Structured Summary
Abstract
An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes.
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Synonyms
1 entry terms
- Cholesteryl Ester Storage Disease
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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.
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History Note
89
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Previous Indexing
- Cholesterol Esters (1978-1988)
- Lipase (1966-1988)
- Lipid Metabolism, Inborn Errors (1966-1988)
- Lipoidosis (1966-1988)
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References
- National Library of Medicine. Cholesterol Ester Storage Disease. Medical Subject Headings (MeSH). 2026. Unique ID D015217. http://id.nlm.nih.gov/mesh/2026/D015217
- Cholesterol Ester Storage Disease. In: Wikidata. https://www.wikidata.org/wiki/Q2622714