Disease

Cerebrotendinous xanthomatosis1

Gene

CYP27A1

Inheritance AR
Current Treatments chenodeoxycholic acid and Ctexli (chenodiol)
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test cholestanol level2
ClinGen https://actionability.clinicalgenome.org/ac/ui/Pediatric/ui/stg2SummaryRpt/AC1084
Disease Frequency (per 100,000) 0.483
Genes Included in Disease Frequency CYP27A1
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Cerebrotendinous+xanthomatosis&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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