- Urticaria (HP:0001025): Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure. Evidence: PCS. Frequency: 9/9. (PMID:26841242)
- Facial erythema (HP:0001041): Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin. Evidence: PCS. Frequency: 9/9. (PMID:26841242)
- Flushing (HP:0031284): Recurrent episodes of redness of the skin together with a sensation of warmth or burning of the affected areas of skin. Evidence: PCS. Frequency: 9/9. (PMID:26841242)
- Dermatographic urticaria (HP:0011971): An exaggerated whealing tendency when the skin is stroked, that is, formation of red, itchy bumps and lines on the skin as a result of pressure on the skin (for instance, stroking the skin with a pen or tongue depressor). Evidence: PCS. Frequency: 0/9. (PMID:26841242)
- 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:26841242)
These phenotypes are associated with the disease autosomal dominant vibratory urticaria (OMIM:125630).