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GTR Home > Conditions/Phenotypes > Neural tube defects, folate-sensitive


Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects. [from OMIM]

Available tests

78 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: CIMAH, MTHFC, MTHFD, MTHFD1
    Summary: methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

  • Also known as: , MTHFR
    Summary: methylenetetrahydrofolate reductase

  • Also known as: HMAG, MS, cblG, MTR
    Summary: 5-methyltetrahydrofolate-homocysteine methyltransferase

  • Also known as: MSR, cblE, MTRR
    Summary: 5-methyltetrahydrofolate-homocysteine methyltransferase reductase

Clinical features


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