Phenotypes associated with the disease eosinophilia, familial (OMIM:131400):
- Pulmonary infiltrates (HP:0002113). Evidence: PCS. Frequency: Frequent (HP:0040282). (PMID:6033105)
- Increased total eosinophil count (HP:0001880): Increased count of eosinophils in the blood. Evidence: PCS. Frequency: 20/20. (PMID:9758611;OMIM:131400)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: PCS. (PMID:9758611)
- Recurrent bronchitis (HP:0002837): An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis. Evidence: PCS. (PMID:6033105)
- Myocardial eosinophilic infiltration (HP:0031323): An increase in the number of eosinophils in myocardial tissue. Evidence: PCS. (PMID:9758611)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: Occasional (HP:0040283). (PMID:6033105)
- 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: IEA. (OMIM:131400)
- Increased total leukocyte count (HP:0001974): An abnormal increase in the number of leukocytes in the blood. Evidence: PCS. Frequency: 20/20. (PMID:9758611;PMID:6033105)