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GTR Home > Conditions/Phenotypes > Aortic aneurysm, familial thoracic 6

Aortic aneurysm, familial thoracic 6

Synonyms
ACTA2-Related Thoracic Aortic Aneurysms and Aortic Dissections; FAMILIAL THORACIC AORTIC ANEURYSM WITH LIVEDO RETICULARIS AND IRIS FLOCCULI

Summary

Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene. [from MONDO]

Available tests

74 tests are in the database for this condition.

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Clinical tests (74 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ACTSA, SMDYS, ACTA2
    Summary: actin alpha 2, smooth muscle

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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