Niemann-Pick disease type C1

Common Name(s)

Niemann-Pick disease type C1, Niemann-Pick Disease, Type C

Niemann-Pick type C (NPC) disease is an autosomal recessive lipid storage disorder characterized by progressive neurodegeneration. Approximately 95% of cases are caused by mutations in the NPC1 gene, referred to as type C1; 5% are caused by mutations in the NPC2 gene ({601015}), referred to as type C2 ({607625}). The clinical manifestations of types C1 and C2 are similar because the respective genes are both involved in egress of lipids, particularly cholesterol, from late endosomes or lysosomes (summary by {72:Vance, 2006)}. Historically, {18:Crocker (1961)} delineated 4 types of Niemann-Pick disease: the classic infantile form (type A; {257200}), the visceral form (type B; {607616}), the subacute or juvenile form (type C), and the Nova Scotian variant (type D). Types C1 and D are indistinguishable except for the occurrence of type D in patients of Nova Scotian Acadian ancestry. Since then, types E and F have also been described (see {607616}), and phenotypic variation within each group has also been described.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease type C1" for support, advocacy or research.

Ara Parseghian Medical Research Foundation

Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation funds research projects searching for a treatment and cure for Niemann-Pick Type C disease.

http://www.parseghian.org

Last Updated: 10 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Niemann-Pick disease type C1" for support, advocacy or research.

Ara Parseghian Medical Research Foundation

Ara Parseghian Medical Research Foundation, a volunteer, nonprofit corporation funds research projects searching for a treatment and cure for Niemann-Pick Type C disease.

http://www.parseghian.org

Last Updated: 10 Jan 2013

View Details

 

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 "Niemann-Pick disease type C1" returned 9 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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Aberrant promoter methylation profile of Niemann-pick type C1 gene in cardiovascular disease.
 

Author(s): Masoumeh Afzali, Alireza Nakhaee, Seyed Payman Tabatabaei, Kourosh Tirgar-Fakheri, Mohammad Hashemi

Journal: Iran. Biomed. J.. 2013 Apr;17(2):77-83.

 

The protein of Niemann-pick type C1 (NPC1) gene promotes the egress of cholesterol from late endosomes and lysosomes to other cellular compartments and contributes to a process known as reverse cholesterol transport. This study aimed to examine whether promoter methylation of NPC1 ...

Last Updated: 9 Apr 2013

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Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
 

Author(s): Rao Fu, Nicole M Yanjanin, Matthew J Elrick, Christopher Ware, Andrew P Lieberman, Forbes D Porter

Journal: Am. J. Med. Genet. A. 2012 Nov;158A(11):2775-80.

 

Niemann-Pick disease, type C1 (NPC1) is a lipid storage disorder that results in progressive neurological impairment. The NPC1 phenotype is extremely variable and at the individual level is likely influenced by other genetic traits. In addition to residual function of NPC1 protein, ...

Last Updated: 19 Oct 2012

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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 type C1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease
 

Status: Recruiting

Condition Summary: Niemann-Pick Disease, Type C1

 

Last Updated: 2 Apr 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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Biomarker for Niemann Pick Type C Disease
 

Status: Recruiting

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

 

Last Updated: 7 Nov 2013

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