Phenotypes associated with the disease citrullinemia, type II, adult-onset (OMIM:603471):
- Hepatic steatosis (HP:0001397): Steatosis is a term used to denote lipid accumulation within hepatocytes. Evidence: PCS. Frequency: 17/19. (PMID:18620775)
- Confusion (HP:0001289): Lack of clarity and coherence of thought, perception, understanding, or action. Evidence: PCS. Frequency: 5/19. (PMID:18620775)
- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. (PMID:10369257)
- Protein craving (HP:6000785): Unusually strong preference for protein-rich foods. Evidence: PCS. (PMID:18620775)
- Argininosuccinic aciduria (HP:0025630): Increased amount of argininosuccinate in the urine. Evidence: PCS. (PMID:10369257)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. (PMID:10369257)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 11/14. (PMID:10369257)
- Elevated plasma citrulline (HP:0011966): An increased concentration of citrulline in the blood. Evidence: PCS. Frequency: 37/37. (PMID:10369257)
- 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: 15/19. (PMID:10369257)
- Cerebral edema (HP:0002181): Abnormal accumulation of fluid in the brain. Evidence: PCS. (PMID:10369257)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 17/19. (PMID:10369257)
- Ballooning hepatocyte degeneration (HP:0033193): Swelling of the hepatocyte, rounding of its contour, and alteration of the cytoplasm, which takes on a reticulated, rarefied, or flocculant quality. The cytoplasm of the ballooned hepatocytes often contains clumps of eosinophilic ropey material known as Mallory-Denk bodies (MDBs) or Mallory hyaline, which is composed of hyperphosphorylated misfolded intermediate filaments, ubiquitin, and ubiquitin-binding protein P62. Evidence: PCS. Frequency: 4/14. (PMID:10369257)
- Hyperargininemia (HP:0500153): An increased amount of arginine levels in the blood. Evidence: PCS. (PMID:10369257)
- Portal inflammation (HP:0033196): Infiltration of portal fields by inflammatory cells. Evidence: PCS. Frequency: 6/14. (PMID:10369257)
- 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:10369257)
- Hyperammonemia (HP:0001987): An increased concentration of ammonia in the blood. Evidence: PCS. Frequency: 14/19. (PMID:18620775)
- Pancreatitis (HP:0001733): The presence of inflammation in the pancreas. Evidence: PCS. Frequency: 5/19. (PMID:10369257)
- Coma (HP:0001259): The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli. Evidence: PCS. Frequency: 3/19. (PMID:18620775)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: PCS. Frequency: 1/19. (PMID:10369257)