hereditary angioedema with C1Inh deficiency
Findings
No curated finding names hereditary angioedema with C1Inh deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Forms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
Definition from the Mondo Disease Ontology (MONDO:0033946), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
27 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.
- Axonal degenerationHPOHP:0040078
- 1 of 1 reported patient
- Decreased circulating complement C4 concentrationHPOHP:0045042
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- HypoesthesiaHPOHP:0033748
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 1 of 1 reported patient
- Periorbital edemaHPOHP:0100539
- 2 of 2 reported patients
- Reduced circulating CH50 activity
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SERPING1HGNC:1228
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Semidominant · 2025
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: hereditary angioedema with C1Inh deficiency
- Also called
- angioedema, hereditary, 1 and 2angioedema, hereditary, type 1/2