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Xanthomatosis, Cerebrotendinous MeSH Descriptor Data 2023


MeSH Heading
Xanthomatosis, Cerebrotendinous
Tree Number(s)
C16.320.565.398.925
C18.452.584.563.925
C18.452.584.750.975
C18.452.648.398.925
Unique ID
D019294
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D019294
Scope Note
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.
Entry Term(s)
Cerebral Cholesterinosis
Cerebrotendinous Xanthomatosis
Van Bogaert-Scherer-Epstein Disease
Previous Indexing
Xanthomatosis (1968-1996)
Public MeSH Note
97
History Note
97
Date Established
1997/01/01
Date of Entry
1996/06/10
Revision Date
2021/06/30
Xanthomatosis, Cerebrotendinous Preferred
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