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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Benign recurrent intrahepatic cholestasis 1


Other Names for this Disease

  • BRIC1
  • Cholestasis, benign recurrent intrahepatic 1
  • Recurrent familial intrahepatic cholestasis 1
  • Summerskill syndrome
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Inheritance

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How is benign recurrent intrahepatic cholestasis 1 (BRIC1) inherited?

BRIC1 is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. Some people with BRIC1 have no family history of the disorder. These cases arise from mutations in the ATP8B1 gene that occur in the body's cells after conception and are not inherited.[1]
Last updated: 1/14/2013

References
  1. Benign recurrent intrahepatic cholestasis. Genetics Home Reference (GHR). April 2012; http://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis. Accessed 1/14/2013.


Other Names for this Disease
  • BRIC1
  • Cholestasis, benign recurrent intrahepatic 1
  • Recurrent familial intrahepatic cholestasis 1
  • Summerskill syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.