NTD
MCID: NRL016
MIFTS: 79

Neural Tube Defects (NTD)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neural Tube Defects

MalaCards integrated aliases for Neural Tube Defects:

Name: Neural Tube Defects 58 39 54 76 13 56 44 45
Spina Bifida 58 39 12 77 54 26 55 76 38 30 56 44 3 15 17
Neural Tube Defect 12 30 6 15
Spinal Dysraphism 54 26 45
Ntd 58 76 3
Neural Tube Defects, Susceptibility to 58 6
Spina Bifida, Susceptibility to 58 6
Rachischisis 54 26
Cleft Spine 54 26
Open Spine 54 26
Dysraphism 54
Ntds 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant form


HPO:

33
neural tube defects:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neural Tube Defects

NINDS : 55 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 cervical spina bifida cystica. 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 Oxybutynin and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, spinal cord and brain, and related phenotypes are hydrocephalus and multiple lipomas

Genetics Home Reference : 26 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 : 54 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.

OMIM : 58 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 : 44 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 Facts, types, causes, & prevention.

UniProtKB/Swiss-Prot : 76 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 : 77 Spina bifida is a birth defect in which there is incomplete closing of the spine 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 367)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 35.3 MTHFD1 MTHFR MTR MTRR
2 cervical spina bifida cystica 34.4 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
3 lumbosacral spina bifida cystica 34.4 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
4 cervical spina bifida aperta 34.3 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
5 upper thoracic spina bifida cystica 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
6 cervicothoracic spina bifida cystica 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
7 thoracolumbosacral spina bifida cystica 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
8 total spina bifida cystica 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
9 upper thoracic spina bifida aperta 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
10 thoracolumbosacral spina bifida aperta 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
11 lumbosacral spina bifida aperta 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
12 cervicothoracic spina bifida aperta 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
13 total spina bifida aperta 34.2 FUZ MTHFD1 MTHFR TBXT VANGL1 VANGL2
14 anencephaly 33.2 AFP CELSR1 DACT1 MTHFD1 MTHFR MTR
15 craniorachischisis 33.0 CELSR1 DACT1 SCRIB VANGL2
16 omphalocele 31.0 AFP MTHFD1 SLC19A1
17 myelomeningocele 30.9 CELSR1 DACT1 MTHFR PAX3 SCRIB SLC19A1
18 spina bifida occulta 30.7 MTHFR ZIC1
19 homocysteinemia 30.6 H19 MTHFR MTR MTRR SLC19A1
20 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 30.6 MTHFR MTR
21 homocystinuria 30.6 MTHFR MTR MTRR
22 vascular disease 30.5 CCL2 MTHFR MTR MTRR
23 patau syndrome 30.2 AFP ZIC2
24 spina bifida aperta 12.6
25 neural tube defects, x-linked 12.6
26 anencephaly and spina bifida x-linked 12.5
27 spina bifida hypospadias 12.5
28 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.4
29 diphallus rachischisis imperforate anus 12.1
30 kasznica carlson coppedge syndrome 11.9
31 encephalocele 11.7
32 iniencephaly 11.6
33 neurogenic bowel 11.6
34 mthfr gene variant 11.6
35 omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects complex 11.6
36 chiari malformation 11.5
37 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.4
38 basal cell nevus syndrome 11.3
39 sprengel deformity 11.3
40 syringomyelia, noncommunicating isolated 11.3
41 gluteal muscles, absence of 11.3
42 valproate embryopathy 11.3
43 spinal disease 11.3
44 cauda equina syndrome 11.3
45 acrodysplasia scoliosis 11.3
46 acropectorovertebral dysplasia f form 11.3
47 cervical hypertrichosis peripheral neuropathy 11.3
48 congenital laryngeal palsy 11.3
49 fibular hemimelia 11.3
50 thakker-donnai syndrome 11.3

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



Diseases related to Neural Tube Defects

Symptoms & Phenotypes for Neural Tube Defects

Human phenotypes related to Neural Tube Defects:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hydrocephalus 33 HP:0000238
2 multiple lipomas 33 HP:0001012
3 spina bifida occulta 33 HP:0003298
4 lipoma 33 HP:0012032
5 anencephaly 33 HP:0002323
6 urinary incontinence 33 HP:0000020
7 absence of the sacrum 33 HP:0010305
8 myelomeningocele 33 HP:0002475
9 asymmetry of spinal facet joints 33 HP:0008482

Symptoms via clinical synopsis from OMIM:

58
Spine:
hydrocephalus
spina bifida
spina bifida occulta
anencephaly
spinal dysraphism
more
Neuro:
urinary incontinence
neurologic signs in legs

Clinical features from OMIM:

182940

MGI Mouse Phenotypes related to Neural Tube Defects:

47 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 CELSR1 DACT1 FUZ MTHFD1 MTHFR MTRR
2 mortality/aging MP:0010768 10.39 AFP CELSR1 DACT1 FUZ MTHFD1 MTHFR
3 embryo MP:0005380 10.35 CELSR1 DACT1 FUZ MTHFD1 PARD3 PAX3
4 cardiovascular system MP:0005385 10.31 DACT1 FUZ MTHFD1 PARD3 PAX3 PDGFRA
5 limbs/digits/tail MP:0005371 10.29 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
6 nervous system MP:0003631 10.28 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
7 homeostasis/metabolism MP:0005376 10.24 AFP FUZ MTHFD1 MTHFR MTR MTRR
8 digestive/alimentary MP:0005381 10.2 DACT1 FUZ PAX3 PDGFRA SCRIB SLC19A1
9 craniofacial MP:0005382 10.16 CELSR1 FUZ PAX3 PDGFRA SCRIB TBXT
10 no phenotypic analysis MP:0003012 10.01 DACT1 MTHFR PARD3 PAX3 PDGFRA SCRIB
11 hearing/vestibular/ear MP:0005377 9.99 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
12 reproductive system MP:0005389 9.96 AFP CELSR1 DACT1 MTHFR PDGFRA SCRIB
13 renal/urinary system MP:0005367 9.87 DACT1 PAX3 PDGFRA SCRIB SLC19A1 TBXT
14 respiratory system MP:0005388 9.7 CELSR1 FUZ PAX3 PDGFRA SCRIB VANGL1
15 skeleton MP:0005390 9.7 CELSR1 DACT1 FUZ MTHFR PAX3 PDGFRA
16 pigmentation MP:0001186 9.67 FUZ PAX3 PDGFRA ZIC2
17 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 166)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxybutynin Approved, Investigational Phase 4,Phase 3 5633-20-5 4634
2
Acetylcholine Approved, Investigational Phase 4,Phase 3 51-84-3 187
3
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 2713 9552079
4
Glycerol Approved, Investigational Phase 4 56-81-5 753
5 Botulinum Toxins Phase 4,Phase 3
6 Neurotransmitter Agents Phase 4,Phase 3
7 Acetylcholine Release Inhibitors Phase 4,Phase 3
8 Neuromuscular Agents Phase 4,Phase 3
9 Botulinum Toxins, Type A Phase 4,Phase 3
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
11 abobotulinumtoxinA Phase 4,Phase 3
12 Cholinergic Agents Phase 4,Phase 3
13 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Not Applicable
14 Anti-Infective Agents, Urinary Phase 4,Phase 3
15 Parasympatholytics Phase 4,Phase 3
16 Autonomic Agents Phase 4,Phase 3
17 Muscarinic Antagonists Phase 4,Phase 3
18 Cholinergic Antagonists Phase 4,Phase 3
19 Renal Agents Phase 4,Phase 3
20 Mandelic Acids Phase 4,Phase 3
21 Disinfectants Phase 4
22 Chlorhexidine gluconate Phase 4
23 Dermatologic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
24 Anti-Infective Agents, Local Phase 4,Not Applicable
25 Pharmaceutical Solutions Phase 4,Phase 1,Not Applicable
26 Cola Phase 4,Not Applicable
27 Protective Agents Phase 4,Phase 3,Early Phase 1
28
leucovorin Approved Phase 3,Phase 1,Not Applicable 58-05-9 143 6006
29
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
30
Drospirenone Approved Phase 3 67392-87-4 68873
31
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
32
Polyestradiol phosphate Approved Phase 3 28014-46-2
33
Hydroxocobalamin Approved Phase 3,Not Applicable 13422-51-0 15589840 11953898
34
Methylcobalamin Approved, Experimental, Investigational Phase 3,Not Applicable 13422-55-4
35
Zinc Approved, Investigational Phase 3 7440-66-6 32051
36
Iodine Approved, Investigational Phase 3 7553-56-2 807
37 Orange Approved Phase 3
38
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
39
Copper Approved, Investigational Phase 3 7440-50-8 27099
40
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
41
Iron Approved, Experimental Phase 3 7439-89-6, 15438-31-0 27284 23925
42
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
43
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1,Not Applicable 59-30-3 6037
44
Calcium Approved, Nutraceutical Phase 3,Not Applicable 7440-70-2 271
45
Cyanocobalamin Approved, Nutraceutical Phase 3,Not Applicable 68-19-9 44176380
46
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
48
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
49
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
50
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 70-16-6, 59-43-8 1130

Interventional clinical trials:

(show top 50) (show all 139)
# 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 (CIK) 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 Patch vs. No Patch Fetoscopic Meningomyelocele Repair Study Recruiting NCT03794011 Phase 1
27 Fetoscopic Meningomyelocele Repair Study Active, not recruiting NCT02230072 Phase 1
28 Pain Biomarker Study Active, not recruiting NCT03511846 Phase 1 Oral capsaicin;Topical capsaicin;Intranasal capsaicin;Low Flow Oxygen;High Flow Oxygen
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 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
34 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835 Not Applicable
35 Dural Graft Equivalent Comparison Trial Unknown status NCT01667770 Not Applicable
36 Cuff Pressure in Infants Unknown status NCT03088761
37 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407 Not Applicable
38 Comparison of Four Questionnaires for OSA Screening in China Unknown status NCT03074747
39 Influence of "Espresso" on Adsorption of Myo-inositol Completed NCT01244399
40 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
41 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 Not Applicable multivitamin
42 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
43 Outcome of Fetal Spina Bifida Completed NCT01100697
44 Folate Metabolism in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
45 Management of Myelomeningocele Study (MOMS) Completed NCT00060606 Not Applicable
46 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
47 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
48 Can Dynamic Ultrasonography Replace Urodynamics in Follow-up of Patients With Myelomeningocele Completed NCT03550898 Not Applicable
49 Effects of Maternal Folate and Folic Acid Supplementation on DNA Methylation in the Newborn Infant Completed NCT02244684
50 Nutrition Intervention for the Promotion of Healthy Weight Gain During Pregnancy Completed NCT01056406 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 30 CCL2 FUZ TBXT VANGL1 VANGL2
2 Spina Bifida 30

Anatomical Context for Neural Tube Defects

MalaCards organs/tissues related to Neural Tube Defects:

42
Spinal Cord, Brain, Testes, Bone, Skin, Colon, Kidney
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 5513)
# Title Authors Year
1
Peer support interventions for individuals with acquired brain injury, cerebral palsy, and spina bifida: a systematic review. ( 31068184 )
2019
2
"With CO-OP I'm the boss" - experiences of the cognitive orientation to daily occupational performance approach as reported by young adults with cerebral palsy or spina bifida. ( 31081393 )
2019
3
Impact of bowel management in alleviating symptoms of urinary incontinence in patients with spina bifida associated with overactive bladder and detrusor sphincter dyssynergia. ( 29802783 )
2019
4
Predicting Down syndrome and neural tube defects using basic risk factors. ( 30877513 )
2019
5
Association of Klippel-Feil syndrome, Dandy-Walker malformation, spina bifida: A case report. ( 30705709 )
2019
6
Aberrant methylation of Pax3 gene and neural tube defects in association with exposure to polycyclic aromatic hydrocarbons. ( 30665459 )
2019
7
Variants identified in PTK7 associated with neural tube defects. ( 30689296 )
2019
8
Maternal Lactase Polymorphism (rs4988235) Is Associated with Neural Tube Defects in Offspring in the National Birth Defects Prevention Study. ( 30689919 )
2019
9
Short-term results of patients with neural tube defects followed-up in the Konya region, Turkey. ( 30708397 )
2019
10
TRIM4 is associated with neural tube defects based on genome-wide DNA methylation analysis. ( 30709423 )
2019
11
Association of maternal chronic arsenic exposure with the risk of neural tube defects in Northern China. ( 30807959 )
2019
12
The rare mutation in the endosome-associated recycling protein gene VPS50 is associated with human neural tube defects. ( 30828385 )
2019
13
Vitamin B-12 and liver activity and expression of methionine synthase are decreased in fetuses with neural tube defects. ( 30848279 )
2019
14
Association of neural tube defects with maternal alterations and genetic polymorphisms in one-carbon metabolic pathway. ( 30867013 )
2019
15
Real Prevalence of Neural Tube Defects in Japan: How many of such pregnancies have been terminated? ( 30883906 )
2019
16
Evaluation of Neural Tube Defects (NTD) After Exposure to Raltegravir During Pregnancy. ( 30908331 )
2019
17
Association of maternal risk factors with the recent rise of neural tube defects in Canada. ( 30920008 )
2019
18
Awareness of risk factors and preventive measures for neural tube defects and the Saudi population perception towards pregnancy termination as a possible option. ( 30932895 )
2019
19
Temporal expression of genes involved in folate metabolism and transport during placental development, preeclampsia and neural tube defects. ( 30941645 )
2019
20
Maternal second trimester blood levels of selected heavy metals in pregnancies complicated with neural tube defects. ( 29471703 )
2019
21
Disturbed intracellular calcium homeostasis in neural tube defects in diabetic embryopathy. ( 31092336 )
2019
22
Open fetal surgery for neural tube defects. ( 31078425 )
2019
23
Casp8 hypomethylation and neural tube defects in association with polycyclic aromatic hydrocarbon exposure. ( 31064411 )
2019
24
Maternal periconceptional body mass index and risk for neural tube defects: results from a large cohort study in China. ( 31006286 )
2019
25
Clomiphene citrate and neural tube defects: a meta-analysis of controlled observational studies. ( 31006176 )
2019
26
Defining the plasma folate concentration associated with the red blood cell folate concentration threshold for optimal neural tube defects prevention: a population-based, randomized trial of folic acid supplementation. ( 31005964 )
2019
27
A case-control analysis of maternal diet and risk of neural tube defects in Bangladesh. ( 30989821 )
2019
28
One-Carbon Cofactor Intake and Risk of Neural Tube Defects Among Women Who Meet Folic Acid Recommendations: A Multicenter Case-Control Study. ( 30976786 )
2019
29
Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects. ( 30970248 )
2019
30
Maternal genetic markers for risk of celiac disease and their potential association with neural tube defects in offspring. ( 30968606 )
2019
31
Nutritional status among women whose pregnancy outcome was afflicted with neural tube defects in Tigray region of Ethiopia. ( 30651190 )
2019
32
Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review. ( 30633186 )
2019
33
Whole exome sequencing identifies novel predisposing genes in neural tube defects. ( 30415495 )
2019
34
Maternal risk factors associated with neural tube defects in Tigray regional state of Ethiopia. ( 30075882 )
2019
35
Neurological outcomes by mode of delivery for fetuses with open neural tube defects: a systematic review and meta-analysis. ( 29924919 )
2019
36
Role of Neurocognitive Factors in Academic Fluency for Children and Adults With Spina Bifida Myelomeningocele. ( 30864535 )
2019
37
Epidural Analgesia Decreases Narcotic Requirements in Patients with Low Level Spina Bifida Undergoing Urological Laparotomy for Neurogenic Bladder and Bowel. ( 30577407 )
2019
38
Are EAU/ESPU pediatric urology guideline recommendations on neurogenic bladder well received by the patients? Results of a survey on awareness in spina bifida patients and caregivers. ( 31102557 )
2019
39
Neurodevelopmental outcome of children with spina bifida aperta repaired prenatally vs postnatally: systematic review and meta-analysis. ( 30520204 )
2019
40
MGMT is down-regulated independently of promoter DNA methylation in rats with all-trans retinoic acid-induced spina bifida aperta. ( 30531021 )
2019
41
Long-term neuroimaging and neurological outcome of fetal spina bifida aperta after postnatal surgical repair. ( 30663167 )
2019
42
Encouraging Results of Bowel and Bladder Management in Spina Bifida Aperta in South India with Quality of Life Scores in a Tertiary Care Institution in South India. ( 30686883 )
2019
43
An Adolescent Athlete with Low Back Pain Associated with Spina Bifida Occulta at the Thoracolumbar Junction : A Case Report. ( 31064941 )
2019
44
Dermoid sinus type VI associated with spina bifida and tethered cord syndrome in a French Bulldog. ( 30734666 )
2019
45
In Vivo Evaluation of Novel PLA/PCL Polymeric Patch in Rats for Potential Spina Bifida Coverage. ( 31071606 )
2019
46
Children with spina bifida in Eastern Uganda report a reasonable quality of life relative to their healthy school-attending peers. ( 29748330 )
2019
47
Complications of Delivery Among Mothers With Spina Bifida. ( 29908216 )
2019
48
Clinical and Histologic Evaluation of the Hysterotomy Site and Fetal Membranes after Open Fetal Surgery for Fetal Spina Bifida Repair. ( 30048967 )
2019
49
Delivery mode choice adds to complexity of counselling for spina bifida. ( 30130001 )
2019
50
Dominant negative GPR161 rare variants are risk factors of human spina bifida. ( 30256984 )
2019

Variations for Neural Tube Defects

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

76 (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 rs111416735
7 PARD3 p.Pro913Gln VAR_079848 rs781461462
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 308)
# 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 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh37 Chromosome 1, 116245551: 116245551
20 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1005T> C (p.Asn335=) single nucleotide variant Benign/Likely benign rs28730712 GRCh38 Chromosome 1, 115702930: 115702930
21 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh37 Chromosome 1, 116245533: 116245533
22 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1014+9C> T single nucleotide variant Benign/Likely benign rs77775029 GRCh38 Chromosome 1, 115702912: 115702912
23 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh37 Chromosome 1, 116243877: 116243877
24 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1185C> T (p.Asp395=) single nucleotide variant Benign/Likely benign rs7413162 GRCh38 Chromosome 1, 115701256: 115701256
25 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh37 Chromosome 1, 116243868: 116243868
26 CASQ2; VANGL1 NM_001232.3(CASQ2): c.1194T> C (p.Asp398=) single nucleotide variant Benign/Likely benign rs28730711 GRCh38 Chromosome 1, 115701247: 115701247
27 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh37 Chromosome 1, 116206512: 116206512
28 VANGL1 NM_138959.2(VANGL1): c.435T> C (p.Cys145=) single nucleotide variant Benign/Likely benign rs34768472 GRCh38 Chromosome 1, 115663891: 115663891
29 CELSR1 NM_014246.1(CELSR1): c.5723_5724delTG (p.Val1908Glyfs) deletion risk factor rs786201016 GRCh37 Chromosome 22, 46792621: 46792622
30 CELSR1 NM_014246.1(CELSR1): c.5052_5053dupTG (p.Glu1685Valfs) duplication risk factor rs786201015 GRCh38 Chromosome 22, 46409761: 46409762
31 CELSR1 NM_014246.1(CELSR1): c.5052_5053dupTG (p.Glu1685Valfs) duplication risk factor rs786201015 GRCh37 Chromosome 22, 46805658: 46805659
32 CELSR1 NM_014246.1(CELSR1): c.5723_5724delTG (p.Val1908Glyfs) deletion risk factor rs786201016 GRCh38 Chromosome 22, 46396724: 46396725
33 VANGL1 NM_138959.2(VANGL1): c.542G> A (p.Arg181Gln) single nucleotide variant risk factor rs761123443 GRCh37 Chromosome 1, 116206619: 116206619
34 VANGL1 NM_138959.2(VANGL1): c.542G> A (p.Arg181Gln) single nucleotide variant risk factor rs761123443 GRCh38 Chromosome 1, 115663998: 115663998
35 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant risk factor rs786204030 GRCh37 Chromosome 1, 11851333: 11851333
36 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant risk factor rs786204030 GRCh38 Chromosome 1, 11791276: 11791276
37 PARD3 NM_019619.3(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 GRCh37 Chromosome 10, 34400423: 34400423
38 PARD3 NM_019619.3(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 GRCh38 Chromosome 10, 34111495: 34111495
39 PARD3 NM_019619.3(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 GRCh38 Chromosome 10, 34331221: 34331221
40 PARD3 NM_019619.3(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 GRCh37 Chromosome 10, 34620149: 34620149
41 PARD3 NM_019619.3(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 GRCh37 Chromosome 10, 34625160: 34625160
42 PARD3 NM_019619.3(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 GRCh38 Chromosome 10, 34336232: 34336232
43 PARD3 NM_019619.3(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh37 Chromosome 10, 34630624: 34630624
44 PARD3 NM_019619.3(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh38 Chromosome 10, 34341696: 34341696
45 PARD3 NM_019619.3(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant Uncertain significance rs199923448 GRCh37 Chromosome 10, 34671821: 34671821
46 PARD3 NM_019619.3(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant Uncertain significance rs199923448 GRCh38 Chromosome 10, 34382893: 34382893
47 PARD3 NM_019619.3(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 GRCh37 Chromosome 10, 34739379: 34739379
48 PARD3 NM_019619.3(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 GRCh38 Chromosome 10, 34450451: 34450451
49 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh37 Chromosome 10, 34835589: 34975192
50 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh38 Chromosome 10, 34546661: 34686264

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:

38
# 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
12.26 MTHFD1 MTHFR MTR MTRR SLC19A1
2 11.72 AFP PAX3 SCRIB VANGL1
3
Show member pathways
11.43 CCL2 MTHFD1 MTHFR MTR MTRR SLC19A1
4
Show member pathways
11.41 MTHFD1 MTHFR MTR MTRR
5 10.64 MTR MTRR

GO Terms for Neural Tube Defects

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.99 DACT1 MTR PAX3 ZIC1 ZIC2
2 animal organ morphogenesis GO:0009887 9.79 CCL2 PAX3 PDGFRA
3 anterior/posterior pattern specification GO:0009952 9.78 CELSR1 TBXT VANGL2
4 wound healing GO:0042060 9.73 CELSR1 PDGFRA SCRIB VANGL2
5 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.72 CELSR1 VANGL1 VANGL2
6 cellular amino acid biosynthetic process GO:0008652 9.71 MTHFD1 MTR MTRR
7 multicellular organism development GO:0007275 9.7 CELSR1 DACT1 FUZ PAX3 PDGFRA SCRIB
8 hair follicle development GO:0001942 9.69 CELSR1 FUZ VANGL2
9 one-carbon metabolic process GO:0006730 9.63 MTHFD1 MTHFR
10 cobalamin metabolic process GO:0009235 9.63 MTR MTRR
11 signal transduction involved in regulation of gene expression GO:0023019 9.62 PDGFRA TBXT
12 post-anal tail morphogenesis GO:0036342 9.61 TBXT VANGL2
13 planar cell polarity pathway involved in neural tube closure GO:0090179 9.6 CELSR1 VANGL2
14 apical protein localization GO:0045176 9.58 CELSR1 VANGL2
15 tetrahydrofolate interconversion GO:0035999 9.58 MTHFD1 MTHFR
16 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.58 PARD3 SCRIB VANGL2
17 homocysteine metabolic process GO:0050667 9.57 MTHFR MTRR
18 astrocyte cell migration GO:0043615 9.56 CCL2 SCRIB
19 folic acid metabolic process GO:0046655 9.56 MTHFD1 MTHFR MTRR SLC19A1
20 establishment of planar polarity GO:0001736 9.54 CELSR1 FUZ VANGL2
21 establishment of body hair planar orientation GO:0048105 9.52 CELSR1 VANGL2
22 methionine metabolic process GO:0006555 9.5 MTHFD1 MTHFR MTRR
23 lateral sprouting involved in lung morphogenesis GO:0060490 9.49 CELSR1 VANGL2
24 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.48 CELSR1 VANGL2
25 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.46 CELSR1 VANGL2
26 methionine biosynthetic process GO:0009086 9.46 MTHFD1 MTHFR MTR MTRR
27 neural tube closure GO:0001843 9.17 CELSR1 FUZ MTHFD1 MTHFR SCRIB TBXT

Sources for Neural Tube Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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