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GTR Home > Conditions/Phenotypes > Angioedema, hereditary, 5

Angioedema, hereditary, 5

Summary

Hereditary angioedema-5 (HAE5) is an autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Affected individuals have onset of episodic swelling of the face, lips, hands, and abdomen in the second decade of life. Treatment with tranexamic acid may be effective in reducing the severity and frequency of the attacks (summary by Bafunno et al., 2018). For a discussion of genetic heterogeneity of hereditary angioedema, see 106100. [from OMIM]

Available tests

1 test is in the database for this condition.

Clinical tests (1 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGP1, AGPT, AGPT-1, ANG1, HAE5, ANGPT1
    Summary: angiopoietin 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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