Phenotypes associated with the disease protoporphyria, erythropoietic, 2 (OMIM:618015, an entry in Online Mendelian Inheritance in Man):
- Increased erythrocyte protoporphyrin concentration (HP:0012187, a Human Phenotype Ontology term): Concentration of protoporphyrins in erythrocytes above the upper limit of normal. Evidence: PCS. Frequency: 3/3. (PMID:28874591)
- Iron deficiency anemia (HP:0001891, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 1/3. (PMID:28874591)
- Cutaneous photosensitivity (HP:0000992, a Human Phenotype Ontology term): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 3/3. (PMID:28874591)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. Frequency: 1/1. (PMID:28874591)
- Autosomal dominant inheritance (HP:0000006, a Human Phenotype Ontology term): 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:28874591)