| H00262 | |
| H number | H00262 |
| Name | Neural tube defects, folate-sensitive |
| 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 |
| Network | nt06037(H00262) Histidine metabolism |
| Gene | MTHFR [HSA:4524] [KO:K25004] MTR [HSA:4548] [KO:K00548] MTRR [HSA:4552] [KO:K00597] MTHFD1 [HSA:4522] [KO:K00288] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| 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 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 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 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 |