KEGG DISEASE: Neural tube defects

KEGG

DISEASE: Neural tube defects

Entry

H02563                      Disease

Name

Neural tube defects

Subgroup

Neural tube defects, folate-sensitive [DS:H00262]
Anencephaly [DS:H02120]
Spina bifida
Myelomeningocele
Myeloschisis

Description

Neural tube defects (NTDs) represent a common group of severe congenital malformations that result from failure of neural tube closure during early development. Their etiology is quite complex involving environmental and genetic factors. The most common and most severe NTDs include spina bifida (myelomeningocele) and anencephaly. Spina bifida is caused by failure of posterior neural tube closure resulting in exposure and/or herniation of the spinal cord. Anencephaly is caused by failure of anterior neural tube closure.

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
     H02563  Neural tube defects

Pathway

Wnt signaling pathway

Gene

VANGL1 [HSA:81839] [KO:K04510]
VANGL2 [HSA:57216] [KO:K04510]
TBXT [HSA:6862] [KO:K10172]
CCL2 [HSA:6347] [KO:K14624]
FUZ [HSA:80199] [KO:K22861]

Other DBs

ICD-11:

ICD-10:

MeSH:

D016135 D008591

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

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

PMID:34014041 (VANGL1)

Authors

Cheng C, Zhao S, Zhu X, Yang F, Wang W, Feng Q, Liu Y, Huang H, Chen X

Title

The VANGL1 P384R variant cause both neural tube defect and Klippel-Feil syndrome.

Journal

Mol Genet Genomic Med 9:e1710 (2021)
DOI:10.1002/mgg3.1710

Reference

PMID:20558380 (VANGL2)

Authors

Lei YP, Zhang T, Li H, Wu BL, Jin L, Wang HY

Title

VANGL2 mutations in human cranial neural-tube defects.

Journal

N Engl J Med 362:2232-5 (2010)
DOI:10.1056/NEJMc0910820

Reference

PMID:26210634 (TBXT)

Authors

Shaheen R, Alshail E, Alaqeel A, Ansari S, Hindieh F, Alkuraya FS

Title

T (brachyury) is linked to a Mendelian form of neural tube defects in humans.

Journal

Hum Genet 134:1139-41 (2015)
DOI:10.1007/s00439-015-1589-7

Reference

PMID:18937353 (CCL2)

Authors

Lu ZY, Morales M, Khartulyari S, Mei M, Murphy KM, Stanislawska-Sachadyn A, Summers CM, Huang Y, Von Feldt JM, Blair IA, Mitchell LE, Whitehead AS

Title

Genetic and biochemical determinants of serum concentrations of monocyte chemoattractant protein-1, a potential neural tube defect risk factor.

Journal

Birth Defects Res A Clin Mol Teratol 82:736-41 (2008)
DOI:10.1002/bdra.20507

Reference

PMID:21840926 (FUZ)

Authors

Seo JH, Zilber Y, Babayeva S, Liu J, Kyriakopoulos P, De Marco P, Merello E, Capra V, Gros P, Torban E

Title

Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans.

Journal

Hum Mol Genet 20:4324-33 (2011)
DOI:10.1093/hmg/ddr359

LinkDB

» Japanese version

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