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GTR Home > Conditions/Phenotypes > Angioedema, hereditary, 7

Angioedema, hereditary, 7

Summary

Hereditary angioedema-7 (HAE7) is an autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. The disorder is due to abnormal vascular permeability (summary by Ariano et al., 2020). 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: FER1L3, HAE7, MYOF
    Summary: myoferlin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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