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

Rare Disease

hereditary angioedema with C1Inh deficiency

MONDO:0033946

Also known as:angioedema, hereditary, 1 and 2angioedema, hereditary, type 1/2C1 esterase inhibitor, deficiency of

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Overview

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.

GeneticsAutosomal recessive, Autosomal dominant · SERPING1 (chr 11)

Clinical Trials2 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Peripheral axonal neuropathy, Hypoesthesia, Reduced circulating CH50 activity, and Decreased circulating complement C4 concentration and others; and common findings: Laryngeal edema. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Diarrhea, Intestinal edema, Vomiting

Genetic Landscape

SERPING1 function has not been fully characterized.

Hereditary angioedema with C1Inh deficiency is caused by mutations in the SERPING1 gene on chromosome 11.

Diagnosis

Genetic testing for SERPING1 is available. Testing is considered confirmatory for diagnosis.

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

Prognosis

Phenotype severity distribution: 7 always present features, 1 common feature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy. Pipeline includes 1 PHASE3, 1 PHASE2. Research is primarily industry-sponsored.

75 publications have been identified in PubMed for hereditary angioedema with C1Inh deficiency. Research spans Case Report / Case Series (36%), Review / Meta-Analysis (25%), and Epidemiology / Natural History (17%).

Research Type	Count	% of Total
Patient case studies	27

Data assembled from 8 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:106100

Orphanet

European rare disease database

Orphanet:528623

GARD

Genetic and Rare Diseases Info Center

GARD:22194

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hereditary angioedema with C1Inh deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hereditary angioedema with C1Inh deficiency

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications