- Angioedema (HP:0100665): Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis. Evidence: PCS. Frequency: 3/3. (PMID:32542751)
- Nailfold capillary tortuosity (HP:0033250): An increased number of turns of the blood vessels of the nailfold with a charactereistic winded or twisted appearance of the blood vessels. Evidence: PCS. (PMID:32542751)
- Facial edema (HP:0000282). Evidence: PCS. Frequency: 3/3. (PMID:32542751)
- Nail bed hemorrhage (HP:0030254): Small areas of bleeding (hemorrhage) under the fingernail or toenail. Evidence: PCS. (PMID:32542751)
- Swollen lip (HP:0031244): Enlargement of the lip typically due to fluid buildup or inflammation. Evidence: PCS. Frequency: 3/3. (PMID:32542751)
- 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: TAS. (PMID:32542751)
These phenotypes are associated with the disease angioedema, hereditary, 7 (OMIM:619366).