Phenotypes associated with the disease isolated hyperferritinemia (OMIM:620729):
- Abnormal circulating ferritin concentration (HP:0040133): A deviation from the normal circulating concentration of ferritin. Ferritin concentration can be measured in serum or plasma. Evidence: PCS. Frequency: 12/12. (PMID:37490907)
- 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:37490907)
- Abnormal circulating iron concentration (HP:0040130): The concentration of iron in the blood circulation is outside the limits of normal. Evidence: PCS. Frequency: 0/12. (PMID:37490907)
- 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: 0/12. (PMID:37490907)
- Elevated circulating hepcidin concentration (HP:0031877): Concentration of hepcidin in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 12/12. (PMID:37490907)