KEGG   DISEASE: Spina bifidaHelp
Entry
H00262                      Disease                                

Name
Spina bifida;
Myelomeningocele;
Myeloschisis
Description
Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is a group of congenital defects of closure of one or more vertebral arches. NTDs can occur in two major forms: spina bifida aperta, which is the open-lesion NTD, and the closed-lesion NTD, more commonly known as spina bifida occulta. The genetic studies have shown the relationships of folate-related genes. Spina bifida aperta may be referred to as either myeloschisis or myelomeningocele. Myelomeningocele is when the spinal cord protrudes from the spinal canal into a fluid-filled sac resulting from incomplete closure of the primary neural tube. Myeloschisis is when the incomplete closure of the primary neural plate results in a cleft spinal cord with the edges flush with the defect. Myelomeningocele is usually associated with a type II Chiari hindbrain malformation, ventriculomegaly, and hydrocephalus.
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 [DR:D00070]
Comment
See also H01561 Chiari malformation.
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)
DOI:10.1111/j.1442-2042.2008.02163.x
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)
DOI:10.1002/bdrc.20100
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)
DOI:10.1111/j.1399-0004.2007.00793.x
Reference
  Authors
Mohd-Zin SW, Marwan AI, Abou Chaar MK, Ahmad-Annuar A, Abdul-Aziz NM
  Title
Spina Bifida: Pathogenesis, Mechanisms, and Genes in Mice and Humans.
  Journal
Scientifica (Cairo) 2017:5364827 (2017)
DOI:10.1155/2017/5364827

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