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GTR Home > Conditions/Phenotypes > Angioedema, hereditary, 6

Angioedema, hereditary, 6

Summary

Hereditary angioedema-6 (HAE6) is an autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. The face, mouth, and tongue are often affected; some patients have distal limb or abdominal edema. Levels of complement component inhibitor (C1INH; 606860) are normal (summary by Bork et al., 2019). 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: BDK, BK, HAE6, HK, HMWK, KNG, KNG1
    Summary: kininogen 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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