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hereditary angioedema with normal C1Inh - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary angioedema with normal C1Inh

MONDO:0100567

Also known as:HAE with normal C1 inhibitorHAE with normal C1Inhhereditary angioedema with normal C1 inhibitor

Overview

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.

Diagnosis

Biomarker and diagnostic research for hereditary angioedema with normal C1Inh has been reported in the published literature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hereditary angioedema with normal C1Inh.

69 publications have been identified in PubMed for hereditary angioedema with normal C1Inh. Research spans Review / Meta-Analysis (36%), Case Report / Case Series (22%), and Epidemiology / Natural History (22%).

Research Type	Count	% of Total
Research summaries	21	36%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 11:22 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:528647

GARD

Genetic and Rare Diseases Info Center

GARD:22195

Questions for Your Care Team

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hereditary angioedema with normal C1Inh

Overview

Diagnosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications