GTR Home > Conditions/Phenotypes > Benign recurrent intrahepatic cholestasis 2

Summary

Excerpted from the GeneReview: ATP8B1 Deficiency
ATP8B1 deficiency encompasses a phenotypic spectrum ranging from severe to intermediate to mild, based on an individual’s clinical findings and laboratory test results, including liver biopsy. Severe ATP8B1 deficiency is characterized by onset of symptoms of cholestasis (pruritus and attacks of jaundice) within the first few months of life. Secondary manifestations such as coagulopathy (due to vitamin K deficiency), malabsorption, and poor weight gain may present earlier than age three months. Without surgical intervention, cirrhosis and evolution to end-stage hepatic failure and death usually ensue before the third decade. Mild ATP8B1 deficiency is characterized by intermittent episodes of cholestasis manifest as severe pruritus and jaundice; chronic liver damage does not typically develop. In contrast to patients in whom bouts of cholestasis are induced only by particular triggers known to increase risk of cholestasis (drug exposure, shifts in hormonal milieu [including those resulting from ingestion of contraceptive drugs or from pregnancy], coexistent malignancy), some or all bouts of cholestasis in individuals with mild ATP8B1 deficiency have different or unknown triggers.

Available tests

29 tests are in the database for this condition.

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Genes See tests for all associated and related genes

  • Also known as: ABC16, BRIC2, BSEP, PFIC-2, PFIC2, PGY4, SPGP, ABCB11
    Summary: ATP binding cassette subfamily B member 11

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