| Disease ID | Source | Name | Description |
| 211600 | OMIM | Cholestasis, progressive familial intrahepatic, 1 (PFIC1) | A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. The disease is caused by variants affecting the gene represented in this entry. |
| 243300 | OMIM | Cholestasis, benign recurrent intrahepatic, 1 (BRIC1) | A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. The disease is caused by variants affecting the gene represented in this entry. |
| 147480 | OMIM | Cholestasis of pregnancy, intrahepatic 1 (ICP1) | A liver disorder of pregnancy. It presents during the second or, more commonly, the third trimester of pregnancy with intense pruritus which becomes more severe with advancing gestation and cholestasis. Cholestasis results from abnormal biliary transport from the liver into the small intestine. ICP1 causes fetal distress, spontaneous premature delivery and intrauterine death. ICP1 patients have spontaneous and progressive disappearance of cholestasis after delivery. The disease may be caused by variants affecting the gene represented in this entry. |