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Niemann-Pick Disease, Type A MeSH Descriptor Data 2023


MeSH Heading
Niemann-Pick Disease, Type A
Tree Number(s)
C10.228.140.163.100.435.825.700.500
C15.604.250.410.625.500
C16.320.565.189.435.825.700.500
C16.320.565.398.641.803.730.500
C16.320.565.595.554.825.700.500
C18.452.132.100.435.825.700.500
C18.452.584.563.641.803.730.500
C18.452.648.189.435.825.700.500
C18.452.648.398.641.803.730.500
C18.452.648.595.554.825.700.500
Unique ID
D052536
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D052536
Scope Note
The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
Entry Version
NIEMANN PICK DIS TYPE A
Entry Term(s)
Classical Niemann-Pick Disease
Neuronal Cholesterol Lipidosis
Niemann-Pick Disease, Acute Neuronopathic Form
Niemann-Pick Disease, Acute Neurovisceral Form
Niemann-Pick Disease, Neuronopathic Type
Niemann-Pick's Disease Type A
Ophthalmoplegia, Supraoptic Vertical
Sphingomyelin Cholesterol Lipidosis
Sphingomyelin Lipidosis
Sphingomyelinase Deficiency
Sphingomyelinase Deficiency Disease
Type A Niemann-Pick Disease
Previous Indexing
Niemann-Pick Diseases (1997-2006)
Public MeSH Note
2007; see NIEMANN-PICK DISEASES 2000-2006
History Note
2007; use NIEMANN-PICK DISEASES 2000-2006
Date Established
2007/01/01
Date of Entry
2006/07/05
Revision Date
2021/07/01
Niemann-Pick Disease, Type A Preferred
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