Phenotypes associated with the disease erythrocytosis, familial, 4 (OMIM:611783):
- Mesenteric venous thrombosis (HP:0030248): A clot that obstructs blood flow in a mesenteric vein (the superior and the inferior mesenteric vein drain blood from the small and large intestine). Evidence: PCS. Frequency: 1/5. (PMID:18378852)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 6/6. (PMID:18378852;PMID:18184961)
- Increased circulating hemoglobin concentration (HP:0001900): Concentration of hemoglobin in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 6/6. (PMID:18378852;PMID:18184961)
- 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. Frequency: 5/5. (PMID:18378852;PMID:18184961)
- Deep venous thrombosis (HP:0002625): Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected. Evidence: PCS. Frequency: 1/1. Onset: Middle age onset (HP:0003596). (PMID:18184961)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: PCS. Frequency: 2/5. (PMID:18378852)
- 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. Frequency: 6/6. (PMID:18378852;PMID:18184961)
- 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. Frequency: 1/1. (PMID:18184961)
- 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:18184961)