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GTR Home > Conditions/Phenotypes > Angioedema, hereditary, 8

Angioedema, hereditary, 8

Summary

Hereditary angioedema-8 (HAE8) is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localized edema in various organs, including the face, tongue, larynx, and extremities. In rare cases, swelling of the tongue or larynx can lead to airway obstruction. Abdominal attacks may also occur, resulting in abdominal pain, vomiting, and diarrhea. The disorder results from enhanced vascular permeability (summary by Bork et al., 2021). For a discussion of genetic heterogeneity of HAE, 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: 3-OST-6, 3OST6, HAE8, HS3ST5, HS3ST6
    Summary: heparan sulfate-glucosamine 3-sulfotransferase 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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