Phenotypes associated with the disease neonatal intrahepatic cholestasis due to citrin deficiency (OMIM:605814):
- Hypermethioninemia (HP:0003235): An increased concentration of methionine in the blood. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Decreased circulating HDL-C concentration (HP:0003233): The concentration of high-density lipoprotein cholesterol in the blood circulation is below the lower limit of normal. Evidence: TAS. (OMIM:605814)
- Hyperthreoninemia (HP:0003354): The concentration of threonine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Hypertyrosinemia (HP:0003231): An increased concentration of tyrosine in the blood. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- 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. (OMIM:605814)
- Hyperlysinemia (HP:0002161): The concentration of lysine in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. (OMIM:605814)
- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: TAS. (OMIM:605814)
- Macrovesicular hepatic steatosis (HP:0001403): A form of hepatic steatosis characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes. Evidence: PCS. Frequency: 1/1. (PMID:11281457)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- 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: PCS. Frequency: 3/3. (PMID:11281457)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. (OMIM:605814)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. (OMIM:605814)
- Elevated plasma citrulline (HP:0011966): An increased concentration of citrulline in the blood. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Elevated gamma-glutamyltransferase level (HP:0030948): Increased level of the enzyme gamma-glutamyltransferase (GGT). GGT is mainly present in kidney, liver, and pancreatic cells, but small amounts are present in other tissues. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Conjugated hyperbilirubinemia (HP:0002908). Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Hyperargininemia (HP:0500153): An increased amount of arginine levels in the blood. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Portal fibrosis (HP:0006580): Fibroblast proliferation and fiber expansion from the portal areas to the lobule. Evidence: PCS. Frequency: 1/1. (PMID:11281457)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 3/3. (PMID:11281457)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:11281457)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. (OMIM:605814)
- Microvesicular hepatic steatosis (HP:0001414): A form of hepatic steatosis characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes. Evidence: PCS. Frequency: 1/1. (PMID:11281457)