Genes associated with connective tissue disorders
| Gene | Disorder | Number of patients tested for gene, n | Mutation present*, n |
|---|---|---|---|
| ABCC6 | Pseudoxanthoma elasticum | 3 | 0 |
| ACTA2 | Familial thoracic aortic aneurysm and dissection; multisystemic smooth muscle dysfunction syndrome | 44 | 0 |
| CBS | Homocystinuria | 20 | 0 |
| COL3A1 | Vascular Ehlers–Danlos syndrome | 52 | 5 |
| COL5A1 | Ehlers–Danlos syndrome | 6 | 0 |
| COL5A2 | Ehlers–Danols syndrome | 3 | 1 |
| FBN1 | Marfan syndrome; Weill–Marchesani syndrome; acromicric dysplasia; familial thoracic aortic aneurysm and dissection; mitral valve prolapse, aortic root diameter at upper limits of normal for body size, stretch marks of the skin and skeletal conditions (MASS syndrome) | 41 | 3 |
| FBN2 | Congenital contractural arachnodactyly | 20 | 0 |
| FLNA | Cardiac valvular dysplasia | 1 | 0 |
| MED12 | Lujan–Fryns syndrome, Ohdo syndrome, Opitz–Kaveggia syndrome | 1 | 0 |
| MTHFR | Homocystinuria, hypertension, deep venous thrombosis, peripheral arterial disease | 1 | 1 |
| MYLK | Familial thoracic aortic aneurysm | 7 | 0 |
| MYH11 | Familial thoracic aortic aneurysm and dissection | 40 | 5 |
| NOTCH1 | Aortic valve calcification, bicuspid aortic valve | 1 | 1 |
| PRKG1 | Familial thoracic aortic aneurysm | 1 | 0 |
| SCL2A10 | Arterial tortuosity syndrome | 38 | 0 |
| SKI | Shprintzen–Goldberg syndrome | 7 | 0 |
| SMAD3 | Loeys–Dietz syndrome type III | 40 | 0 |
| SMAD4 | Myhre syndrome | 1 | 0 |
| TGFB2 | Loeys–Dietz syndrome type IV | 18 | 0 |
| TGFBR1 | Loeys–Dietz syndrome type I | 48 | 1 |
| TGFBR2 | Loeys–Dietz syndrome type II, familial thoracic aortic aneurysm and dissection | 48 | 0 |
*Presence of mutation did not necessarily confer a diagnosis of connective tissue disorder unless mutation is known to be disease-causing.