- 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: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:528647)
- Facial edema (HP:0000282). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528647)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528647)
- Edema of the upper limbs (HP:0010742): An abnormal accumulation of fluid beneath the skin of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528647)
- Laryngeal edema (HP:0012027): An abnormal accumulation of fluid and swelling in the tissues of the larynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528647)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528647)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528647)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528647)
- Genital edema (HP:0031188): A buildup of fluid that causes swelling in the soft tissues of the genital area. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528647)
- Tongue edema (HP:0040315): An abnormal accumulation of fluid and swelling in the tongue. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528647)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:528647)
These phenotypes are associated with the disease Hereditary angioedema with normal C1Inh (ORPHA:528647).
The following phenotypes are NOT associated with this disease:
- 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: TAS. (ORPHA:528647)
- Decreased circulating complement C4 concentration (HP:0045042): Concentration of the complement component C4 in the blood circulation below the lower limit of normal. Evidence: TAS. (ORPHA:528647)