Disease

Progressive familial intrahepatic cholestasis 51, 2, 3

Gene

NR1H4

Inheritance AR
Current Treatments Odevixibat, ursodeoxycholic acid or liver transplant
Evidence for Treatment expert opinion
Non-Molecular Testing Availability yes
Non-Molecular Test AST, ALT, bilirubin1
Disease Frequency (per 100,000) 1.52
Genes Included in Disease Frequency ATP8B1, ABCB11, ABCB4, TJP2, NR1H4, SLC51A, USP53, KIF12, ZFYV19, MYO5B
Experimental / Investigational Therapies https://clinicaltrials.gov/search?cond=Progressive%20Familial%20Intrahepatic%20Cholestasis
Last Updated: March 6, 2026
RX Genes
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