hereditary angioedema with normal C1Inh
Findings
No curated finding names hereditary angioedema with normal C1Inh yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare hereditary angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria and with normal levels and function of C1 esterase inhibitor. Patients present with prolonged attacks which last for approximately two to five days and may include nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Affected locations and frequency of attacks differ slightly between subtypes. Estrogen-containing oral contraceptives and pregnancy are precipitating factors, especially in patients with a factor XII mutation.
Definition from the Mondo Disease Ontology (MONDO:0100567), read 2026-09-29. CC BY 4.0.
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AngioedemaHPOHP:0100665
- Very frequent (80% to 99% of cases)
- Edema of the upper limbsHPOHP:0010742
- Frequent (30% to 79% of cases)
- Facial edemaHPOHP:0000282
- Frequent (30% to 79% of cases)
- Intestinal edemaHPOHP:0005225
- Frequent (30% to 79% of cases)
- Laryngeal edemaHPOHP:0012027
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- Abnormal bleedingHPO
Where it sits
- A kind of
Other names
5 names
Resolves to: hereditary angioedema with normal C1Inh
- Also called
- HAE with normal C1 inhibitorHAE with normal C1Inhhereditary angioedema with normal C1 inhibitorhereditary angioneurotic edema with normal C1 inhibitorhereditary angioneurotic edema with normal C1Inh