Phenotypes associated with the disease congenital bile acid synthesis defect 3 (OMIM:613812):
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. (OMIM:613812)
- 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: 1/1. (PMID:9802883)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:9802883)
- Hematochezia (HP:0002573): The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Elevated circulating alkaline phosphatase concentration (HP:0003155): Abnormally increased serum levels of alkaline phosphatase activity. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- 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: PCS. Frequency: 1/1. (PMID:9802883)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Steatorrhea (HP:0002570): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. (OMIM:613812)
- Hepatitis (HP:0012115): Inflammation of the liver. Evidence: TAS. (OMIM:613812)
- Hepatic bridging fibrosis (HP:0012852): Hepatic fibrosis that reaches from a portal area to another portal area. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Elevated circulating alanine aminotransferase concentration (HP:0031964): An abnormally high concentration in the circulation of alanine aminotransferase (ALT). Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Acholic stools (HP:0011985): Clay colored stools lacking bile pigment. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593). (PMID:9802883)
- Ductal bile plugs (HP:0034294): Bile thrombi that form an obstruction (plug) in a dilated bile duct. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Bile duct proliferation (HP:0001408): Proliferative changes of the bile ducts. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- 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:9802883)
- Intrahepatic cholestasis (HP:0001406): Impairment of bile flow due to obstruction in the small bile ducts within the liver. Evidence: TAS. (OMIM:613812)
- 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: PCS. Frequency: 1/1. Onset: Neonatal onset (HP:0003623). (PMID:9802883)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:9802883)
- Neonatal onset (HP:0003623): Onset of signs or symptoms of disease within the first 28 days of life. Evidence: PCS. Frequency: 1/1. (PMID:9802883)