Phenotypes associated with the disease primary familial polycythemia due to EPO receptor mutation (OMIM:133100, an entry in Online Mendelian Inheritance in Man):
- Cerebral hemorrhage (HP:0001342, a Human Phenotype Ontology term): Hemorrhage into the parenchyma of the brain. Evidence: IEA. (OMIM:133100)
- Peripheral thrombosis (HP:0002641, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:133100)
- Vertigo (HP:0002321, a Human Phenotype Ontology term): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. (OMIM:133100)
- Plethora (HP:0001050, a Human Phenotype Ontology term). Evidence: IEA. (OMIM:133100)
- Fatigue (HP:0012378, a Human Phenotype Ontology term): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. (OMIM:133100)
- Hypertension (HP:0000822, a Human Phenotype Ontology term): The presence of chronic increased pressure in the systemic arterial system. Evidence: IEA. (OMIM:133100)
- Myocardial infarction (HP:0001658, a Human Phenotype Ontology term): Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin. Evidence: IEA. (OMIM:133100)
- Increased circulating hemoglobin concentration (HP:0001900, a Human Phenotype Ontology term): Concentration of hemoglobin in the blood circulation above the upper limit of normal. Evidence: PCS. Frequency: 33/33. (PMID:8093406)
- Increased hematocrit (HP:0001899, a Human Phenotype Ontology term): An elevation above the normal ratio of the volume of red blood cells to the total volume of blood. Evidence: PCS. Frequency: 33/33. (PMID:8093406)
- Headache (HP:0002315, a Human Phenotype Ontology term): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: IEA. (OMIM:133100)
- 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:8093406)
- Splenomegaly (HP:0001744, a Human Phenotype Ontology term): Abnormal increased size of the spleen. Evidence: IEA. (OMIM:133100)
- Increased red blood cell mass (HP:0001898, a Human Phenotype Ontology term): The presence of an increased mass of red blood cells in the circulation. Evidence: PCS. (PMID:8093406)
- Exertional dyspnea (HP:0002875, a Human Phenotype Ontology term): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: IEA. (OMIM:133100)