KEGG   DISEASE: 葉酸感受性神経管欠損症
エントリ  
H00262                                                             
名称    
葉酸感受性神経管欠損症
  下位グループ
葉酸感受性二分脊椎症
  上位グループ
神経管欠損症 [DS:H02563]
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. It has been demonstrated that folate status is a significant determinant of NTD risk. The genetic studies have shown the relationships of folate-related genes. Maternal supplementation with folic acid is the most effective measure known to prevent NTDs.
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
     H00262  葉酸感受性神経管欠損症
パスウェイに基づく疾患分類 [BR:jp08402]
 アミノ酸代謝
  nt06037  ヒスチジンの代謝
   H00262  葉酸感受性神経管欠損症
 補因子・ビタミン代謝
  nt06538  コバラミンの輸送と代謝
   H00262  葉酸感受性神経管欠損症
指定難病 [jp08407.html]
 H00262
パスウェイ 
hsa00670  One carbon pool by folate
ネットワーク
nt06037 Histidine metabolism
nt06538 Cobalamin transport and metabolism
病因遺伝子 
MTHFR [HSA:4524] [KO:K25004]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
リンク   
ICD-11: LA02
ICD-10: Q05
MeSH: D016135
OMIM: 601634
文献    
  著者
Beaudin AE, Stover PJ
  タイトル
Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression.
  雑誌
Birth Defects Res C Embryo Today 81:183-203 (2007)
DOI:10.1002/bdrc.20100
文献    
PMID:19120526 (MTHFR)
  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    
PMID:12375236 (MTR, MTRR)
  著者
Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE
  タイトル
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.
  雑誌
Am J Hum Genet 71:1222-6 (2002)
DOI:10.1086/344209
文献    
PMID:16315005 (MTHFD1)
  著者
De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V
  タイトル
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
  雑誌
J Hum Genet 51:98-103 (2006)
DOI:10.1007/s10038-005-0329-6
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