Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

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Synonyms

15 entry terms
  • Niemann-Pick Disease
  • Niemann Pick Disease
  • Niemann Pick Diseases
  • ASM Deficiency
  • ASM-Deficient Niemann-Pick Disease
  • Acid Sphingomyelinase Deficiency
  • Acid Sphingomyelinase-Deficient Niemann-Pick Disease
  • ASM Deficiencies
  • ASM Deficient Niemann Pick Disease
  • Acid Sphingomyelinase Deficient Niemann Pick Disease
  • Deficiency, ASM
  • Deficiency, Acid Sphingomyelinase
  • Disease, ASM-Deficient Niemann-Pick
  • Niemann-Pick Disease, ASM-Deficient
  • Sphingomyelinase Deficiency, Acid

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

note specific types are available

MeSH Record

History Note

2000(1966)

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.163.100.435.825w.700w
  2. C15.604w.250w.410w.625w
  3. C16w.320w.565w.189.435.825w.700w
  4. C16w.320w.565w.398w.641w.803w.730w
  5. C16w.320w.565w.595w.554.825w.700w
  6. C18.452w.132.100.435.825w.700w
  7. C18.452w.584w.563w.641w.803w.730w
  8. C18.452w.648w.189.435.825w.700w
  9. C18.452w.648w.398w.641w.803w.730w
  10. C18.452w.648w.595w.554.825w.700w

AMA Style

References

  1. National Library of Medicine. Niemann-Pick Diseases. Medical Subject Headings (MeSH). 2026. Unique ID D009542. http://id.nlm.nih.gov/mesh/2026/D009542
  2. Niemann-Pick Diseases. In: Wikipedia. https://en.wikipedia.org/wiki/Niemann%E2%80%93Pick_disease
  3. Niemann-Pick Diseases. In: Wikidata. https://www.wikidata.org/wiki/Q1419931