Niemann-Pick Diseases
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.
Year introduced: 2000(1966)
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Tree Number(s): C10.228.140.163.100.435.825.700, C15.604.250.410.625, C16.320.565.189.435.825.700, C16.320.565.398.641.803.730, C16.320.565.595.554.825.700, C18.452.132.100.435.825.700, C18.452.584.563.641.803.730, C18.452.648.189.435.825.700, C18.452.648.398.641.803.730, C18.452.648.595.554.825.700
MeSH Unique ID: D009542
Entry Terms:
- Niemann Pick Diseases
- Niemann-Pick Disease
- Niemann Pick Disease
- Acid Sphingomyelinase-Deficient Niemann-Pick Disease
- Acid Sphingomyelinase Deficient Niemann Pick Disease
- Acid Sphingomyelinase Deficiency
- Deficiency, Acid Sphingomyelinase
- Sphingomyelinase Deficiency, Acid
- ASM-Deficient Niemann-Pick Disease
- ASM Deficient Niemann Pick Disease
- Disease, ASM-Deficient Niemann-Pick
- Niemann-Pick Disease, ASM-Deficient
- ASM Deficiency
- ASM Deficiencies
- Deficiency, ASM
See Also: