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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the ATP8B1 gene cause benign recurrent intrahepatic cholestasis type 1 (BRIC1), and mutations in the ABCB11 gene cause benign recurrent intrahepatic cholestasis type 2 (BRIC2). These two genes are involved in the release (secretion) of bile, a fluid produced by the liver that helps digest fats.</p><p>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.</p><p>The ABCB11 gene provides instructions for making a protein called the bile salt export pump (BSEP). This protein is found in the liver, and its main role is to move bile salts (a component of bile) out of liver cells. Mutations in the ABCB11 gene result in a reduction of BSEP function. This reduction leads to a decrease of bile salt secretion, which causes the features of BRIC2.</p><p>The factors that trigger episodes of BRIC are unknown.</p><p>Some people with BRIC do not have a mutation in the ATP8B1 or ABCB11 gene. In these individuals, the cause of the condition is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Benign recurrent intrahepatic cholestasis?"},{"bodyHtml":"<p>The first episode of cholestasis usually occurs in an affected person&#x27;s teens or twenties. An attack typically begins with severe itchiness (pruritus), followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. Other general signs and symptoms that occur during these episodes include a vague feeling of discomfort (malaise), irritability, nausea, vomiting, and a lack of appetite. A common feature of BRIC is the reduced absorption of fat in the body, which leads to excess fat in the feces (steatorrhea). Because of a lack of fat absorption and loss of appetite, affected individuals often lose weight during episodes of cholestasis.</p><p>BRIC is divided into two types, BRIC1 and BRIC2, based on the genetic cause of the condition. The signs and symptoms are the same in both types.</p><p>This condition is called benign because it does not cause lasting damage to the liver. However, episodes of liver dysfunction occasionally develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"benign-recurrent-intrahepatic-cholestasis","sourceDocuments":[{"name":"Benign recurrent intrahepatic cholestasis","reviewed":"2012-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:19:48.824858+00:00","label":"Causes","pageSha256":"89edf4061329af68f9e527d09990c8d105b049c5b92876ef27dd7862156bc673","sourceUrl":"https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/benign-recurrent-intrahepatic-cholestasis"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Benign recurrent intrahepatic cholestasis"},"schemaVersion":1}