|
| Classification | Frequency | Gene name | Gene symbol | Inher. |
|
| Nonsyndromic |
| Aortic aneurysm, familial thoracic 1 (AAT1) | Rare | — | Chr.11q23.3-q24 | AD |
| Aortic aneurysm, familial thoracic 1 (AAT2) | Rare | — | Chr.5q13-q14 | AD |
| Aortic aneurysm, familial thoracic 3 (AAT3) | 3% of TAA | Transforming growth factor-beta receptor, type II | TGFBR2 | AD |
| Aortic aneurysm, familial thoracic 4 (AAT4) | 1-2% of TAA | Myosin, heavy chain 11, smooth muscle | MYH11 | AD |
| Aortic aneurysm, familial thoracic 5 (AAT5) | 2% of TAA | Transforming growth factor-beta receptor, type I | TGFBR1 | AD |
| Aortic aneurysm, familial thoracic 6 (AAT6) | 10–15% of TAA | Actin, alpha-2, smooth muscle, and aorta | ACTA2 | AD |
| Aortic aneurysm, familial thoracic 7 (AAT7) | 1% of TAA | Myosin light chain kinase | MYLK | AD |
| Aortic aneurysm, familial thoracic 7 (AAT8) | Rare | Protein kinase, cGMP-dependent, regulatory, and type I | PRKG1 | AD |
|
| Syndromic |
| Marfan syndrome | 1 : 5,000–10,000 | Fibrillin 1 | FBN1 | AD |
| Loeys-Dietz syndrome 1 | Rare | Transforming growth factor-beta receptor, type I | TGFBR1 | AD |
| Loeys-Dietz syndrome 2 | Rare | Transforming growth factor-beta receptor, type II | TGFBR2 | AD |
| Loeys-Dietz syndrome 3 or aneurysm osteoarthritis syndrome | Rare | Mothers against decapentaplegic homolog 3 | SMAD3 | AD |
| Loeys-Dietz syndrome 4 | Rare | Transforming growth factor-beta 2 | TGFB2 | AD |
| Loeys-Dietz syndrome 5 | Rare | Transforming growth factor-beta 3 | TGFB3 | AD |
| Vascular Ehlers-Danlos syndrome | 1 : 100,000 | Collagen, type III, alpha-1 | COL3A1 | AD |
| Arterial tortuosity syndrome | Rare | Solute carrier family 2 (facilitated glucose transporter), member 10 | SLC2A10 | AR |
|
