| H00521 | |
| H番号 | H00521 |
| 名称 | 鎖骨頭蓋異形成症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | RUNX2 [HSA:860] [KO:K09278] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD24.2Y ICD-10: Q74.0 MeSH: D002973 OMIM: 119600 |
| 文献 | PMID:8782054 著者 Ramesar RS, Greenberg J, Martin R, Goliath R, Bardien S, Mundlos S, Beighton P タイトル Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) kindred and evidence for locus homogeneity. 雑誌 J Med Genet 33:511-4 (1996) DOI:10.1136/jmg.33.6.511 PMID:20648631 著者 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 タイトル Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia. 雑誌 Hum Mutat 31:E1587-93 (2010) DOI:10.1002/humu.21298 PMID:15952089 著者 Zheng Q, Sebald E, Zhou G, Chen Y, Wilcox W, Lee B, Krakow D タイトル Dysregulation of chondrogenesis in human cleidocranial dysplasia. 雑誌 Am J Hum Genet 77:305-12 (2005) DOI:10.1086/432261 |