Congenital Bile Acid Synthesis Defect (AKR1D1)

Congenital bile acid synthesis defect (AKR1D1-related) is an autosomal recessive disorder caused by pathogenic variants in the gene AKR1D1. This disorder is characterized by jaundice, intrahepatic cholestasis, fat-soluble vitamin malabsorption, steatorrhea, and hepatic failure. Disease progression is more rapid and severe in infancy, and without intervention, leads to liver cirrhosis and death, while individuals with the adult-onset form of the disease may experience splenomegaly, osteoporosis, and biliary tract abnormalities. Life expectancy information for this disorder is currently unavailable.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):