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- Bacb2f9db5df77b6aeec78c92f0236a4c hasDbXref "GARD:0010028" @default.
- Bacb2f9db5df77b6aeec78c92f0236a4c type Axiom @default.
- Bacb2f9db5df77b6aeec78c92f0236a4c annotatedProperty IAO_0000115 @default.
- Bacb2f9db5df77b6aeec78c92f0236a4c annotatedSource MONDO_0009469 @default.
- Bacb2f9db5df77b6aeec78c92f0236a4c annotatedTarget "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may 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." @default.