| H00521 | |
| H number | H00521 |
| Name | Cleidocranial dysplasia |
| Description | Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, are the causes of the disease. |
| Category | Congenital malformation |
| Network | - |
| Gene | RUNX2 [HSA:860] [KO:K09278] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.2Y ICD-10: Q74.0 MeSH: D002973 OMIM: 119600 |
| Reference | PMID:8782054 AUTHORS Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S, Beighton P TITLE Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. JOURNAL J Med Genet 33:511-4 (1996) DOI:10.1136/jmg.33.6.511 PMID:20648631 AUTHORS Ott CE, Leschik G, Trotier F, Brueton L, Brunner HG, Brussel W, Guillen-Navarro E, Haase C, Kohlhase J, Kotzot D, Lane A, Lee-Kirsch MA, Morlot S, Simon ME, Steichen-Gersdorf E, Tegay DH, Peters H, Mundlos S, Klopocki E TITLE Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. JOURNAL Hum Mutat 31:E1587-93 (2010) DOI:10.1002/humu.21298 PMID:15952089 AUTHORS Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D TITLE Dysregulation of chondrogenesis in human cleidocranial dysplasia. JOURNAL Am J Hum Genet 77:305-12 (2005) DOI:10.1086/432261 |