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


Lee et al. Pediatric Rheumatology 2010 8:12   doi:10.1186/1546-0096-8-12

Open Data