Phenotypes associated with the disease Congenital bile acid synthesis defect type 3 (ORPHA:79302):
- Jaundice (HP:0000952): Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Cholestasis (HP:0001396): Impairment of bile flow due to obstruction in bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Bile duct proliferation (HP:0001408): Proliferative changes of the bile ducts. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Fat malabsorption (HP:0002630): Abnormality of the absorption of fat from the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Elevated circulating aspartate aminotransferase concentration (HP:0031956): The concentration of aspartate aminotransferase (AST) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)
- Abnormality of vitamin metabolism (HP:0100508): An anomaly in the metabolism of a vitamin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79302)