hereditary angioedema type III

Summary
Definition
A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.
Super Class
hereditary angioedema
Disease Ontology
DOID:0080940
Mondo Disease Ontology
MeSH
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2161 F12 coagulation factor XII
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P00748 Coagulation factor XII

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025