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Neural tube defects, folate-sensitive(NTDFS)

MedGen UID:
355746
Concept ID:
C1866558
Disease or Syndrome
Synonyms: NTD, FOLATE-SENSITIVE; NTDFS
 
Genes (locations): MTHFD1 (14q23.3); MTHFR (1p36.22); MTR (1q43); MTRR (5p15.31)
OMIM®: 601634

Definition

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 GTR]

Additional descriptions

From OMIM
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.  http://www.omim.org/entry/601634
From GHR
Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is affected. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the nerves do not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.  https://ghr.nlm.nih.gov/condition/spina-bifida

Clinical features

Neural tube defect
MedGen UID:
18009
Concept ID:
C0027794
Congenital Abnormality
Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism.
Abnormality of metabolism/homeostasis
MedGen UID:
867398
Concept ID:
C4021768
Finding

Recent clinical studies

Etiology

Li K, Wahlqvist ML, Li D
Nutrients 2016 Nov 23;8(11) doi: 10.3390/nu8110741. PMID: 27886045Free PMC Article
Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A
Birth Defects Res A Clin Mol Teratol 2016 Aug;106(8):685-95. Epub 2016 May 11 doi: 10.1002/bdra.23517. PMID: 27166990Free PMC Article
Bergman JE, Otten E, Verheij JB, de Walle HE
Reprod Toxicol 2016 Jan;59:96-100. Epub 2015 Nov 25 doi: 10.1016/j.reprotox.2015.11.007. PMID: 26627544
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Wilson RD; Genetics Committee., Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L, Gagnon A, Johnson JA, Langlois S, Murphy-Kaulbeck L, Okun N, Pastuck M; Special Contributors., Deb-Rinker P, Dodds L, Leon JA, Lowel HL, Luo W, MacFarlane A, McMillan R, Moore A, Mundle W, O'Connor D, Ray J, Van den Hof M
J Obstet Gynaecol Can 2015 Jun;37(6):534-52. PMID: 26334606

Diagnosis

Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A
Birth Defects Res A Clin Mol Teratol 2016 Aug;106(8):685-95. Epub 2016 May 11 doi: 10.1002/bdra.23517. PMID: 27166990Free PMC Article
Bergman JE, Otten E, Verheij JB, de Walle HE
Reprod Toxicol 2016 Jan;59:96-100. Epub 2015 Nov 25 doi: 10.1016/j.reprotox.2015.11.007. PMID: 26627544
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Wilson RD; Genetics Committee., Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L, Gagnon A, Johnson JA, Langlois S, Murphy-Kaulbeck L, Okun N, Pastuck M; Special Contributors., Deb-Rinker P, Dodds L, Leon JA, Lowel HL, Luo W, MacFarlane A, McMillan R, Moore A, Mundle W, O'Connor D, Ray J, Van den Hof M
J Obstet Gynaecol Can 2015 Jun;37(6):534-52. PMID: 26334606
Herrmann W, Obeid R
Dtsch Arztebl Int 2011 Apr;108(15):249-54. Epub 2011 Apr 15 doi: 10.3238/arztebl.2011.0249. PMID: 21556262Free PMC Article

Therapy

Li K, Wahlqvist ML, Li D
Nutrients 2016 Nov 23;8(11) doi: 10.3390/nu8110741. PMID: 27886045Free PMC Article
Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A
Birth Defects Res A Clin Mol Teratol 2016 Aug;106(8):685-95. Epub 2016 May 11 doi: 10.1002/bdra.23517. PMID: 27166990Free PMC Article
Bergman JE, Otten E, Verheij JB, de Walle HE
Reprod Toxicol 2016 Jan;59:96-100. Epub 2015 Nov 25 doi: 10.1016/j.reprotox.2015.11.007. PMID: 26627544
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Wilson RD; Genetics Committee., Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L, Gagnon A, Johnson JA, Langlois S, Murphy-Kaulbeck L, Okun N, Pastuck M; Special Contributors., Deb-Rinker P, Dodds L, Leon JA, Lowel HL, Luo W, MacFarlane A, McMillan R, Moore A, Mundle W, O'Connor D, Ray J, Van den Hof M
J Obstet Gynaecol Can 2015 Jun;37(6):534-52. PMID: 26334606

Prognosis

Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Stern J, Larsson M, Kristiansson P, Tydén T
Hum Reprod 2013 Sep;28(9):2450-61. Epub 2013 Jul 10 doi: 10.1093/humrep/det279. PMID: 23842564Free PMC Article

Clinical prediction guides

Yang N, Wang L, Finnell RH, Li Z, Jin L, Zhang L, Cabrera RM, Ye R, Ren A
Birth Defects Res A Clin Mol Teratol 2016 Aug;106(8):685-95. Epub 2016 May 11 doi: 10.1002/bdra.23517. PMID: 27166990Free PMC Article
Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Wilson RD; Genetics Committee., Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L, Gagnon A, Johnson JA, Langlois S, Murphy-Kaulbeck L, Okun N, Pastuck M; Special Contributors., Deb-Rinker P, Dodds L, Leon JA, Lowel HL, Luo W, MacFarlane A, McMillan R, Moore A, Mundle W, O'Connor D, Ray J, Van den Hof M
J Obstet Gynaecol Can 2015 Jun;37(6):534-52. PMID: 26334606
Stern J, Larsson M, Kristiansson P, Tydén T
Hum Reprod 2013 Sep;28(9):2450-61. Epub 2013 Jul 10 doi: 10.1093/humrep/det279. PMID: 23842564Free PMC Article

Recent systematic reviews

Chitayat D, Matsui D, Amitai Y, Kennedy D, Vohra S, Rieder M, Koren G
J Clin Pharmacol 2016 Feb;56(2):170-5. Epub 2015 Nov 5 doi: 10.1002/jcph.616. PMID: 26272218Free PMC Article
Wilson RD; Genetics Committee., Wilson RD, Audibert F, Brock JA, Carroll J, Cartier L, Gagnon A, Johnson JA, Langlois S, Murphy-Kaulbeck L, Okun N, Pastuck M; Special Contributors., Deb-Rinker P, Dodds L, Leon JA, Lowel HL, Luo W, MacFarlane A, McMillan R, Moore A, Mundle W, O'Connor D, Ray J, Van den Hof M
J Obstet Gynaecol Can 2015 Jun;37(6):534-52. PMID: 26334606
Herrmann W, Obeid R
Dtsch Arztebl Int 2011 Apr;108(15):249-54. Epub 2011 Apr 15 doi: 10.3238/arztebl.2011.0249. PMID: 21556262Free PMC Article

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