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
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00262  Spina bifida
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  Spina bifida
BRITE hierarchy
Pathway
hsa00670  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]
Comment
See also H01561 Chiari malformation.
Other DBs
ICD-11: LA02
ICD-10: Q05
MeSH: D016135 D008591
OMIM: 182940 601634
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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