| H00262 | |
| H番号 | H00262 |
| 名称 | 葉酸感受性神経管欠損症 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | nt06037(H00262) Histidine metabolism |
| 病因遺伝子 | MTHFR [HSA:4524] [KO:K25004] MTR [HSA:4548] [KO:K00548] MTRR [HSA:4552] [KO:K00597] MTHFD1 [HSA:4522] [KO:K00288] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LA02 ICD-10: Q05 MeSH: D016135 OMIM: 601634 |
| 文献 | PMID:17963270 著者 Beaudin AE, Stover PJ タイトル Folate-mediated one-carbon metabolism and neural tube defects: balancing genome synthesis and gene expression. 雑誌 Birth Defects Res C Embryo Today 81:183-203 (2007) DOI:10.1002/bdrc.20100 PMID:19120526 (MTHFR) 著者 Kondo A, Kamihira O, Ozawa H タイトル Neural tube defects: prevalence, etiology and prevention. 雑誌 Int J Urol 16:49-57 (2009) DOI:10.1111/j.1442-2042.2008.02163.x PMID:12375236 (MTR, MTRR) 著者 Doolin MT, Barbaux S, McDonnell M, Hoess K, Whitehead AS, Mitchell LE タイトル Maternal genetic effects, exerted by genes involved in homocysteine remethylation, influence the risk of spina bifida. 雑誌 Am J Hum Genet 71:1222-6 (2002) DOI:10.1086/344209 PMID:16315005 (MTHFD1) 著者 De Marco P, Merello E, Calevo MG, Mascelli S, Raso A, Cama A, Capra V タイトル Evaluation of a methylenetetrahydrofolate-dehydrogenase 1958G>A polymorphism for neural tube defect risk. 雑誌 J Hum Genet 51:98-103 (2006) DOI:10.1007/s10038-005-0329-6 |