- Elevated transferrin saturation (HP:0012463): An above normal level of saturation of serum transferrin with iron. Evidence: PCS. Frequency: 1/1. (PMID:11389486)
- Abnormal circulating copper concentration (HP:0010836): Any deviation from the normal concentration of copper cation in the blood circulation. Evidence: PCS. Frequency: 0/4. (PMID:11389486)
- Elevated hepatic iron concentration (HP:0012465): An increased level of iron in liver tissues. Evidence: PCS. Frequency: 1/1. (PMID:11389486)
- Elevated circulating iron concentration (HP:0003452): The concentration of iron cation in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:11389486)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. Frequency: 0/4. (PMID:11389486)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: PCS. Frequency: 4/4. (PMID:11389486)
- Abnormal circulating transferrin concentration (HP:0032385): Any deviation from the normal concentration of transferrin in the blood circulation. Evidence: PCS. Frequency: 0/4. (PMID:11389486)
- Abnormal circulating ceruloplasmin concentration (HP:0033144): Any deviation from the normal concentration of ceruloplasmin in the blood circulation. Evidence: PCS. Frequency: 0/4. (PMID:11389486)
- Increased circulating ferritin concentration (HP:0003281): Increased concentration of ferritin in the blood circulation. Evidence: PCS. Frequency: 4/4. (PMID:11389486)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:11389486)
These phenotypes are associated with the disease hemochromatosis type 5 (OMIM:615517).