe neurodegeneration. Among this group of ...

Last Updated: 8 May 2016

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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 May 2017

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Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C
 

Status: Recruiting

Condition Summary: Neimann-Pick Disease, Type C

 

Last Updated: 18 Oct 2017

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Last Updated: 10 Oct 2017

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