U.S. flag

An official website of the United States government

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

Summary

Excerpted from the GeneReview: ATP8B1 Deficiency
The phenotypic spectrum of ATP8B1 deficiency ranges from severe through moderate to mild. Severe ATP8B1 deficiency is characterized by infantile-onset cholestasis that progresses to cirrhosis, hepatic failure, and early death. Although mild-to-moderate ATP8B1 deficiency initially was thought to involve intermittent symptomatic cholestasis with a lack of hepatic fibrosis, it is now known that hepatic fibrosis may be present early in the disease course. Furthermore, in some persons with ATP8B1 deficiency the clinical findings can span the phenotypic spectrum, shifting over time from the mild end of the spectrum (episodic cholestasis) to the severe end of the spectrum (persistent cholestasis). Sensorineural hearing loss (SNHL) is common across the phenotypic spectrum.

Available tests

42 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

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

Clinical features

Help

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.