Structured Summary
Abstract
An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms.
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Synonyms
9 entry terms
- Cerebral Cholesterinosis
- Van Bogaert-Scherer-Epstein Disease
- Xanthomatosis, Cerebrotendinous
- Bogaert-Scherer-Epstein Disease, Van
- Cerebral Cholesterinoses
- Cerebrotendinous Xanthomatoses
- Disease, Van Bogaert-Scherer-Epstein
- Van Bogaert Scherer Epstein Disease
- Xanthomatoses, Cerebrotendinous
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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
97
MeSH Record
Previous Indexing
- Xanthomatosis (1968-1996)
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AMA Style
References
- National Library of Medicine. Cerebrotendinous Xanthomatosis. Medical Subject Headings (MeSH). 2026. Unique ID D019294. http://id.nlm.nih.gov/mesh/2026/D019294
- Cerebrotendinous Xanthomatosis. In: Wikipedia. https://en.wikipedia.org/wiki/Cerebrotendinous_xanthomatosis
- Cerebrotendinous Xanthomatosis. In: Wikidata. https://www.wikidata.org/wiki/Q2602467