KEGG   DISEASE: 三角頭蓋症
エントリ  
H01207                                                             
名称    
三角頭蓋症
概要    
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly.
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
    LB70  頭蓋の構造的発達異常
     H01207  三角頭蓋症
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06548  インテグリンシグナリング
   H01207  三角頭蓋症
パスウェイ 
hsa04512  ECM-receptor interaction
hsa04810  Regulation of actin cytoskeleton
hsa04520  Adherens junction
hsa04010  MAPK signaling pathway
hsa04518  Integrin signaling
ネットワーク
nt06548 Integrin signaling
病因遺伝子 
(TRIGNO1) FGFR1 [HSA:2260] [KO:K04362]
(TRIGNO2) FREM1 [HSA:158326] [KO:K23380]
リンク   
ICD-11: LB70.0Y
MeSH: D003398
OMIM: 190440 614485
文献    
  著者
Shimoji T, Tomiyama N
  タイトル
Mild trigonocephaly and intracranial pressure: report of 56 patients.
  雑誌
Childs Nerv Syst 20:749-56 (2004)
DOI:10.1007/s00381-004-0970-y
文献    
PMID:11173846 (FGFR1)
  著者
Kress W, Petersen B, Collmann H, Grimm T
  タイトル
An unusual FGFR1 mutation (fibroblast growth factor receptor 1 mutation) in a girl with non-syndromic trigonocephaly.
  雑誌
Cytogenet Cell Genet 91:138-40 (2000)
DOI:10.1159/000056834
文献    
PMID:21931569 (FREM1)
  著者
Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T
  タイトル
Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice.
  雑誌
PLoS Genet 7:e1002278 (2011)
DOI:10.1371/journal.pgen.1002278
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