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angioedema, hereditary, 8 (HAE8) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

angioedema, hereditary, 8

MONDO:0030298

Also known as:HAE8

Overview

GeneticsAutosomal dominant · HS3ST6 (chr 16)

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: Diarrhea, Angioedema, Facial edema, and Episodic vomiting and 4 more.

Organ System	Phenotype Count	Example Features
Digestive system	3	Diarrhea, Episodic vomiting, Abdominal pain
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.

HS3ST6 encodes heparan sulfate-glucosamine 3-sulfotransferase 6 (342 aa). Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) to catalyze the transfer of a sulfo group to heparan sulfate.

Angioedema, hereditary, 8 is associated with mutations in the HS3ST6 gene on chromosome 16.

HS3ST6 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for HS3ST6 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for angioedema, hereditary, 8 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, 8.

132 publications have been identified in PubMed for angioedema, hereditary, 8. Kisho has analyzed 30 by research type. Research spans Clinical Trial Publication (43%), Review / Meta-Analysis (27%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Clinical study results	13	43%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619367

Questions for Your Care Team

→Should I pursue genetic testing for HS3ST6, 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, 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

angioedema, hereditary, 8

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications