Skip to main content

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

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

    Â