- Facial edema (HP:0000282). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Skin rash (HP:0000988): A red eruption of the skin. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Joint swelling (HP:0001386). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Nausea and vomiting (HP:0002017): Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- 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: Frequent (HP:0040282). (ORPHA:528623)
- Pharyngeal edema (HP:0011855): Abnormal accumulation of fluid leading to swelling of the pharynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Laryngeal edema (HP:0012027): An abnormal accumulation of fluid and swelling in the tissues of the larynx. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Pain (HP:0012531): An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Serpiginous cutaneous lesion (HP:0025527): A skin lesion with a snake- or serpent-like distribution. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Genital edema (HP:0031188): A buildup of fluid that causes swelling in the soft tissues of the genital area. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Decreased circulating C1-esterase inhibitor concentration (HP:0034204): Decreased concentration of C1-esterase inhibitor (C1INH) in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- 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. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- 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: Frequent (HP:0040282). (ORPHA:528623)
- Muscular edema (HP:0100748). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Non-pitting edema (HP:6000507): Non-pitting edema occurs when excess fluid builds up in the body causing swelling that does not indent when pressure is applied. It usually occurs in the limbs, and often results from underlying medical conditions affecting lymphatic system function. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Erythema marginatum (HP:6001012): An erythematous (pink-red, depending on the skin color of the affected individual) macule that spreads peripherally and coalesces to form polycyclic or serpentine patches or plaques. Lesions occur in crops over days to weeks and are evanescent. The rate of migration is 2 to 12 mm over a period of a few hours. Erythema marginatum tends to affect the trunk more than the extremities and to not be accompanied by pruritus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:528623)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528623)
- Paresthesia (HP:0003401): Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528623)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528623)
- Asthenia (HP:0025406): A state characterized by a feeling of weakness and loss of strength leading to a generalized weakness of the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:528623)
- Episodic upper airway obstruction (HP:0012271): Intermittent episodes of increased resistance to the passage of air in the upper airway. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:528623)
These phenotypes are associated with the disease Hereditary angioedema with C1Inh deficiency (ORPHA:528623).
The following phenotypes are NOT associated with this disease:
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. (ORPHA:528623)
- 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:528623)