Phenotypes associated with the disease calcific aortic disease with immunologic abnormalities, familial (OMIM:114065):
- Aortic valve stenosis (HP:0001650): The presence of a stenosis (narrowing) of the aortic valve. Evidence: IEA. (OMIM:114065)
- Aortic regurgitation (HP:0001659): An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle. Evidence: TAS. (OMIM:114065)
- Aortic valve calcification (HP:0004380): Deposition of calcium salts in the aortic valve. Evidence: PCS. (PMID:8213448)
- Increased circulating immunoglobulin concentration (HP:0010702): An increased level of gamma globulin (immunoglobulin) in the blood. Evidence: IEA. (OMIM:114065)
- 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:114065)