Neural Tube Defects

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neural Tube Defects

MalaCards integrated aliases for Neural Tube Defects:

Name: Neural Tube Defects 53 37 49 71 13 51 40 41
Spina Bifida 53 37 12 72 49 24 50 71 36 28 51 40 3 14
Neural Tube Defect 12 28 14
Ntd 53 71 3
Spinal Dysraphism 49 24
Rachischisis 49 24
Cleft Spine 49 24
Open Spine 49 24
Neural Tube Defects, Susceptibility to 53
Spina Bifida, Susceptibility to 53
Dysraphism 49
Ntds 49



autosomal dominant form


neural tube defects:
Inheritance autosomal dominant inheritance


Summaries for Neural Tube Defects

NINDS : 50 Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

MalaCards based summary : Neural Tube Defects, also known as spina bifida, is related to neural tube defects, folate-sensitive and anencephaly, and has symptoms including hydrocephalus, multiple lipomas and spina bifida occulta. An important gene associated with Neural Tube Defects is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are One carbon pool by folate and Metabolism of water-soluble vitamins and cofactors. The drugs Acetylcholine and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and spinal cord, and related phenotypes are growth/size/body region and mortality/aging

Genetics Home Reference : 24 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.

NIH Rare Diseases : 49 Neural tube defects (NTDs) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. During the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. Specific examples of types of NTDs include spina bifida, anencephaly, and encephalocele. Symptoms vary depending on the type of NTD present but often include various forms of physical and/or mental disabilities. Many affected individuals do not survive. The exact cause of NTDs is not known but is thought to involve both genetic and nongenetic factors. Getting enough folic acid before and during pregnancy can reduce the risk of some NTDs. Treatment depends on the severity and type of defect and may include surgery. Last updated: 11/6/2013

OMIM : 53 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. (182940)

MedlinePlus : 40 Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal. The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you Have obesity Have poorly controlled diabetes Take certain antiseizure medicines Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects. Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development

CDC : 3 Spina bifida is a major birth defect of a person’s spine. With good quality medical care people with spina bifida can reach their full potential. If you have spina bifida, or know someone who does, it’s important to get the facts so that you can make the best possible health care choices.

UniProtKB/Swiss-Prot : 71 Neural tube defects: Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy. Failure of neural tube closure can occur at any level of the embryonic axis. Common NTD forms include anencephaly, myelomeningocele and spina bifida, which result from the failure of fusion in the cranial and spinal region of the neural tube. NTDs have a multifactorial etiology encompassing both genetic and environmental components.

Wikipedia : 72 Spina bifida is a birth defect where there is incomplete closing of the backbone and membranes around... more...

Related Diseases for Neural Tube Defects

Diseases related to Neural Tube Defects via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 35.2 MTHFD1 MTHFR MTR MTRR PARD3
2 anencephaly 33.1 AFP CELSR1 DACT1 MTHFD1 MTHFR MTR
3 craniorachischisis 33.0 CELSR1 DACT1 SCRIB VANGL2
4 omphalocele 31.1 AFP MTHFD1 SLC19A1
5 down syndrome 31.1 AFP CBS MTHFR MTRR
6 spina bifida occulta 30.8 MTHFR ZIC1
7 cleft lip 30.8 MTHFR MTR MTRR
8 myelomeningocele 30.7 CBS CELSR1 DACT1 MTHFD1 MTHFR MTR
9 homocystinuria 30.7 CBS MTHFR MTR MTRR
10 vascular disease 29.9 CBS CCL2 MTHFR MTR
11 neural tube defects, x-linked 12.4
12 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.2
13 diphallus rachischisis imperforate anus 11.9
14 tethered spinal cord syndrome 11.7
15 encephalocele 11.5
16 iniencephaly 11.4
17 meningocele 11.3
18 chiari malformation 11.3
19 fryns microphthalmia syndrome 11.0
20 limb-body wall complex 11.0
21 mthfr gene variant 11.0
22 schisis association 11.0
23 methylmalonic aciduria and homocystinuria type cble 10.8 MTR MTRR
24 methylmalonic aciduria and homocystinuria type cblg 10.8 MTR MTRR
25 methotrexate toxicity or dose selection 10.8 MTHFR SLC19A1
26 methylmalonic aciduria and homocystinuria, cblc type 10.8 CBS MTHFD1 MTR
27 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.8 MTHFR MTR
28 transcobalamin ii deficiency 10.7 MTHFR MTR MTRR
29 placental choriocarcinoma 10.7 MTHFD1 MTR SLC19A1
30 megaloblastic anemia 10.7 MTHFD1 MTHFR MTR MTRR
31 methylmalonic aciduria, cblb type 10.7 MTHFR MTR MTRR
32 amino acid metabolic disorder 10.7 CBS MTHFR MTR MTRR
33 sacral defect with anterior meningocele 10.7 FUZ VANGL1
34 nondisjunction 10.7 MTHFR MTRR
35 acute lymphoblastic leukemia, childhood 10.7 MTHFD1 MTHFR SLC19A1
36 upper thoracic spina bifida cystica 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
37 cervicothoracic spina bifida cystica 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
38 cervical spina bifida cystica 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
39 lumbosacral spina bifida cystica 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
40 thoracolumbosacral spina bifida cystica 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
41 total spina bifida cystica 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
42 upper thoracic spina bifida aperta 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
43 homocysteinemia 10.7 CBS MTHFR MTR MTRR SLC19A1
44 thoracolumbosacral spina bifida aperta 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
45 lens subluxation 10.7 CBS MTHFR
46 lumbosacral spina bifida aperta 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
47 cervical spina bifida aperta 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
48 holoprosencephaly 5 10.7 ZIC1 ZIC2
49 cervicothoracic spina bifida aperta 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
50 total spina bifida aperta 10.7 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2

Graphical network of the top 20 diseases related to Neural Tube Defects:

Diseases related to Neural Tube Defects

Symptoms & Phenotypes for Neural Tube Defects

Symptoms via clinical synopsis from OMIM:

spina bifida
spina bifida occulta
spinal dysraphism
urinary incontinence
neurologic signs in legs

Clinical features from OMIM:


Human phenotypes related to Neural Tube Defects:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 31 HP:0000238
2 multiple lipomas 31 HP:0001012
3 spina bifida occulta 31 HP:0003298
4 anencephaly 31 HP:0002323
5 myelomeningocele 31 HP:0002475
6 urinary incontinence 31 HP:0000020
7 asymmetry of spinal facet joints 31 HP:0008482

MGI Mouse Phenotypes related to Neural Tube Defects:

43 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 PARD3 PAX3 SCRIB SLC19A1 TBXT VANGL1
2 mortality/aging MP:0010768 10.3 AFP CELSR1 DACT1 FUZ ITPK1 MTHFD1
3 embryo MP:0005380 10.29 SLC19A1 TBXT VANGL1 VANGL2 ZIC2 CELSR1
4 cardiovascular system MP:0005385 10.22 DACT1 FUZ MTHFD1 PARD3 PAX3 SCRIB
5 limbs/digits/tail MP:0005371 10.18 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
6 nervous system MP:0003631 10.17 CELSR1 DACT1 FUZ ITPK1 MTHFD1 MTHFR
7 digestive/alimentary MP:0005381 10.1 DACT1 FUZ PAX3 SCRIB SLC19A1 TBXT
8 craniofacial MP:0005382 10.05 CELSR1 FUZ PAX3 SCRIB TBXT VANGL2
9 hearing/vestibular/ear MP:0005377 9.91 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
10 reproductive system MP:0005389 9.81 SCRIB SLC19A1 TBXT VANGL1 VANGL2 AFP
11 no phenotypic analysis MP:0003012 9.8 PAX3 SCRIB TBXT VANGL2 DACT1 MTHFR
12 skeleton MP:0005390 9.7 PAX3 TBXT VANGL1 VANGL2 ZIC1 ZIC2
13 vision/eye MP:0005391 9.23 CELSR1 FUZ MTHFR PARD3 PAX3 SCRIB

Drugs & Therapeutics for Neural Tube Defects

Drugs for Neural Tube Defects (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 149)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
Oxybutynin Approved, Investigational Phase 4,Phase 3 5633-20-5 4634
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
4 abobotulinumtoxinA Phase 4,Phase 3
5 Botulinum Toxins Phase 4,Phase 3
6 Botulinum Toxins, Type A Phase 4,Phase 3
7 Cholinergic Agents Phase 4,Phase 3
8 Neuromuscular Agents Phase 4,Phase 3
9 Neurotransmitter Agents Phase 4,Phase 3
10 onabotulinumtoxinA Phase 4,Phase 3
11 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
12 Anti-Infective Agents Phase 4,Phase 3,Phase 2
13 Autonomic Agents Phase 4,Phase 3
14 Cholinergic Antagonists Phase 4,Phase 3
15 Mandelic Acids Phase 4,Phase 3
16 Muscarinic Antagonists Phase 4,Phase 3
17 Parasympatholytics Phase 4,Phase 3
18 Renal Agents Phase 4,Phase 3
19 Anti-Infective Agents, Local Phase 4
20 Chlorhexidine gluconate Phase 4
21 Dermatologic Agents Phase 4,Phase 3,Phase 2
22 Disinfectants Phase 4
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
Drospirenone Approved Phase 3 67392-87-4 68873
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
Hydroxocobalamin Approved Phase 3 13422-51-0 5460373 44475014 11953898
Copper Approved, Investigational Phase 3 7440-50-8 27099
Iodine Approved, Investigational Phase 3 7553-56-2 807
Iron Approved Phase 3 7439-89-6 23925
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
Zinc Approved, Investigational Phase 3 7440-66-6 32051 23994
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Not Applicable 59-30-3 6037
leucovorin Approved, Nutraceutical Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3 13422-55-4
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
38 Orange Approved, Nutraceutical Phase 3
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8 1130
43 Tocopherol Approved, Investigational, Nutraceutical Phase 3
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 68-26-8, 11103-57-4 445354
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
48 Hematinics Phase 3,Phase 1,Not Applicable
49 Micronutrients Phase 3,Phase 1,Not Applicable
50 Trace Elements Phase 3,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 119)

# Name Status NCT ID Phase Drugs
1 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions Completed NCT01208584 Phase 4
3 Safety and Efficacy Study of Transdermal Oxybutynin to Treat Overactive Bladder With a Neurological Condition Completed NCT00224016 Phase 4 Oxybutynin;Oxybutynin
4 Post-Operative Colonization Rates of Femoral Nerve Catheters Treated With Chlorhexidine-Impregnated Patch Completed NCT01411891 Phase 4
5 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
6 Efficacy and Safety Study for an Oral Contraceptive Containing Folate Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
7 Study of Treatment With the Combination of Drospirenone Plus Ethinyl Estradiol Plus Levomefolate Calcium in Mexican Women Seeking Contraception Completed NCT01902264 Phase 3 EE20/DRSP/L-5-MTHF (Beyaz, BAY98-7071)
8 Children Toxine Botulinum Detrusor Injection in Neurogenic Vesical Hyperactivity Syndrom: Non Inferiority Multicenter Controlled Therapeutic Study Between Two Reported Weight's Doses Completed NCT02816151 Phase 3 full dose at 16 UI/kg for Dysport or 6,5 UA/kg for Botox;half dose at 8 UI/kg for Dysport or 3,25 UA/kg for Botox
9 Duragen Versus Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
10 Botox Versus Oxybutynin as First Line Treatment for the Poorly Compliant Pediatric Neurogenic Bladder Completed NCT01716624 Phase 3 Oxybutynin;Botulinum Toxin A injection
11 A Clinical Study to Investigate How Solifenacin Fluid is Taken up, How Long it Stays in the Body and How Effective and Safe it is in Treating Children Aged From 6 Months to Less Than 5 Years With Symptoms of Neurogenic Detrusor Overactivity (NDO) Completed NCT01981954 Phase 3 Solifenacin succinate
12 A Study to Assess the Long Term Effect, Safety and Metabolism of a Solifenacin Liquid Suspension in Patients 5 to 18 Years of Age With Neurogenic Detrusor Overactivity Completed NCT01565694 Phase 3 Solifenacin succinate
13 Impact of Pre-pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
14 Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants Active, not recruiting NCT01936272 Phase 3
15 A Study to Evaluate Folate Levels in Women Taking Oral Contraceptives Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
16 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide
17 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
18 Coping Skills Training (CST) for Children With Chronic Health Conditions Completed NCT00359775 Phase 2
19 Post T-plant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy in Myelodysplastic Syndromes/Myeloproliferative Disorders Active, not recruiting NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
20 Impact of Probiotics on Urinary Symptoms in Spinal Cord Injury SCI and SB Active, not recruiting NCT02748356 Phase 2 Lactobacillus
21 Impact of Probiotics on Urinary Symptoms in Spinal Cord Injury SCI and SB Active, not recruiting NCT02748317 Phase 2 Lactobacillus rhamnosus GG
22 Augmentation Cystoplasty Using an Autologous Neo-Bladder Terminated NCT00419120 Phase 2
23 Probiotics in Girls With Spina Bifida Withdrawn NCT00767988 Phase 2
24 Efficacy of Acetaminophen in Posterior Fossa Surgery Withdrawn NCT02532322 Phase 2 IV acetaminophen;normal saline
25 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
26 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
27 Prevention of Neural Tube Defects by Inositol in Conjunction With Folic Acid (PONTI Study) Completed NCT00452829 Phase 1 Folic Acid and inositol;Folic acid and placebo
28 Fetoscopic Meningomyelocele Repair Study Recruiting NCT02230072 Phase 1
29 Genetics of Neural Tube Defects Unknown status NCT01253746
30 Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid Unknown status NCT00966927
31 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
32 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
33 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835
34 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
35 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
36 Influence of "Espresso" on Adsorption of Myo-inositol Completed NCT01244399
37 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
38 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
39 Outcome of Fetal Spina Bifida Completed NCT01100697
40 Folate Metabolism in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
41 Management of Myelomeningocele Study (MOMS) Completed NCT00060606
42 Follow-up Study of Late Effects of Periconceptional Folic Acid in Mothers and Offspring in the Community Intervention Program Population: The Chinese Children and Families Study Completed NCT01365975
43 Effects of Maternal Folate and Folic Acid Supplementation on DNA Methylation in the Newborn Infant Completed NCT02244684
44 Nutrition Intervention for the Promotion of Healthy Weight Gain During Pregnancy Completed NCT01056406
45 Influence of Genetics on Vitamin Metabolism in Pregnant Women Completed NCT00340366
46 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Completed NCT02266641
47 Birth Defects Associated With Exposure to Lamotrigine in Pregnancy (EUROCAT) Completed NCT01055327 Lamotrigine monotherapy;No anti-epileptic drug exposure;Non lamotrigine anti-epileptic drug monotherapy
48 3D-printed Module-assisted Minimally Invasive Lumbar Pedicle Screw Placement Completed NCT02970578
49 Metformin in Children With Motor Deficit Completed NCT00720161 Metformin;placebo
50 Parental Perspectives of Using Toy Cars on Social Interactions of Preschool Children With Mobility Impairments Completed NCT02682043

Search NIH Clinical Center for Neural Tube Defects

Cochrane evidence based reviews: neural tube defects

Genetic Tests for Neural Tube Defects

Genetic tests related to Neural Tube Defects:

# Genetic test Affiliating Genes
1 Neural Tube Defect 28 CCL2 FUZ TBXT VANGL1 VANGL2
2 Spina Bifida 28

Anatomical Context for Neural Tube Defects

MalaCards organs/tissues related to Neural Tube Defects:

Brain, Spinal Cord, Bone, Skin, Testes, Heart, Colon
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Neural Tube Defects:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Neural Tube Affected by disease

Publications for Neural Tube Defects

Articles related to Neural Tube Defects:

(show top 50) (show all 1989)
# Title Authors Year
Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29445915 )
Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects. ( 29365368 )
Oxidative Stress and Apoptosis in Benzo[a]pyrene-Induced Neural Tube Defects. ( 29309894 )
Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis. ( 29363759 )
Public health failure in the prevention of neural tube defects: time to abandon the tolerable upper intake level of folate. ( 29450103 )
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. ( 29358613 )
Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects. ( 29352212 )
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
Low carbohydrate diets may increase risk of neural tube defects. ( 29368448 )
A public health approach for preventing neural tube defects: folic acid fortification and beyond. ( 29450891 )
Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. ( 29222906 )
Folic Acid Exposure Rescues Spina Bifida Aperta Phenotypes in Human Induced Pluripotent Stem Cell Model. ( 29440666 )
Comments on "ambient and dosed exposure to quaternary ammonium disinfectants causes neural tube defects in rodents". ( 29388359 )
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29392422 )
Should vitamin B<sub>12</sub>status be considered in assessing risk of neural tube defects? ( 29377209 )
Letter to the Editor. Family history of neural tube defects. ( 29303457 )
Partial amniotic carbon dioxide insufflation (PACI) during minimally invasive fetoscopic interventions on fetuses with spina bifida aperta. ( 29340812 )
Genetic contribution of retinoid-related genes to neural tube defects. ( 29297599 )
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. ( 29205322 )
Tethered cord syndrome with spina bifida aperta in cats: two case reports of different types. ( 28546867 )
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. ( 28944587 )
A pilot study on the association between rare earth elements in maternal hair and the risk of neural tube defects in north China. ( 28411498 )
Impact on spina bifida screening of shifting prenatal Down syndrome maternal serum screening from the second trimester to the first. ( 28453864 )
Protein kinase C-alpha suppresses autophagy and induces neural tube defects via miR-129-2 in diabetic pregnancy. ( 28474670 )
Exome analysis in an Estonian multiplex family with neural tube defects-a case report. ( 28721594 )
Prevention of neural tube defects and maternal gestational diabetes through the inositol supplementation: preliminary results. ( 28770950 )
Are concentrations of alkaline earth elements in maternal hair associated with risk of neural tube defects? ( 28763666 )
Extracorporeal membrane oxygenation in spina bifida and (H1N1)-induced acute respiratory distress syndrome. ( 28905112 )
Papers from the Ninth International Conference on Neural Tube Defects. ( 28398651 )
Mediterranean diet, folic acid, and neural tube defects. ( 28818086 )
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. ( 28805617 )
Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis. ( 28059605 )
Highlighting recognition, management, and treatment of neural tube defects at various stages of development. ( 28265328 )
Total prevention of folic acid-preventable spina bifida and anencephaly would reduce child mortality in India: Implications in achieving Target 3.2 of the Sustainable Development Goals. ( 29195033 )
Anesthetic Management for Percutaneous Minimally Invasive Fetoscopic Surgery of Spina Bifida Aperta: A Retrospective, Descriptive Report of Clinical Experience. ( 28244950 )
Altered GNAS imprinting due to folic acid deficiency contributes to poor embryo development and may lead to neural tube defects. ( 29340017 )
Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. ( 28770393 )
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation. ( 28862178 )
Relationship of Methylation within Upper Stream Region of Transcription Starts Site of HOXA5 Gene with Neural Tube Defects. ( 29338823 )
Air pollution, neighborhood acculturation factors, and neural tube defects among Hispanic women in California. ( 28398703 )
Apoptosis, Expression of PAX3 and P53, and Caspase Signal in Fetuses with Neural Tube Defects. ( 28786179 )
Risk factors associated with neural tube defects in infants referred to western Iranian obstetrical centers; 2013-2014. ( 28848641 )
Folic acid usage and associated factors in the prevention of neural tube defects among pregnant women in Ethiopia: cross-sectional study. ( 28934941 )
Spinal Arteriovenous Vascular Malformations in Patients with Neural Tube Defects. ( 29284599 )
The clinical features of paediatric neural tube defects changed in a tertiary care centre between 1997 and 2015. ( 28135771 )
Fecal incontinence in patients with spina bifida: The target is the rectum. ( 28950040 )
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. ( 28742214 )
Use of high frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice. ( 28056489 )
High Ratios of C20:4n-6/C20:5n-3 and Thromboxane B2 /6-Keto-Prostaglandin F1I+ in Placenta Are Potential Risk Contributors for Neural Tube Defects: A Case-Control Study in Shanxi Province, China. ( 28398620 )
Does the Prevalence of Spondylolysis and Spina Bifida Occulta Observed in Pediatric Patients Remain Stable in Adults? ( 28937467 )

Variations for Neural Tube Defects

UniProtKB/Swiss-Prot genetic disease variations for Neural Tube Defects:

71 (show all 14)
# Symbol AA change Variation ID SNP ID
1 CELSR1 p.Ala773Val VAR_067213 rs12170597
2 CELSR1 p.Arg2438Gln VAR_067215 rs199688538
3 CELSR1 p.Ser2964Leu VAR_067217 rs6008777
4 CELSR1 p.Pro2983Ala VAR_067218 rs61741871
5 DACT1 p.Asn356Lys VAR_068429
6 PARD3 p.Asp783Gly VAR_079847
7 PARD3 p.Pro913Gln VAR_079848
8 SCRIB p.Pro454Ser VAR_067219
9 SCRIB p.Arg1535Gln VAR_067220
10 VANGL1 p.Arg274Gln VAR_035210 rs121918219
11 VANGL1 p.Met328Thr VAR_035211 rs121918220
12 VANGL2 p.Ser84Phe VAR_067221
13 VANGL2 p.Arg353Cys VAR_067222 rs267607167
14 VANGL2 p.Phe437Ser VAR_067223 rs267607168

ClinVar genetic disease variations for Neural Tube Defects:

# Gene Variation Type Significance SNP ID Assembly Location
1 CCL2 NG_012123.1: g.2493A> G single nucleotide variant Pathogenic,risk factor rs1024611 GRCh37 Chromosome 17, 32579788: 32579788
2 PARD3 NM_019619.3(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 GRCh37 Chromosome 10, 34400423: 34400423
3 PARD3 NM_019619.3(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 GRCh38 Chromosome 10, 34331221: 34331221
4 PARD3 NM_019619.3(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 GRCh37 Chromosome 10, 34625160: 34625160
5 PARD3 NM_019619.3(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh37 Chromosome 10, 34630624: 34630624
6 PARD3 NM_019619.3(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant risk factor rs199923448 GRCh37 Chromosome 10, 34671821: 34671821
7 PARD3 NM_019619.3(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 GRCh37 Chromosome 10, 34739379: 34739379
8 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh37 Chromosome 10, 34835589: 34975192

Expression for Neural Tube Defects

LifeMap Discovery
Genes differentially expressed in tissues of Neural Tube Defects patients vs. healthy controls: 35 (show top 50) (show all 154)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 DDX3Y DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked Amnion - 8.64 0.000
2 RPS4Y1 ribosomal protein S4, Y-linked 1 Amnion - 7.41 0.000
3 EIF1AY eukaryotic translation initiation factor 1A, Y-linked Amnion - 7.25 0.000
4 GRIA2 glutamate receptor, ionotropic, AMPA 2 Amnion + 5.60 0.000
5 CNTN1 contactin 1 Amnion + 4.72 0.005
6 THBS1 thrombospondin 1 Amnion - 4.68 0.000
7 FABP7 fatty acid binding protein 7, brain Amnion + 4.60 0.003
8 PMP2 peripheral myelin protein 2 Amnion + 4.49 0.024
9 CADM2 cell adhesion molecule 2 Amnion + 4.33 0.010
10 GPM6A glycoprotein M6A Amnion + 4.28 0.006
11 SCG3 secretogranin III Amnion + 4.20 0.002
12 NLGN4X neuroligin 4, X-linked Amnion + 4.19 0.012
13 PPP1R3F protein phosphatase 1, regulatory subunit 3F Amnion + 4.18 0.000
14 SLC1A6 solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 Amnion - 4.17 0.010
15 POU2F2 POU class 2 homeobox 2 Amnion + 4.17 0.000
16 OVOL1 ovo-like zinc finger 1 Amnion - 4.15 0.000
17 NRTN neurturin Amnion - 4.13 0.016
18 KRT24 keratin 24, type I Amnion - 4.12 0.000
19 GPM6B glycoprotein M6B Amnion + 4.01 0.039
20 LHFPL3 lipoma HMGIC fusion partner-like 3 Amnion + 4.01 0.012
21 TXLNGY taxilin gamma pseudogene, Y-linked Amnion - 3.96 0.003
22 NKX2-2 NK2 homeobox 2 Amnion + 3.95 0.009
23 NKX2-3 NK2 homeobox 3 Amnion - 3.92 0.000
24 WSCD1 WSC domain containing 1 Amnion + 3.90 0.003
25 ADGRL3 adhesion G protein-coupled receptor L3 Amnion + 3.83 0.014
26 MXD1 MAX dimerization protein 1 Amnion - 3.83 0.015
27 AASS aminoadipate-semialdehyde synthase Amnion + 3.79 0.001
28 IZUMO1 izumo sperm-egg fusion 1 Amnion + 3.79 0.001
29 SH3GL2 SH3-domain GRB2-like 2 Amnion + 3.79 0.014
30 AP1S3 adaptor-related protein complex 1, sigma 3 subunit Amnion - 3.78 0.000
31 ETNPPL ethanolamine-phosphate phospho-lyase Amnion - 3.73 0.005
32 ORF1 uncharacterized protein, clone pT-Adv JuaX22 Amnion + 3.71 0.007
33 ZNF428 zinc finger protein 428 Amnion + 3.70 0.002
34 KANK4 KN motif and ankyrin repeat domains 4 Amnion - 3.69 0.002
35 KCNC2 potassium channel, voltage gated Shaw related subfamily C, member 2 Amnion - 3.67 0.031
36 ZIC2 Zic family member 2 Amnion + 3.67 0.043
37 ZFY zinc finger protein, Y-linked Amnion - 3.67 0.005
38 SLC7A2 solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 Amnion - 3.66 0.023
39 CD36 CD36 molecule (thrombospondin receptor) Amnion + 3.65 0.014
40 ADSSL1 adenylosuccinate synthase like 1 Amnion + 3.65 0.025
41 CECR9 cat eye syndrome chromosome region, candidate 9 (non-protein coding) Amnion + 3.64 0.004
42 NXPH1 neurexophilin 1 Amnion + 3.64 0.041
43 MFAP5 microfibrillar associated protein 5 Amnion - 3.61 0.004
44 AUTS2 autism susceptibility candidate 2 Amnion + 3.59 0.012
45 KCTD7 potassium channel tetramerization domain containing 7 Amnion - 3.59 0.000
46 ASCL1 achaete-scute family bHLH transcription factor 1 Amnion + 3.59 0.014
47 MUC15 mucin 15, cell surface associated Amnion - 3.53 0.043
48 MUSTN1 musculoskeletal, embryonic nuclear protein 1 Amnion + 3.52 0.007
49 MYT1 myelin transcription factor 1 Amnion + 3.52 0.002
50 DNAJC24 DnaJ (Hsp40) homolog, subfamily C, member 24 Amnion + 3.51 0.013
Search GEO for disease gene expression data for Neural Tube Defects.

Pathways for Neural Tube Defects

Pathways related to Neural Tube Defects according to KEGG:

# Name Kegg Source Accession
1 One carbon pool by folate hsa00670

Pathways related to Neural Tube Defects according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
Show member pathways
Show member pathways
Show member pathways
Show member pathways
6 10.78 MTR MTRR
Show member pathways
Show member pathways

GO Terms for Neural Tube Defects

Biological processes related to Neural Tube Defects according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 CELSR1 DACT1 FUZ PAX3 SCRIB TBXT
2 anterior/posterior pattern specification GO:0009952 9.79 CELSR1 TBXT VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.79 CELSR1 VANGL1 VANGL2
4 wound healing GO:0042060 9.77 CELSR1 SCRIB VANGL2
5 hair follicle development GO:0001942 9.69 CELSR1 FUZ VANGL2
6 regulation of smoothened signaling pathway GO:0008589 9.64 FUZ ZIC1
7 cobalamin metabolic process GO:0009235 9.63 MTR MTRR
8 post-anal tail morphogenesis GO:0036342 9.63 TBXT VANGL2
9 cellular amino acid biosynthetic process GO:0008652 9.62 CBS MTHFD1 MTR MTRR
10 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.61 SCRIB VANGL2
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.59 CELSR1 VANGL2
12 tetrahydrofolate interconversion GO:0035999 9.58 MTHFD1 MTHFR
13 apical protein localization GO:0045176 9.58 CELSR1 VANGL2
14 establishment of planar polarity GO:0001736 9.58 CELSR1 FUZ VANGL2
15 sulfur amino acid metabolic process GO:0000096 9.57 MTR MTRR
16 homocysteine metabolic process GO:0050667 9.56 CBS MTHFR
17 astrocyte cell migration GO:0043615 9.55 CCL2 SCRIB
18 transsulfuration GO:0019346 9.54 CBS MTHFD1
19 methionine biosynthetic process GO:0009086 9.54 MTHFD1 MTR MTRR
20 establishment of body hair planar orientation GO:0048105 9.52 CELSR1 VANGL2
21 homocysteine catabolic process GO:0043418 9.49 CBS MTRR
22 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.48 CELSR1 VANGL2
23 lateral sprouting involved in lung morphogenesis GO:0060490 9.46 CELSR1 VANGL2
24 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.43 CELSR1 VANGL2
25 methionine metabolic process GO:0006555 9.43 MTHFD1 MTHFR MTRR
26 folic acid metabolic process GO:0046655 9.26 MTHFD1 MTHFR MTRR SLC19A1
27 neural tube closure GO:0001843 9.1 CELSR1 FUZ MTHFD1 SCRIB TBXT VANGL2
28 nervous system development GO:0007399 10.02 DACT1 MTR PAX3 ZIC1 ZIC2

Molecular functions related to Neural Tube Defects according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Neural Tube Defects

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
51 Novoseek
54 OMIM via Orphanet
58 PubMed
66 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
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