Xanthomatosis, Cerebrotendinous

**Definition:** 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.

**Tree numbers:** - C16.320.565.398.925 - C18.452.584.563.925 - C18.452.584.750.975 - C18.452.648.398.925

**Synonyms:** - Van Bogaert-Scherer-Epstein Disease - Cerebrotendinous Xanthomatosis - Cerebral Cholesterinosis