Gene | Function | Disease | Phenotype |
---|---|---|---|
ADAMTS2 | Procollagen N propeptidase | EDS VIIC | Fragile skin, joint laxity |
ADAMTS10 | Unknown | Weill-Marchesani syndrome (WMS) | Short stature and extremities |
Thick skin | |||
Joint limitation | |||
Lens dislocation | |||
ADAMTS17 | Unknown | WMS-like syndrome 1 | Short stature |
Lens dislocation | |||
ADAMTS13 | Von Willebrand factor cleaving-protease | Thrombotic thrombocytopenic purpura | Capilliaries and arterioles (heart, brain, kidney) |
Thrombosis of short stature and extremeties | |||
Joint limitation | |||
Cardiac vascular disease | |||
ADAMTSL4 | Associated with regulating deposition of FBN1 into microfibrils | Ectopialentis | Lens dislocation |
ADAMTSL2 | Store/regulate latent TGFB in the extracellular matrix | EDS VIIC, Geleophysic dysplasia | Hypermobility, joint laxity |