U.S. flag

An official website of the United States government

GTR Home > Tests > Cholestasis, benign recurrent intrahepatic, 2, 605479, Autosomal recessive; BRIC2 (Benign recurrent intrahepatic cholestasis) (ABCB11 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

Cholestasis, benign recurrent intrahepatic, 2, 605479, Autosomal recessive; BRIC2 (Benign recurrent intrahepatic cholestasis) (ABCB11 gene) (Sequence Analysis-All Coding Exons) (Postnatal)

  • GTR Test IDHelp: GTR000585750.1
  • Last updated: 2022-05-14
  • Annual Review past due read more
  • Test version history

Clinical testHelp for Benign recurrent intrahepatic cholestasis type 2
Offered by Intergen

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

Help

Imported from GeneReviews

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.

Clinical features

Help

Imported from Human Phenotype Ontology (HPO)

  • Cholelithiasis
  • Intrahepatic cholestasis
  • Hepatomegaly
  • Jaundice
  • Pruritus
  • Conjugated hyperbilirubinemia
  • Elevated circulating alkaline phosphatase concentration
Show all

Inheritance pattern

Help

Autosomal recessive inheritance

Conditions tested

Target population

Help

Cholestasis, benign recurrent intrahepatic, 2, 605479, Autosomal recessive; BRIC2 (diagnosis/ clinical suspition/ etiology investigation/ classification)

Citations

Not provided

Clinical validity

Help

Not provided

Clinical utility

Help

Not provided

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.