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angioedema, hereditary, 6 (HAE6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

angioedema, hereditary, 6

MONDO:0023660

Also known as:HAE6

Overview

GeneticsAutosomal dominant · KNG1 (chr 3)

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: Angioedema; and very common findings: Facial edema and Swollen lip. 4 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Facial edema, Swollen lip
Arms and legs

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KNG1 encodes kininogen 1 (644 aa). Kininogens are inhibitors of thiol proteases. Highest expression in Liver (414.4 TPM) and Kidney Medulla (180.7 TPM).

Angioedema, hereditary, 6 is associated with mutations in the KNG1 gene on chromosome 3.

The KNG1 protein participates in KLKB1:KNG1:(C1QBP, C1QBP:KRT1, PLAUR:KRT1) and KLKB1:KNG1:(C1QBP,C1QBP:KRT1, PLAUR:KRT1):FXII pathways.

KNG1 is classified as a druggable target (Druggable Genome, Hormone Activity, and Protease Inhibitor categories) with score 13.1.

Diagnosis

Genetic testing for KNG1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for angioedema, hereditary, 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 1 common feature.

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 angioedema, hereditary, 6.

172 publications have been identified in PubMed for angioedema, hereditary, 6. Research spans Epidemiology / Natural History (26%), Clinical Trial Publication (22%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Disease patterns and progression	44	26%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 11:15 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619363

Questions for Your Care Team

→Should I pursue genetic testing for KNG1, and what would the results mean for my family?
→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

angioedema, hereditary, 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

angioedema, hereditary, 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications