encyclopedia of medical concepts
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 
ψ 

Niemann-Pick Diseases

More information in Books or onNLM PubMed
Definition: A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.  note specific types are available   
See Also Sea-Blue Histiocyte Syndrome; Sphingomyelin Phosphodiesterase
Examples Niemann-Pick Disease, Type A; Niemann-Pick Disease, Type B; Niemann-Pick Disease, Type C
Other names Niemann-Pick Disease; Niemann Pick Diseases; Niemann Pick Disease
 
SubstanceCAS Registry & nameCategoriesSource
NPC2 protein, rat  0   *Carrier Proteins *Glycoproteins Niemann-Pick Diseases. Cell Biol Int. 2010;34(4):353-9
Sphingomyelin lipidosis  0   *Niemann-Pick Diseases.
NPC2 protein, Drosophila  0   *Membrane Proteins *Drosophila Proteins Niemann-Pick Diseases. Development. 2007 Oct;134(20):3733-42
dnpc1 protein, Drosophila  0   *Membrane Proteins *Drosophila Proteins Niemann-Pick Diseases. Development. 2005 Nov;132(22):5115-24
NPC1L1 protein, human  0   *Membrane Proteins Niemann-Pick Diseases. Genomics 2000 Apr 15;65(2):137-45
NPC1 protein, human  0   *Carrier Proteins *Membrane Glycoproteins Niemann-Pick Diseases. Science 1997 Jul 11;277(5323):228-31
Npc1 protein, mouse  0   *Proteins Niemann-Pick Diseases. Science 1997 Jul 11;277(5323):232-5
NPC2 protein, human  0   *Carrier Proteins *Glycoproteins Niemann-Pick Diseases. Eur J Biochem 1997 Jan 15;243(1-2):437-41; Gene 1995 Feb 14;153(2):291-2

To share this definition, click "text" (Facebook, Twitter) or "link" (blog, mail) then paste text link
Ads by Google

Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

Warning: the drugs or drug combinations referred to here may be similar or related, but are not be the same ones and may not have the same pharmacological action as other substances described on the same page or in the same row. Please refer to product monograph or to your doctor
This website is accredited by Health On the Net Foundation. Click to verify.
We comply with the HONcode standard for trustworthy health information: verify here.
About Reference.MD Privacy