Cerebrotendinous Xanthomatosis

About the Disease
Cerebrotendinous Xanthomatosis, also known as ctx, is related to lipid storage disease and hypercholesterolemia, familial, 1, and has symptoms including angina pectoris, cerebellar ataxia and muscle spasticity. An important gene associated with Cerebrotendinous Xanthomatosis is CYP27A1 (Cytochrome P450 Family 27 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and skin, and related phenotypes are visual impairment and abnormal enzyme/coenzyme activity

Common Targets
HSD11B1 | NR1H4 | NMDA receptor | CYP27A1

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