KEGG   DISEASE: Neural tube defects, folate-sensitive
Entry
H00262                      Disease                                
Name
Neural tube defects, folate-sensitive
  Subgroup
Spina bifida, folate-sensitive
  Supergrp
Neural tube defects [DS:H02563]
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the nervous system
    LA02  Spina bifida
     H00262  Neural tube defects, folate-sensitive
Pathway-based classification of diseases [BR:br08402]
 Amino acid metabolism
  nt06037  Histidine metabolism
   H00262  Neural tube defects, folate-sensitive
 Cofactor/vitamin metabolism
  nt06538  Cobalamin transport and metabolism
   H00262  Neural tube defects, folate-sensitive
Pathway
hsa00670  One carbon pool by folate
Network
nt06037 Histidine metabolism
nt06538 Cobalamin transport and metabolism
Gene
MTHFR [HSA:4524] [KO:K25004]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
Other DBs
ICD-11: LA02
ICD-10: Q05
MeSH: D016135
OMIM: 601634
Reference
PMID:17963270
  Authors
Beaudin AE, Stover PJ
  Title
Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression.
  Journal
Birth Defects Res C Embryo Today 81:183-203 (2007)
DOI:10.1002/bdrc.20100
Reference
PMID:19120526 (MTHFR)
  Authors
Kondo A, Kamihira O, Ozawa H
  Title
Neural tube defects: prevalence, etiology and prevention.
  Journal
Int J Urol 16:49-57 (2009)
DOI:10.1111/j.1442-2042.2008.02163.x
Reference
PMID:12375236 (MTR, MTRR)
  Authors
Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE
  Title
Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida.
  Journal
Am J Hum Genet 71:1222-6 (2002)
DOI:10.1086/344209
Reference
PMID:16315005 (MTHFD1)
  Authors
De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V
  Title
Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk.
  Journal
J Hum Genet 51:98-103 (2006)
DOI:10.1007/s10038-005-0329-6

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Network (6)   
   KEGG NETWORK (2)   
   KEGG VARIANT (4)   
Disease (1)   
   OMIM (1)   
Gene (8)   
   KEGG ORTHOLOGY (4)   
   KEGG GENES (4)   
Literature (4)   
   PubMed (4)   
All databases (19)   

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