Table 1. Overview of diseases and genes associated with thoracic aortic aneurysm.
| Disease | OMIM# of disease | Orpha number of disease | Associated gene(s) | OMIM# of associated gene(s) |
|---|---|---|---|---|
| Aortic aneurysm, familial thoracic (AAT); Aneurysm, thoracic aortic; aortic dissection, familial; thoracic aortic aneurysm and dissection, familial | 615436 (AAT8) | 91387 | PRKG1 | 176894 |
| 613780 (AAT7) | 91387 | MYLK | 600922 | |
| 611788 (AAT6) | 91387 | ACTA2 | 102620 | |
| 132900 (AAT4) | 91387 | MYH11 | 160745 | |
| Alport syndrome, X-linked (ATSa) | 301050 | 88917 | COL4A5 | 303630 |
| Aortic valve disease 1 (AOVD1); bicuspid aortic valve | 109730 | 402075 | NOTCH1 | 190198 |
| Arterial tortuosity syndrome (ATSa) | 208050 | 3342 | SLC2A10 | 606145 |
| Contractural arachnodactyly, congenital, Beals syndrome (CCA) | 121050 | 115 | FBN2 | 612570 |
| Cutis laxa, autosomal dominant 1 (ADCL1) | 123700 | 90348 | ELN | 130160 |
| Cutis laxa, autosomal recessive, type 1B (ARCL1B) | 614437 | 90349 | EFEMP2 | 604633 |
| Ehlers–Danlos syndrome, classical type/type I (EDS I) | 130000 | 90309 | COL1A1 | 120150 |
| COL5A1 | 120215 | |||
| COL5A2 | 120190 | |||
| Ehlers–Danlos syndrome, classical type/type II (EDS II) | 130010 | 90318 | COL5A1 | 120215 |
| 130010 | 90318 | COL5A2 | 120190 | |
| Ehlers–Danlos syndrome, vascular type/type IV (EDS IV) | 130050 | 286 | COL3A1 | 120180 |
| Ehlers–Danlos syndrome, kyphoskoliotic type/type VI (EDS VI) | 225400 | 1900 | PLOD1 | 153454 |
| Ehlers–Danlos syndrome, arthrochalasic type/type VIIA (EDS VIIA) | 130060 | 1899 | COL1A1 | 120150 |
| Familial thoracic aortic aneurysm and aortic dissection | 91387 | TGFB2 | 190220 | |
| Heterotopia, periventricular, Ehlers–Danlos variant (PVNH4) | 300537 | 82004 | FLNA | 300017 |
| Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (JPHT) | 175050 | 2929 | SMAD4 | 600993 |
| Loeys–Dietz syndrome type 1, Furlong syndrome (LDS1/FS/AAT5) | 609192 | 60030 | TGFBR1 | 190181 |
| Loeys–Dietz syndrome type 2, Marfan syndrome type 2 (LDS2/MFS2/AAT3) | 610168 | 60030 | TGFBR2 | 190182 |
| Loeys–Dietz syndrome type 3, Aneurysm osteoarthritis syndrome (LDS3/AOS) | 613795 | 284984 | SMAD3 | 603109 |
| Loeys–Dietz syndrome type 4 (LDS4) | 614816 | TGFB2 | 190220 | |
| Marfan syndrome (MFS) | 154700 | 558 | FBN1 | 134797 |
| Moyamoya disease 5 (MYMY5) | 614042 | 2573 | ACTA2 | 102620 |
| Shprintzen–Goldberg craniosynostosis syndrome (SGS) | 182212 | 2462 | SKI | 164780 |
Note: the nomenclature of diseases associated with thoracic aortic aneurysm is in part controversial.15, 16 This CUGC does not attempt to resolve these controversies. In this table, both OMIM and Orpha numbers are given together with their alternative disease designations in the first column.
a
ATS is used in OMIM as a symbol for both conditions.