KEGG   DISEASE: H00262Help
Entry
H00262                      Disease                                

Name
Spina bifida
Description
Spina bifida is a group of congenital defects of closure of one or more vertebral arches. The genetic studies have shown the relationships of folate-related genes.
Category
Developmental disorder; Nervous system disease
Brite
Human diseases [BR:br08402]
 Other congenital disorders
  Congenital disorders of development
   H00262  Spina Bifida
Human diseases in ICD-10 classification [BR:br08403]
 17. Congenital malformations, deformations and chromosomal abnormalities (Q00-Q99)
  Q00-Q07  Congenital malformations of the nervous system
   Q05  Spina bifida
    H00262  Spina Bifida
BRITE hierarchy
Pathway
One carbon pool by folate
Gene
MTHFR [HSA:4524] [KO:K00297]
VANGL1 [HSA:81839] [KO:K04510]
MTR [HSA:4548] [KO:K00548]
MTRR [HSA:4552] [KO:K00597]
MTHFD1 [HSA:4522] [KO:K00288]
Drug
Folic acid [DG:DG00176]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
Kondo A, Kamihira O, Ozawa H
  Title
Neural tube defects: prevalence, etiology and prevention.
  Journal
Int J Urol 16:49-57 (2009)
Reference
  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)
Reference
  Authors
Kibar Z, Capra V, Gros P
  Title
Toward understanding the genetic basis of neural tube defects.
  Journal
Clin Genet 71:295-310 (2007)

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