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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].

From: Inherited multicentric osteolysis: case report of three siblings treated with bisphosphonate

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
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