Xanthomatosis, Cerebrotendinous


Bogaert-Scherer-Epstein Disease, Van

Cerebral Cholesterinoses

Cerebral Cholesterinosis

Cerebrotendinous Xanthomatoses

Cerebrotendinous Xanthomatosis

Disease, Van Bogaert-Scherer-Epstein

Van Bogaert Scherer Epstein Disease

Van Bogaert-Scherer-Epstein Disease

Xanthomatoses, 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.