- Iron deficiency anemia (HP:0001891). Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Hepatic failure (HP:0001399). Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Increased total iron binding capacity (HP:0025196): An elevation in the total-iron binding capacity, which measures how much serum iron is bound if an excess of radioactive iron is added. A high TIBC corresponds to a high transferrin concentration. The latent (or free) iron binding capacity is the difference between the TIBC and the measured serum iron, corresponding to the transferrin not bound to iron, i.e., free iron binding capacity. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Infantile onset (HP:0003593): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Increased serum bile acid concentration (HP:0012202): An increase in the concentration of bile acid in the blood. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Portal fibrosis (HP:0006580): Fibroblast proliferation and fiber expansion from the portal areas to the lobule. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Hyperbilirubinemia (HP:0002904): An increased amount of bilirubin in the blood. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- 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:25168382)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- 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. (PMID:25168382)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: PCS. Frequency: 1/1. (PMID:25168382)
These phenotypes are associated with the disease congenital bile acid synthesis defect 5 (OMIM:616278).