- Intestinal edema (HP:0005225): Accumulation of cell free, noninflammatony fluid within the wall of the intestinal tract producing uniform thickening of the mucosal folds. Evidence: PCS. (PMID:10984376)
- 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. (PMID:10984376)
- Episodic abdominal pain (HP:0002574): An intermittent form of abdominal pain. Evidence: PCS. (PMID:10984376)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: PCS. (PMID:10984376)
- Episodic upper airway obstruction (HP:0012271): Intermittent episodes of increased resistance to the passage of air in the upper airway. Evidence: PCS. (PMID:10984376)
- Facial edema (HP:0000282). Evidence: PCS. (PMID:10984376)
- Pharyngeal edema (HP:0011855): Abnormal accumulation of fluid leading to swelling of the pharynx. Evidence: PCS. (PMID:10984376)
- 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:10984376)
These phenotypes are associated with the disease hereditary angioedema type 3 (OMIM:610618).