MCID: NRL016
MIFTS: 78

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 57 38 53 75 13 55 43 44
Spina Bifida 57 38 12 76 53 25 54 75 37 29 55 43 3 15
Neural Tube Defect 12 29 6 15
Ntd 57 75 3
Neural Tube Defects, Susceptibility to 57 6
Spina Bifida, Susceptibility to 57 6
Spinal Dysraphism 53 25
Rachischisis 53 25
Cleft Spine 53 25
Open Spine 53 25
Dysraphism 53
Ntds 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant form


HPO:

32
neural tube defects:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neural Tube Defects

NINDS : 54 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 craniorachischisis. 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, spinal cord and brain, and related phenotypes are urinary incontinence and hydrocephalus

OMIM : 57 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)

UniProtKB/Swiss-Prot : 75 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.

NIH Rare Diseases : 53 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.

MedlinePlus : 43 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.

Genetics Home Reference : 25 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.

Wikipedia : 76 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 124)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 36.0 MTHFD1 MTHFR MTR MTRR
2 craniorachischisis 33.6 CELSR1 DACT1 SCRIB VANGL2
3 anencephaly 33.5 AFP CELSR1 DACT1 MTHFD1 MTHFR MTR
4 down syndrome 31.7 AFP CBS MTHFR MTRR
5 omphalocele 31.7 AFP MTHFD1 SLC19A1
6 spina bifida occulta 31.4 MTHFR ZIC1
7 homocystinuria 31.3 CBS MTHFR MTR MTRR
8 myelomeningocele 31.1 CBS CELSR1 DACT1 MTHFD1 MTHFR PAX3
9 vascular disease 30.5 CBS CCL2 MTHFR MTR MTRR
10 neural tube defects, x-linked 12.4
11 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.2
12 tethered spinal cord syndrome 12.1
13 diphallus rachischisis imperforate anus 11.9
14 encephalocele 11.5
15 iniencephaly 11.4
16 mthfr gene variant 11.4
17 chiari malformation 11.3
18 methylmalonic aciduria and homocystinuria type cble 11.2 MTR MTRR
19 methylmalonic aciduria and homocystinuria type cblg 11.2 MTR MTRR
20 methotrexate toxicity or dose selection 11.2 MTHFR SLC19A1
21 transcobalamin ii deficiency 11.2 MTHFR MTR MTRR
22 methylmalonic aciduria and homocystinuria, cblc type 11.2 CBS MTHFD1 MTR
23 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 11.2 MTHFR MTR
24 megaloblastic anemia 11.2 MTHFD1 MTHFR MTR MTRR
25 nondisjunction 11.2 MTHFR MTRR
26 placental choriocarcinoma 11.2 MTHFD1 MTR SLC19A1
27 amino acid metabolic disorder 11.1 CBS MTHFR MTR
28 acute lymphoblastic leukemia, childhood 11.1 MTHFD1 MTHFR SLC19A1
29 upper thoracic spina bifida cystica 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
30 cervicothoracic spina bifida cystica 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
31 cervical spina bifida cystica 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
32 lumbosacral spina bifida cystica 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
33 thoracolumbosacral spina bifida cystica 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
34 disorders of intracellular cobalamin metabolism 11.1 MTR MTRR
35 total spina bifida cystica 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
36 upper thoracic spina bifida aperta 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
37 thoracolumbosacral spina bifida aperta 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
38 lumbosacral spina bifida aperta 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
39 cervical spina bifida aperta 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
40 cervicothoracic spina bifida aperta 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
41 holoprosencephaly 5 11.1 ZIC1 ZIC2
42 total spina bifida aperta 11.1 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
43 cerebrovascular disease 11.0 CBS MTHFR MTR
44 fryns microphthalmia syndrome 11.0
45 limb-body wall complex 11.0
46 meningoencephalocele 11.0
47 schisis association 11.0
48 glycine n-methyltransferase deficiency 11.0 CBS MTHFR
49 testicular infarct 10.9 AFP MTHFR
50 holoprosencephaly 4 10.9 ZIC1 ZIC2

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:

57
Spine:
hydrocephalus
spina bifida
spina bifida occulta
anencephaly
spinal dysraphism
more
Neuro:
urinary incontinence
neurologic signs in legs


Clinical features from OMIM:

182940

Human phenotypes related to Neural Tube Defects:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 urinary incontinence 32 HP:0000020
2 hydrocephalus 32 HP:0000238
3 multiple lipomas 32 HP:0001012
4 anencephaly 32 HP:0002323
5 myelomeningocele 32 HP:0002475
6 spina bifida occulta 32 HP:0003298
7 asymmetry of spinal facet joints 32 HP:0008482

GenomeRNAi Phenotypes related to Neural Tube Defects according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 AFP CBS CCL2 CELSR1 H19 MTHFD1

MGI Mouse Phenotypes related to Neural Tube Defects:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 MTHFD1 MTHFR MTRR PARD3 PAX3 SCRIB
2 mortality/aging MP:0010768 10.27 AFP CELSR1 DACT1 FUZ MTHFD1 MTHFR
3 embryo MP:0005380 10.26 MTHFD1 PARD3 PAX3 SCRIB SLC19A1 TBXT
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 10.13 DACT1 FUZ MTHFD1 MTHFR PARD3 PAX3
7 digestive/alimentary MP:0005381 10.1 TBXT VANGL2 ZIC2 DACT1 FUZ PAX3
8 craniofacial MP:0005382 10.05 ZIC2 CELSR1 FUZ PAX3 SCRIB TBXT
9 hearing/vestibular/ear MP:0005377 9.91 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
10 reproductive system MP:0005389 9.81 AFP CELSR1 DACT1 MTHFR SCRIB SLC19A1
11 no phenotypic analysis MP:0003012 9.8 DACT1 MTHFR PARD3 PAX3 SCRIB TBXT
12 skeleton MP:0005390 9.65 CELSR1 DACT1 FUZ MTHFR PAX3 TBXT
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 150)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
2
Oxybutynin Approved, Investigational Phase 4,Phase 3 5633-20-5 4634
3
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
4
Glycerol Approved, Investigational Phase 4 56-81-5 753
5 abobotulinumtoxinA Phase 4,Phase 3
6 Botulinum Toxins Phase 4,Phase 3
7 Botulinum Toxins, Type A Phase 4,Phase 3
8 Cholinergic Agents Phase 4,Phase 3
9 Neuromuscular Agents Phase 4,Phase 3
10 Neurotransmitter Agents Phase 4,Phase 3
11 onabotulinumtoxinA Phase 4,Phase 3
12 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
13 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Autonomic Agents Phase 4,Phase 3
15 Cholinergic Antagonists Phase 4,Phase 3
16 Mandelic Acids Phase 4,Phase 3
17 Muscarinic Antagonists Phase 4,Phase 3
18 Parasympatholytics Phase 4,Phase 3
19 Renal Agents Phase 4,Phase 3
20 Anti-Infective Agents, Local Phase 4,Not Applicable
21 Chlorhexidine gluconate Phase 4
22 Dermatologic Agents Phase 4,Phase 3,Phase 2,Not Applicable
23 Disinfectants Phase 4
24 Pharmaceutical Solutions Phase 4,Not Applicable
25 Protective Agents Phase 4,Phase 3
26 Cola Nutraceutical Phase 4,Not Applicable
27
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
28 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
29
Polyestradiol phosphate Approved Phase 3 28014-46-2
30
Drospirenone Approved Phase 3 67392-87-4 68873
31
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
32
Hydroxocobalamin Approved Phase 3,Not Applicable 13422-51-0 11953898 44475014
33
Copper Approved, Investigational Phase 3 7440-50-8 27099
34
Iodine Approved, Investigational Phase 3 7553-56-2 807
35
Iron Approved Phase 3 7439-89-6 23925
36
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
37
Zinc Approved, Investigational Phase 3 7440-66-6 23994
38
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Not Applicable 59-30-3 6037
39
leucovorin Approved, Nutraceutical Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
40
Cyanocobalamin Approved, Nutraceutical Phase 3,Not Applicable 68-19-9 44176380
41
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3,Not Applicable 13422-55-4
42
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
43
Nicotinamide Approved, Investigational, Nutraceutical Phase 3 98-92-0 936
44 Orange Approved, Nutraceutical Phase 3
45
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
46
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
47
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
48
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8, 70-16-6 1130
49
Tocopherol Approved, Investigational, Nutraceutical Phase 3 1406-66-2 14986
50
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 11103-57-4, 68-26-8 445354

Interventional clinical trials:

(show top 50) (show all 127)
# 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 Safety and Efficacy Study of Transdermal Oxybutynin to Treat Overactive Bladder With a Neurological Condition Completed NCT00224016 Phase 4 Oxybutynin;Oxybutynin
3 Post-Operative Colonization Rates of Femoral Nerve Catheters Treated With Chlorhexidine-Impregnated Patch Completed NCT01411891 Phase 4
4 A Within Subjects Comparison of Two Antegrade Flushing Regimens in Children Recruiting NCT02435069 Phase 4 NS and USP Glycerin - Dose Response;NS and USP Glycerin - Effectiveness
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 Impact of Pre-pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
12 Randomized Controlled Trial of Shunt vs ETV/CPC for PIH in Ugandan Infants Active, not recruiting NCT01936272 Phase 3
13 A Study to Evaluate Folate Levels in Women Taking Oral Contraceptives Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
14 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide
15 Post T-plant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy in Myelodysplastic Syndromes/Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
16 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
17 Coping Skills Training (CST) for Children With Chronic Health Conditions Completed NCT00359775 Phase 2
18 Impact of Probiotics on Urinary Symptoms in Spinal Cord Injury SCI and SB Active, not recruiting NCT02748356 Phase 2 Lactobacillus
19 Impact of Probiotics on Urinary Symptoms in Spinal Cord Injury SCI and SB Active, not recruiting NCT02748317 Phase 2 Lactobacillus rhamnosus GG
20 Augmentation Cystoplasty Using an Autologous Neo-Bladder Terminated NCT00419120 Phase 2
21 Probiotics in Girls With Spina Bifida Withdrawn NCT00767988 Phase 2
22 Efficacy of Acetaminophen in Posterior Fossa Surgery Withdrawn NCT02532322 Phase 2 IV acetaminophen;normal saline
23 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
24 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
25 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
26 Fetoscopic Meningomyelocele Repair Study Recruiting NCT02230072 Phase 1
27 Pain Biomarker Study Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
28 Genetics of Neural Tube Defects Unknown status NCT01253746
29 Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid Unknown status NCT00966927
30 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
31 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
32 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
33 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835 Not Applicable
34 Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing Unknown status NCT02854150
35 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
36 Urinary Markers of Detrusor Overactivity in Spina Bifida Patients Unknown status NCT02852317
37 Self-esteem and Neuro-urological Follow-up in Patients With Spina Bifida or Spinal Cord Injury Unknown status NCT01606618
38 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407 Not Applicable
39 Influence of "Espresso" on Adsorption of Myo-inositol Completed NCT01244399
40 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 Not Applicable multivitamin
41 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 Not Applicable folic acid
42 Outcome of Fetal Spina Bifida Completed NCT01100697
43 Folate Metabolism in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
44 Management of Myelomeningocele Study (MOMS) Completed NCT00060606 Not Applicable
45 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
46 Can Dynamic Ultrasonography Replace Urodynamics in Follow-up of Patients With Myelomeningocele Completed NCT03550898 Not Applicable
47 Effects of Maternal Folate and Folic Acid Supplementation on DNA Methylation in the Newborn Infant Completed NCT02244684
48 Nutrition Intervention for the Promotion of Healthy Weight Gain During Pregnancy Completed NCT01056406 Not Applicable
49 Influence of Genetics on Vitamin Metabolism in Pregnant Women Completed NCT00340366
50 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Completed NCT02266641 Not Applicable

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 29 CCL2 FUZ TBXT VANGL1 VANGL2
2 Spina Bifida 29

Anatomical Context for Neural Tube Defects

MalaCards organs/tissues related to Neural Tube Defects:

41
Spinal Cord, Brain, 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 2070)
# Title Authors Year
1
Regulation of the expression of tumor necrosis factora89related genes by abnormal histone H3K27 acetylation: Implications for neural tube defects. ( 29693124 )
2018
2
Magnitude of Neural Tube Defects and Associated Risk Factors at Three Teaching Hospitals in Addis Ababa, Ethiopia. ( 29713643 )
2018
3
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. ( 29358613 )
2018
4
A public health approach for preventing neural tube defects: folic acid fortification and beyond. ( 29450891 )
2018
5
Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects. ( 29365368 )
2018
6
Letter to the Editor. Family history of neural tube defects. ( 29303457 )
2018
7
Loss of Tctn3 causes neuronal apoptosis and neural tube defects in mice. ( 29725084 )
2018
8
Partial amniotic carbon dioxide insufflation (PACI) during minimally invasive fetoscopic interventions on fetuses with spina bifida aperta. ( 29340812 )
2018
9
Oxidative Stress and Apoptosis in Benzo[a]pyrene-Induced Neural Tube Defects. ( 29309894 )
2018
10
Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29445915 )
2018
11
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29392422 )
2018
12
Preconception folic acid supplementation use and the occurrence of neural tube defects in Japan: A nationwide birth cohort study of the Japan Environment and Children's Study. ( 29900595 )
2018
13
LRP2 gene variants and their haplotypes strongly influence the risk of developing neural tube defects in the fetus: a family-triad study from South India. ( 29728895 )
2018
14
Neurological outcomes by mode of delivery for fetuses with open neural tube defects: A systematic review and meta-analysis. ( 29924919 )
2018
15
Comments on "ambient and dosed exposure to quaternary ammonium disinfectants causes neural tube defects in rodents". ( 29388359 )
2018
16
Genetic contribution of retinoid-related genes to neural tube defects. ( 29297599 )
2018
17
Low carbohydrate diets may increase risk of neural tube defects. ( 29368448 )
2018
18
Intellectual efficiency in children and adolescents with spina bifida myelomeningocele and shunted hydrocephalus. ( 29451990 )
2018
19
Neural Tube Defects in Embryonic Life: Lessons Learned From 340 Early Pregnancy Failures. ( 29665042 )
2018
20
Network correlation analysis revealed potential new mechanisms for neural tube defects beyond folic acid. ( 29732722 )
2018
21
Novel mutation in SP2 in a Chinese pedigree with Neural tube defects. ( 29855149 )
2018
22
Mitochondrial dysfunction is implicated in retinoic acid-induced spina bifida aperta in rat fetuses. ( 29689339 )
2018
23
Chornobyl, radiation, neural tube defects, and microcephaly. ( 29908351 )
2018
24
Maternal dietary nitrate intake and risk of neural tube defects: A systematic review and dose-response meta-analysis. ( 29763679 )
2018
25
Should vitamin B<sub>12</sub>status be considered in assessing risk of neural tube defects? ( 29377209 )
2018
26
Isolated Post-Shunt Metopic Synostosis and Neural Tube Defects. ( 29561489 )
2018
27
NMDA Receptor Signaling Is Important for Neural Tube Formation and for Preventing Antiepileptic Drug-Induced Neural Tube Defects. ( 29712790 )
2018
28
Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis. ( 29363759 )
2018
29
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 )
2018
30
Lessons learned from the management of adults who have undergone augmentation for spina bifida and bladder exstrophy: Incidence and management of the non-lethal complications of bladder augmentation. ( 28771821 )
2018
31
Formate rescues neural tube defects caused by mutations in <i>Slc25a32</i>. ( 29666258 )
2018
32
Countries with an immediate potential for primary prevention of spina bifida and anencephaly: Mandatory fortification of wheat flour with folic acid. ( 29532629 )
2018
33
Public health failure in the prevention of neural tube defects: time to abandon the tolerable upper intake level of folate. ( 29450103 )
2018
34
Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects. ( 29352212 )
2018
35
The Impact of Bowel Management in Alleviating Symptoms of Urinary Incontinence in Spina Bifida Patients with Overactive Bladder and Detrusor Sphincter Dyssynergia. ( 29802783 )
2018
36
Fetoscopic Two-Layers Closure of Open Neural Tube Defects. ( 29876992 )
2018
37
Folic acid and primary prevention of neural tube defects: A review. ( 29777755 )
2018
38
Fortifying food with folic acid to prevent neural tube defects: are we now where we ought to be? ( 29868919 )
2018
39
Modulation of nuclear factor-I_B signaling and reduction of neural tube defects by quercetin-3-glucoside in embryos of diabetic mice. ( 29733843 )
2018
40
Folic Acid Exposure Rescues Spina Bifida Aperta Phenotypes in Human Induced Pluripotent Stem Cell Model. ( 29440666 )
2018
41
Highlighting recognition, management, and treatment of neural tube defects at various stages of development. ( 28265328 )
2017
42
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 )
2017
43
Spinal Arteriovenous Vascular Malformations in Patients with Neural Tube Defects. ( 29284599 )
2017
44
A single center study of epidemiology of neural tube defects. ( 28149108 )
2017
45
Papers from the Ninth International Conference on Neural Tube Defects. ( 28398651 )
2017
46
Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. ( 28770393 )
2017
47
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation. ( 28862178 )
2017
48
Neural Tube Defects: Risk Factors and Preventive Measures. ( 28425110 )
2017
49
Proposal for supplemental intake of folic acid to reduce the risk of neural tube defects. ( 28266124 )
2017
50
Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches. ( 28411382 )
2017

Variations for Neural Tube Defects

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

75 (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:

6
(show top 50) (show all 288)
# Gene Variation Type Significance SNP ID Assembly Location
1 VANGL1 NM_138959.2(VANGL1): c.821G> A (p.Arg274Gln) single nucleotide variant risk factor rs121918219 GRCh37 Chromosome 1, 116224993: 116224993
2 VANGL1 NM_138959.2(VANGL1): c.821G> A (p.Arg274Gln) single nucleotide variant risk factor rs121918219 GRCh38 Chromosome 1, 115682372: 115682372
3 VANGL1 NM_138959.2(VANGL1): c.983T> C (p.Met328Thr) single nucleotide variant risk factor rs121918220 GRCh37 Chromosome 1, 116226601: 116226601
4 VANGL1 NM_138959.2(VANGL1): c.983T> C (p.Met328Thr) single nucleotide variant risk factor rs121918220 GRCh38 Chromosome 1, 115683980: 115683980
5 TBXT NM_003181.3(TBXT): c.1034+79C> T single nucleotide variant risk factor rs3127334 GRCh37 Chromosome 6, 166574246: 166574246
6 TBXT NM_003181.3(TBXT): c.1034+79C> T single nucleotide variant risk factor rs3127334 GRCh38 Chromosome 6, 166160758: 166160758
7 VANGL2 NM_020335.2(VANGL2): c.1057C> T (p.Arg353Cys) single nucleotide variant risk factor rs267607167 GRCh37 Chromosome 1, 160390961: 160390961
8 VANGL2 NM_020335.2(VANGL2): c.1057C> T (p.Arg353Cys) single nucleotide variant risk factor rs267607167 GRCh38 Chromosome 1, 160421171: 160421171
9 VANGL2 NM_020335.2(VANGL2): c.1310T> C (p.Phe437Ser) single nucleotide variant risk factor rs267607168 GRCh37 Chromosome 1, 160394912: 160394912
10 VANGL2 NM_020335.2(VANGL2): c.1310T> C (p.Phe437Ser) single nucleotide variant risk factor rs267607168 GRCh38 Chromosome 1, 160425122: 160425122
11 CCL2 NG_012123.1: g.2493A> G single nucleotide variant Pathogenic,risk factor rs1024611 GRCh37 Chromosome 17, 32579788: 32579788
12 CCL2 NG_012123.1: g.2493A> G single nucleotide variant Pathogenic,risk factor rs1024611 GRCh38 Chromosome 17, 34252769: 34252769
13 FUZ NM_025129.4(FUZ): c.115C> T (p.Pro39Ser) single nucleotide variant risk factor rs387907204 GRCh37 Chromosome 19, 50315990: 50315990
14 FUZ NM_025129.4(FUZ): c.115C> T (p.Pro39Ser) single nucleotide variant risk factor rs387907204 GRCh38 Chromosome 19, 49812733: 49812733
15 FUZ NM_025129.4(FUZ): c.1060G> T (p.Asp354Tyr) single nucleotide variant risk factor rs139365610 GRCh37 Chromosome 19, 50310605: 50310605
16 FUZ NM_025129.4(FUZ): c.1060G> T (p.Asp354Tyr) single nucleotide variant risk factor rs139365610 GRCh38 Chromosome 19, 49807348: 49807348
17 FUZ NM_025129.4(FUZ): c.1211G> A (p.Arg404Gln) single nucleotide variant risk factor rs137955120 GRCh37 Chromosome 19, 50310454: 50310454
18 FUZ NM_025129.4(FUZ): c.1211G> A (p.Arg404Gln) single nucleotide variant risk factor rs137955120 GRCh38 Chromosome 19, 49807197: 49807197
19 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh37 Chromosome 1, 116206512: 116206512
20 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh38 Chromosome 1, 115663891: 115663891
21 CELSR1 NM_014246.1(CELSR1): c.5052_5053dupTG (p.Glu1685Valfs) duplication risk factor rs786201015 GRCh37 Chromosome 22, 46805658: 46805659
22 CELSR1 NM_014246.1(CELSR1): c.5052_5053dupTG (p.Glu1685Valfs) duplication risk factor rs786201015 GRCh38 Chromosome 22, 46409761: 46409762
23 CELSR1 NM_014246.1(CELSR1): c.5723_5724delTG (p.Val1908Glyfs) deletion risk factor rs786201016 GRCh38 Chromosome 22, 46396724: 46396725
24 CELSR1 NM_014246.1(CELSR1): c.5723_5724delTG (p.Val1908Glyfs) deletion risk factor rs786201016 GRCh37 Chromosome 22, 46792621: 46792622
25 VANGL1 NM_138959.2(VANGL1): c.542G> A (p.Arg181Gln) single nucleotide variant risk factor rs761123443 GRCh37 Chromosome 1, 116206619: 116206619
26 VANGL1 NM_138959.2(VANGL1): c.542G> A (p.Arg181Gln) single nucleotide variant risk factor rs761123443 GRCh38 Chromosome 1, 115663998: 115663998
27 PARD3 NM_019619.3(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 GRCh37 Chromosome 10, 34400423: 34400423
28 PARD3 NM_019619.3(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 GRCh38 Chromosome 10, 34111495: 34111495
29 PARD3 NM_019619.3(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 GRCh38 Chromosome 10, 34331221: 34331221
30 PARD3 NM_019619.3(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 GRCh37 Chromosome 10, 34620149: 34620149
31 PARD3 NM_019619.3(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 GRCh37 Chromosome 10, 34625160: 34625160
32 PARD3 NM_019619.3(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 GRCh38 Chromosome 10, 34336232: 34336232
33 PARD3 NM_019619.3(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh37 Chromosome 10, 34630624: 34630624
34 PARD3 NM_019619.3(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh38 Chromosome 10, 34341696: 34341696
35 PARD3 NM_019619.3(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant risk factor rs199923448 GRCh37 Chromosome 10, 34671821: 34671821
36 PARD3 NM_019619.3(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant risk factor rs199923448 GRCh38 Chromosome 10, 34382893: 34382893
37 PARD3 NM_019619.3(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 GRCh37 Chromosome 10, 34739379: 34739379
38 PARD3 NM_019619.3(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 GRCh38 Chromosome 10, 34450451: 34450451
39 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh37 Chromosome 10, 34835589: 34975192
40 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh38 Chromosome 10, 34546661: 34686264
41 VANGL1 NM_138959.2(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 GRCh38 Chromosome 1, 115641998: 115641998
42 VANGL1 NM_138959.2(VANGL1): c.-226G> C single nucleotide variant Likely benign rs116216703 GRCh37 Chromosome 1, 116184619: 116184619
43 VANGL1 NM_138959.2(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 GRCh38 Chromosome 1, 115664221: 115664221
44 VANGL1 NM_138959.2(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 GRCh37 Chromosome 1, 116206842: 116206842
45 VANGL1 NM_138959.2(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 GRCh38 Chromosome 1, 115664277: 115664277
46 VANGL1 NM_138959.2(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 GRCh37 Chromosome 1, 116206898: 116206898
47 VANGL1 NM_138959.2(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 GRCh38 Chromosome 1, 115691680: 115691680
48 VANGL1 NM_138959.2(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 GRCh37 Chromosome 1, 116234301: 116234301
49 VANGL1 NM_138959.2(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 GRCh38 Chromosome 1, 115691862: 115691862
50 VANGL1 NM_138959.2(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 GRCh37 Chromosome 1, 116234483: 116234483

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:

37
# 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
1
Show member pathways
12.33 MTHFD1 MTHFR MTR MTRR SLC19A1
2 11.82 AFP PAX3 SCRIB VANGL1
3
Show member pathways
11.66 CBS MTR MTRR
4
Show member pathways
11.5 CBS MTHFD1 MTHFR MTR MTRR
5
Show member pathways
11.5 CBS CCL2 MTHFD1 MTHFR MTR MTRR
6 10.76 MTR MTRR
7
Show member pathways
10.32 CBS MTHFR
8
Show member pathways
9.76 MTR MTRR

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 9.8 CELSR1 TBXT VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.79 CELSR1 VANGL1 VANGL2
4 wound healing GO:0042060 9.78 CELSR1 SCRIB VANGL2
5 hair follicle development GO:0001942 9.71 CELSR1 FUZ VANGL2
6 cellular amino acid biosynthetic process GO:0008652 9.67 CBS MTHFD1 MTR MTRR
7 regulation of smoothened signaling pathway GO:0008589 9.64 FUZ ZIC1
8 cobalamin metabolic process GO:0009235 9.63 MTR MTRR
9 post-anal tail morphogenesis GO:0036342 9.63 TBXT VANGL2
10 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.63 PARD3 SCRIB VANGL2
11 establishment of planar polarity GO:0001736 9.61 CELSR1 FUZ VANGL2
12 planar cell polarity pathway involved in neural tube closure GO:0090179 9.6 CELSR1 VANGL2
13 tetrahydrofolate interconversion GO:0035999 9.59 MTHFD1 MTHFR
14 apical protein localization GO:0045176 9.58 CELSR1 VANGL2
15 sulfur amino acid metabolic process GO:0000096 9.58 MTR MTRR
16 methionine biosynthetic process GO:0009086 9.58 MTHFD1 MTR MTRR
17 astrocyte cell migration GO:0043615 9.57 CCL2 SCRIB
18 establishment of body hair planar orientation GO:0048105 9.56 CELSR1 VANGL2
19 transsulfuration GO:0019346 9.55 CBS MTHFD1
20 homocysteine catabolic process GO:0043418 9.52 CBS MTRR
21 lateral sprouting involved in lung morphogenesis GO:0060490 9.51 CELSR1 VANGL2
22 homocysteine metabolic process GO:0050667 9.5 CBS MTHFR MTRR
23 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.49 CELSR1 VANGL2
24 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.48 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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