Benign recurrent intrahepatic cholestasis 1
Other Names for this Disease
- Summerskill syndrome
- Cholestasis, benign recurrent intrahepatic 1
- Recurrent familial intrahepatic cholestasis 1
- Mild ATP8B1 deficiency
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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.
Last updated: 1/14/2013
- Benign recurrent intrahepatic cholestasis. Genetics Home Reference (GHR). April 2012; http://ghr.nlm.nih.gov/condition/benign-recurrent-intrahepatic-cholestasis. Accessed 1/14/2013.