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angioedema, hereditary, 4 (HAE4) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

angioedema, hereditary, 4

MONDO:0025712

Also known as:HAE4

Overview

GeneticsAutosomal dominant · PLG (chr 6)

Clinical Presentation

Features include: Angioedema, Facial edema, Swollen lip, and Laryngeal edema.

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

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Genetic Landscape

PLG function has not been fully characterized.

Angioedema, hereditary, 4 is associated with mutations in the PLG gene on chromosome 6.

Diagnosis

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

Biomarker and diagnostic research for angioedema, hereditary, 4 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 angioedema, hereditary, 4.

164 publications have been identified in PubMed for angioedema, hereditary, 4. Kisho has analyzed 107 by research type. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (26%), and Review / Meta-Analysis (20%).

Research Type	Count	% of Total
Disease patterns and progression	30	28%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:00 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619360

Questions for Your Care Team

→Should I pursue genetic testing for PLG, 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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angioedema, hereditary, 4

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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