Table 1.
Name of disorder | Inheritance | MIM | Locus | Gene | Protein | MIM | Notes |
---|---|---|---|---|---|---|---|
Familial expansile osteolysis | AD | 174810 | 18q22.1 | TNFRSF11A | RANK | 603499 | |
Infantile systemic hyalinosis | AR | 236490 | 4q21 | CMG2 | Capillary morphogenesis gene 2 | 608041 | Incl. Juvenile hyaline fibromatosis (JHF, 228600) and Puretic syndrome |
Mandibuloacral dysplasia type A | AR | 248370 | 1q21.2 | LMNA | Lamin A/C | 150330 | |
Progeria, Hutchinson-Gilford type | AD | 176670 | 1q21.2 | LMNA | Lamin A/C | 150330 | |
Mandibuloacral dysplasia type B | AR | 608612 | 1p34 | ZMPSTE24 | Zinc metalloproteinase | 606480 | |
Torg-Winchester syndrome | AR | 259600 277950 |
16q13 | MMP2 | Matrix metalloproteinase 2 | 120360 | Incl. Nodulosis-Arthropathy-Osteolysis syndrome (MIM 605156) |
Hadju-Cheney syndrome | AD | 102500 | |||||
Multicentric carpal-tarsal osteolysis with and without nephropathy | AD | 166300 |