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aortic aneurysm, familial thoracic 6 | RareConnect | RareConnect.io

/multisystemic smooth muscle dysfunction syndrome

/familial thoracic aortic aneurysm and aortic dissection

/aortic aneurysm, familial thoracic 6

aortic aneurysm, familial thoracic 6

Rare Disease

MONDO:0012730

Also Known As

ACTA2 familial thoracic aortic aneurysm and aortic dissectionaortic aneurysm, familial thoracic 6aortic aneurysm, familial thoracic type 6familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2AAT6familial thoracic aortic aneurysm with livedo reticularis and iris flocculi

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:611788 ↗

GARD

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