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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Mutations in the ATP8B1 gene cause BRIC1. The ATP8B1 gene provides instructions for making a protein that helps to control the distribution of certain fats, called lipids, in the membranes of liver cells. This function likely plays a role in maintaining an appropriate balance of bile acids, a component of bile. This process, known as bile acid homeostasis, is critical for the normal secretion of bile and the proper functioning of liver cells. Although the mechanism is unclear, mutations in the ATP8B1 gene result in the buildup of bile acids in liver cells. The imbalance of bile acids leads to the signs and symptoms of BRIC1. The factors that trigger episodes of BRIC are unknown.
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.