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. 2010 Apr 17;8:12. doi: 10.1186/1546-0096-8-12

Table 1.

New Nomenclature from Nosology and Classification of Genetic Skeletal Disorders (2006 Revision) Osteolysis group - adapted from International Skeletal Dysplasia Society with permission [4].

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