Thoracic aortic aneurysm or dissection: genes and variants

Genes linked to Thoracic aortic aneurysm or dissection

• ACTA2: Actin, aortic smooth muscle

  Its smooth-muscle actin filaments generate contractile force in arteries and visceral organs and help maintain vascular-wall structure. Pathogenic variants are an important cause of familial thoracic aortic aneurysm and dissection and can also produce occlusive vascular disease.

  2 disease-causing and 0 uncertain variants in ACTA2 are linked to Thoracic aortic aneurysm or dissection.

• SLC2A10: Solute carrier family 2, facilitated glucose transporter member 10

  1 disease-causing and 0 uncertain variants in SLC2A10 are linked to Thoracic aortic aneurysm or dissection.

• TGFB2: Transforming growth factor beta-2 proprotein

  Its secreted signaling regulates extracellular matrix, cell differentiation, proliferation, and cardiovascular development. Haploinsufficiency causes a Loeys-Dietz-spectrum connective-tissue disorder with increased risk of thoracic aortic aneurysm and dissection.

  1 disease-causing and 0 uncertain variants in TGFB2 are linked to Thoracic aortic aneurysm or dissection.

Weakly linked (only a few uncertain records): FBN1, MYH11, TGFBR1 and TGFBR2.

Known disease-causing variants in Thoracic aortic aneurysm or dissection

Same protein, different disease

• Aortic aneurysm, familial thoracic 7 is also caused by ACTA2 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (20 disease-causing).
• Familial thoracic aortic aneurysm and aortic dissection is also caused by ACTA2 variants; they fall partly in the same places as the Thoracic aortic aneurysm or dissection variants (8 disease-causing).
• Multisystemic smooth muscle dysfunction syndrome is also caused by ACTA2 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (6 disease-causing).
• Familial aortopathy is also caused by ACTA2 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (5 disease-causing).
• Arterial tortuosity syndrome is also caused by SLC2A10 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (12 disease-causing).
• Familial thoracic aortic aneurysm and aortic dissection is also caused by SLC2A10 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (5 disease-causing).
• Familial aortopathy is also caused by SLC2A10 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (3 disease-causing).
• Loeys-Dietz syndrome is also caused by TGFB2 variants; they fall partly in the same places as the Thoracic aortic aneurysm or dissection variants (6 disease-causing).
• Familial thoracic aortic aneurysm and aortic dissection is also caused by TGFB2 variants; they fall mostly in different places as the Thoracic aortic aneurysm or dissection variants (5 disease-causing).

Diseases related to Thoracic aortic aneurysm or dissection

• Familial thoracic aortic aneurysm and aortic dissection, also linked to ACTA2, SLC2A10 and TGFB2
• Familial aortopathy, also linked to ACTA2 and SLC2A10
• Ehlers-Danlos syndrome, also linked to TGFB2
• Loeys-Dietz syndrome, also linked to TGFB2
• Atrial septal defect, also linked to TGFB2
• Aortic aneurysm, familial thoracic 7, also linked to ACTA2
• Isolated thoracic aortic aneurysm, also linked to ACTA2
• Arterial tortuosity syndrome, also linked to SLC2A10
• Familial hemophagocytic lymphohistiocytosis, also linked to SLC2A10
• Multisystemic smooth muscle dysfunction syndrome, also linked to ACTA2
• Myelodysplastic syndrome, also linked to TGFB2
• Moyamoya disease, also linked to ACTA2

Frequently asked questions

Which genes are linked to Thoracic aortic aneurysm or dissection?

In CATVariant, Thoracic aortic aneurysm or dissection is linked to 3 analyzed proteins: ACTA2 (Actin, aortic smooth muscle), SLC2A10 (Solute carrier family 2, facilitated glucose transporter member 10) and TGFB2 (Transforming growth factor beta-2 proprotein).

How many genetic variants are linked to Thoracic aortic aneurysm or dissection?

9 variants: 4 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 5 are of uncertain significance or have conflicting reports.

Which uncertain variants in Thoracic aortic aneurysm or dissection look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

Download every variant as CSV · Browse all diseases · Methods · About the Center