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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., 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
  • Deficiencies, Acid Sphingomyelinase
  • Deficiency, Acid Sphingomyelinase
  • Sphingomyelinase Deficiencies, Acid
  • Sphingomyelinase Deficiency, Acid
  • ASM-Deficient Niemann-Pick Disease
  • ASM Deficient Niemann Pick Disease
  • ASM-Deficient Niemann-Pick Diseases
  • Disease, ASM-Deficient Niemann-Pick
  • Diseases, ASM-Deficient Niemann-Pick
  • Niemann-Pick Disease, ASM-Deficient
  • Niemann-Pick Diseases, ASM-Deficient
  • ASM Deficiency
  • ASM Deficiencies
  • Deficiencies, ASM
  • Deficiency, ASM

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