Phenotypes associated with the disease Idiopathic copper-associated cirrhosis (ORPHA:209919):
- 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: Obligate (HP:0040280). (ORPHA:209919)
- Copper accumulation in liver (HP:0025321): An anomalous build up of copper (Cu) in the liver. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:209919)
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209919)
- Increased urinary copper concentration (HP:0010839): An increased concentration of copper in the urine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209919)
- Elevated circulating copper concentration (HP:0032254): The concentration of copper cation in the blood circulation is above the upper limit of normal. This term refers to the total copper concentration. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:209919)
Not associated with this disease:
- Decreased circulating ceruloplasmin concentration (HP:0010837): The concentration of ceruloplasmin in the blood circulation is below the lower limit of normal. Evidence: TAS. (ORPHA:209919)