Xanthomatosis, Cerebrotendinous
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.
Year introduced: 1997
PubMed search builder options
Subheadings:
Tree Number(s): C16.320.565.398.925, C18.452.584.563.925, C18.452.584.750.975, C18.452.648.398.925
MeSH Unique ID: D019294
Entry Terms:
- Cerebrotendinous Xanthomatoses
- Xanthomatoses, Cerebrotendinous
- Van Bogaert-Scherer-Epstein Disease
- Bogaert-Scherer-Epstein Disease, Van
- Disease, Van Bogaert-Scherer-Epstein
- Van Bogaert Scherer Epstein Disease
- Cerebrotendinous Xanthomatosis
- Cerebral Cholesterinosis
- Cerebral Cholesterinoses
Previous Indexing: