Phenotypes associated with the disease erythrocytosis, familial, 5 (OMIM:617907):
- Increased circulating hemoglobin concentration (HP:0001900): Concentration of hemoglobin in the blood circulation above the upper limit of normal. Evidence: PCS. (PMID:29514032)
- Increased hematocrit (HP:0001899): An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: PCS. (PMID:29514032)
- Elevated circulating erythropoietin concentration (HP:0033644): Increased concentration of erythropoietin in the blood circulation. Erythropoietin is a glycoprotein hormone produced by the peritubular cells of the kidney that stimulates red blood cell production. Evidence: PCS. (PMID:29514032)
- Polycythemia (HP:0001901): Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal. Evidence: PCS. (PMID:29514032)
- 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:29514032)