Table 1.
Human Mendelian disorders resulting from mutations in ADAMTS proteins. Essentially similar disorders resulting from FBN1 mutations are underlined.
| Mendelian disorder | MIM # | Gene name (chromosomal locus) | Mode of inheritance |
|---|---|---|---|
| Weill–Marchesani syndrome 1 | 277600 | ADAMTS10 (19p13.2) | Autosomal recessive |
| Weill–Marchesani-like syndrome | 613195 | ADAMTS17 (15q26.3) | Autosomal recessive |
| Geleophysic dysplasia 1 | 231050 | ADAMTSL2 (9q34.2) | Autosomal recessive |
| Isolated ectopia lentis 2 | 225100 | ADAMTSL4 (1q21.3) | Autosomal recessive |
| Ectopia lentis et pupillae | 225200 | ||
| Isolated ectopia lentis 1 | 129600 | FBN1 (15q21) | Autosomal dominant |
| Weill–Marchesani syndrome 2 | 608328 | ||
| Geleophysic dysplasia 2 | 614185 | ||
| Marfan syndrome | 154700 | ||
| MASS syndrome (mitral valve, aorta, skin, skeletal) | 604308 | ||
| Acromicric dysplasia | 102370 | ||
| Stiff skin syndrome | 184900 |