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angioedema, hereditary, 5 (HAE5) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

angioedema, hereditary, 5

MONDO:0030293

Also known as:HAE5

Overview

GeneticsAutosomal dominant · ANGPT1 (chr 8)

OnsetJUVENILE

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. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	2	Nailfold capillary tortuosity, Nail bed hemorrhage
Head and neck

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.

ANGPT1 encodes angiopoietin 1 (498 aa). Binds and activates TEK/TIE2 receptor by inducing its dimerization and tyrosine phosphorylation. Highest expression in Cells Cultured fibroblasts (49.2 TPM) and Artery Tibial (39.5 TPM).

Angioedema, hereditary, 5 is associated with mutations in the ANGPT1 gene on chromosome 8.

ANGPT1 is classified as a druggable target (Druggable Genome, Fibrinogen, and Kinase categories) with score 2.6.

Diagnosis

Genetic testing for ANGPT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for angioedema, hereditary, 5 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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, 5.

154 publications have been identified in PubMed for angioedema, hereditary, 5. Kisho has analyzed 115 by research type. Research spans Epidemiology / Natural History (30%), Clinical Trial Publication (23%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Disease patterns and progression	34	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619361

Questions for Your Care Team

→Should I pursue genetic testing for ANGPT1, 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, 5

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, 5

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