KEGG   DISEASE: 頭蓋縫合早期癒合症
エントリ  
H02160                                                             
名称    
頭蓋縫合早期癒合症
概要    
Craniosynostosis (CRS) is the premature fusion of the cranial sutures and secondary distortion of skull shape.
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
     H02160  頭蓋縫合早期癒合症
病因遺伝子 
(CRS1) TWIST1 [HSA:7291] [KO:K09069]
(CRS2) MSX2 [HSA:4488] [KO:K09341]
(CRS3) TCF12 [HSA:6938] [KO:K15603]
(CRS4) ERF [HSA:2077] [KO:K09434]
(CRS5) ALX4 [HSA:60529] [KO:K09451]
(CRS6) ZIC1 [HSA:7545] [KO:K09224]
(CRS7) SMAD6 [HSA:4091] [KO:K04677]
リンク   
ICD-11: LB70.0
MeSH: D003398
OMIM: 123100 604757 615314 600775 615529 616602 617439
文献    
  著者
Johnson D, Wilkie AO
  タイトル
Craniosynostosis.
  雑誌
Eur J Hum Genet 19:369-76 (2011)
DOI:10.1038/ejhg.2010.235
文献    
PMID:23438589 (CRS1, CRS3, CRS4)
  著者
Fitzpatrick DR
  タイトル
Filling in the gaps in cranial suture biology.
  雑誌
Nat Genet 45:231-2 (2013)
DOI:10.1038/ng.2557
文献    
PMID:8106171 (CRS2)
  著者
Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al.
  タイトル
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
  雑誌
Cell 75:443-50 (1993)
DOI:10.1016/0092-8674(93)90379-5
文献    
PMID:22829454 (CRS5)
  著者
Yagnik G, Ghuman A, Kim S, Stevens CG, Kimonis V, Stoler J, Sanchez-Lara PA, Bernstein JA, Naydenov C, Drissi H, Cunningham ML, Kim J, Boyadjiev SA
  タイトル
ALX4 gain-of-function mutations in nonsyndromic craniosynostosis.
  雑誌
Hum Mutat 33:1626-9 (2012)
DOI:10.1002/humu.22166
文献    
PMID:26340333 (CRS6)
  著者
Twigg SR, Forecki J, Goos JA, Richardson IC, Hoogeboom AJ, van den Ouweland AM, Swagemakers SM, Lequin MH, Van Antwerp D, McGowan SJ, Westbury I, Miller KA, Wall SA, van der Spek PJ, Mathijssen IM, Pauws E, Merzdorf CS, Wilkie AO
  タイトル
Gain-of-Function Mutations in ZIC1 Are Associated with Coronal Craniosynostosis and Learning Disability.
  雑誌
Am J Hum Genet 97:378-88 (2015)
DOI:10.1016/j.ajhg.2015.07.007
文献    
PMID:27606499 (CRS7)
  著者
Timberlake AT, Choi J, Zaidi S, Lu Q, Nelson-Williams C, Brooks ED, Bilguvar K, Tikhonova I, Mane S, Yang JF, Sawh-Martinez R, Persing S, Zellner EG, Loring E, Chuang C, Galm A, Hashim PW, Steinbacher DM, DiLuna ML, Duncan CC, Pelphrey KA, Zhao H, Persing JA, Lifton RP
  タイトル
Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles.
  雑誌
Elife 5:e20125 (2016)
DOI:10.7554/eLife.20125
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