KEGG   DISEASE: 神経管欠損症
エントリ  
H02563                                                             
名称    
神経管欠損症
  下位グループ
葉酸感受性神経管欠損症 [DS:H00262]
無脳症 [DS:H02120]
二分脊椎症
脊髄髄膜瘤
脊髄裂
概要    
Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors. The most common and most severe NTDs include spina bifida (myelomeningocele) and anencephaly. Spina bifida is caused by failure of posterior neural tube closure resulting in exposure and/or herniation of the spinal cord. Anencephaly is caused by failure of anterior neural tube closure.
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
   神経系の構造的発達異常
    LA02  二分脊椎
     H02563  神経管欠損症
パスウェイ 
hsa04310  Wnt signaling pathway
病因遺伝子 
VANGL1 [HSA:81839] [KO:K04510]
VANGL2 [HSA:57216] [KO:K04510]
TBXT [HSA:6862] [KO:K10172]
CCL2 [HSA:6347] [KO:K14624]
FUZ [HSA:80199] [KO:K22861]
リンク   
ICD-11: LA02
MeSH: D016135 D008591
OMIM: 182940
文献    
  著者
Kondo A, Kamihira O, Ozawa H
  タイトル
Neural tube defects: prevalence, etiology and prevention.
  雑誌
Int J Urol 16:49-57 (2009)
DOI:10.1111/j.1442-2042.2008.02163.x
文献    
  著者
Kibar Z, Capra V, Gros P
  タイトル
Toward understanding the genetic basis of neural tube defects.
  雑誌
Clin Genet 71:295-310 (2007)
DOI:10.1111/j.1399-0004.2007.00793.x
文献    
PMID:34014041 (VANGL1)
  著者
Cheng C, Zhao S, Zhu X, Yang F, Wang W, Feng Q, Liu Y, Huang H, Chen X
  タイトル
The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.
  雑誌
Mol Genet Genomic Med 9:e1710 (2021)
DOI:10.1002/mgg3.1710
文献    
PMID:20558380 (VANGL2)
  著者
Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY
  タイトル
VANGL2 mutations in human cranial neural-tube defects.
  雑誌
N Engl J Med 362:2232-5 (2010)
DOI:10.1056/NEJMc0910820
文献    
PMID:26210634 (TBXT)
  著者
Shaheen R, Alshail E, Alaqeel A, Ansari S, Hindieh F, Alkuraya FS
  タイトル
T (brachyury) is linked to a Mendelian form of neural tube defects in humans.
  雑誌
Hum Genet 134:1139-41 (2015)
DOI:10.1007/s00439-015-1589-7
文献    
PMID:18937353 (CCL2)
  著者
Lu ZY, Morales M, Khartulyari S, Mei M, Murphy KM, Stanislawska-Sachadyn A, Summers CM, Huang Y, Von Feldt JM, Blair IA, Mitchell LE, Whitehead AS
  タイトル
Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor.
  雑誌
Birth Defects Res A Clin Mol Teratol 82:736-41 (2008)
DOI:10.1002/bdra.20507
文献    
PMID:21840926 (FUZ)
  著者
Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E
  タイトル
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.
  雑誌
Hum Mol Genet 20:4324-33 (2011)
DOI:10.1093/hmg/ddr359
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