KEGG   DISEASE: 先天内反足
エントリ  
H00903                                                             
名称    
先天内反足
概要    
Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect during embryogenesis.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   骨格の構造的発達異常
    LB98  足の先天変形
     H00903  先天内反足
病因遺伝子 
PITX1 [HSA:5307] [KO:K09356]
リンク   
ICD-11: LB98.00
MeSH: D003025
OMIM: 119800
文献    
  著者
Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA
  タイトル
Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
  雑誌
Hum Mol Genet 20:3943-52 (2011)
DOI:10.1093/hmg/ddr313
文献    
  著者
Dobbs MB, Gurnett CA
  タイトル
Genetics of clubfoot.
  雑誌
J Pediatr Orthop B 21:7-9 (2012)
DOI:10.1097/BPB.0b013e328349927c
文献    
  著者
Dietz F
  タイトル
The genetics of idiopathic clubfoot.
  雑誌
Clin Orthop Relat Res 39-48 (2002)
DOI:10.1097/00003086-200208000-00007
文献    
  著者
Miedzybrodzka Z
  タイトル
Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.
  雑誌
J Anat 202:37-42 (2003)
DOI:10.1046/j.1469-7580.2003.00147.x
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