Neural Tube Defects (NTD)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Neural Tube Defects

MalaCards integrated aliases for Neural Tube Defects:

Name: Neural Tube Defects 57 19 73 12 53 41 14
Spina Bifida 57 11 19 42 52 75 73 53 41 2 14 16 31 33
Neural Tube Defect 11 58 28 5 14 75
Neural Tube Defects, Susceptibility to 57 5 38
Spinal Dysraphism 42 43 33
Ntd 57 73 2
Spina Bifida, Susceptibility to 57 5
Rachischisis 42 33
Neural Tube Defect Nos 33
Sb - [spina Bifida] 33
Hydrocele Spinalis 33
Spinal Fissure Nos 33
Spinal Hernia Nos 33
Cleft Spine 42
Open Spine 42



Autosomal dominant 57


Neural Tube Defect: 6-9/10000 (United States, Europe, Belgium, Austria, Czech Republic, Finland, Hungary, Ireland, Netherlands, Norway, Poland, Spain) 1-5/10000 (Croatia, Italy, Portugal, Brazil) >1/1000 (Denmark, France, Germany, Malta, Switzerland, United Kingdom, China) 58


Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis

Summaries for Neural Tube Defects

MedlinePlus Genetics: 42 Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect.Children born with spina bifida often have a fluid-filled sac on their back that is covered by skin, called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of these abnormalities range from mild to severe, depending on where the opening in the spinal column is located and how much of the spinal cord is contained in the sac. Related problems can include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, and problems with bladder and bowel control. Some affected individuals have additional complications, including a buildup of excess fluid around the brain (hydrocephalus) and learning problems. With surgery and other forms of treatment, many people with spina bifida live into adulthood.In a milder form of the condition, called spina bifida occulta, the bones of the spinal column are abnormally formed, but the nerves of the spinal cord usually develop normally. Unlike in the more severe form of spina bifida, the spinal cord does not stick out through an opening in the spine. Spina bifida occulta most often causes no health problems, although rarely it can cause back pain or changes in bladder function.

MalaCards based summary: Neural Tube Defects, also known as spina bifida, is related to neural tube defects, folate-sensitive and anencephaly. An important gene associated with Neural Tube Defects is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Wnt / Hedgehog / Notch. 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 hydrocephalus and multiple lipomas

GARD: 19 Spina bifida is a type of neural tube defect in which the neural tube (the structure in an embryo that becomes the brain and spinal cord) does not completely close during development in the womb. This may result in part of the spinal cord sticking out through an opening in the spine, leading to permanent nerve damage. Babies born with Spina bifida often have a fluid-filled sac, covered by skin, on their back. This is called a meningocele. If the sac contains part of the spinal cord and its protective covering, it is known as a myelomeningocele. The signs and symptoms of Spina bifida can range from mild to severe, depending on the location and extent of spinal cord involvement. Possible symptoms include include a loss of feeling below the level of the opening, weakness or paralysis of the feet or legs, problems with bladder and bowel control, hydrocephalus, and learning problems. The cause in most cases is multifactorial, which means that both genetic and environmental factors interact to cause Spina bifida. Some cases may be due to the inheritance of specific genetic changes, chromosome abnormalities, or fetal exposure to teratogens. Maternal folate deficiency increases the risk to have a baby with Spina bifida, and women who take folic acid supplements before and during early pregnancy are much less likely to have a baby with Spina bifida. There is also a milder form of the condition called Spina bifida occulta in which the nerves develop normally and health problems rarely occur.

NINDS: 52 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).

MedlinePlus: 41 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

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 (see 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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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.

CDC: 2 Neglected tropical diseases (NTDs) are a group of parasitic and bacterial diseases that cause substantial illness for more than one billion people globally. Affecting the world's poorest people, NTDs impair physical and cognitive development, contribute to mother and child illness and death, make it difficult to farm or earn a living, and limit productivity in the workplace. As a result, NTDs trap the poor in a cycle of poverty and disease.

Disease Ontology 11 Spina bifida: A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.

Neural tube defect: A physical disorder characterized by incomplete closure of the neural tube.

Wikipedia 75 Neural tube defect: Neural tube defects (NTDs) are a group of birth defects in which an opening in the spine or cranium... more...

Spina bifida: Spina bifida (Latin for 'split spine'; SB) is a birth defect in which there is incomplete closing of the... 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 924)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 34.2 MTRR MTR MTHFR MTHFD1
2 anencephaly 33.5 ZIC2 VANGL2 VANGL1 TBXT SCRIB PARD3
3 cervical spina bifida aperta 33.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
4 meningocele 32.9 VANGL1 MTHFR CELSR1 AFP
5 lumbosacral spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
6 cervical spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
7 total spina bifida aperta 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
8 cervicothoracic spina bifida aperta 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
9 lumbosacral spina bifida aperta 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
10 thoracolumbosacral spina bifida aperta 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
11 upper thoracic spina bifida aperta 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
12 total spina bifida cystica 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
13 thoracolumbosacral spina bifida cystica 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
14 cervicothoracic spina bifida cystica 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
15 upper thoracic spina bifida cystica 32.8 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
16 myelomeningocele 32.7 VANGL2 VANGL1 TBXT SLC19A1 SCRIB PAX3
17 down syndrome 32.2 SLC19A1 MTRR MTR MTHFR AFP
18 tethered spinal cord syndrome 32.1 VANGL2 VANGL1 SCRIB MTHFD1 CELSR1 AFP
19 craniorachischisis 31.9 VANGL2 DACT1
20 spina bifida occulta 31.9 VANGL2 VANGL1 MTHFR MTHFD1 FUZ CELSR1
21 cleft lip 31.9 SLC19A1 MTRR MTR MTHFR
22 cleft palate, isolated 31.8 SLC19A1 PAX3 MTRR MTR MTHFR MTHFD1
23 vitamin b12 deficiency 31.7 MTRR MTR MTHFR
24 hyperhomocysteinemia 31.6 SLC19A1 MTRR MTR MTHFR MTHFD1 H19
25 sacral defect with anterior meningocele 31.3 VANGL1 TBXT FUZ CELSR1
26 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 31.3 MTR MTHFR
27 isolated anencephaly 31.2 VANGL2 MTHFR
28 strabismus 31.2 VANGL2 VANGL1 PARD3 CELSR1
29 orofacial cleft 31.1 ZIC2 PAX3 MTRR MTR MTHFR MTHFD1
30 homocystinuria 31.1 MTRR MTR MTHFR
31 isolated exencephaly 31.1 VANGL2 MTHFR
32 megaloblastic anemia 30.9 SLC19A1 MTRR MTR MTHFR MTHFD1
33 homocysteinemia 30.8 MTRR MTR MTHFR
34 methylmalonic aciduria, cbla type 30.8 MTRR MTR MTHFR
35 choline deficiency disease 30.8 MTR MTHFR MTHFD1
36 nondisjunction 30.7 MTRR MTHFR
37 methylmalonic acidemia 30.7 MTRR MTR MTHFR
38 marfan syndrome 30.6 MTRR MTR MTHFR
39 autism spectrum disorder 30.5 SLC19A1 MTRR MTR MTHFR KMT5B
40 spina bifida hypospadias 11.8
41 neural tube defects, x-linked 11.6
42 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 11.6
43 encephalocele 11.5
44 anencephaly and spina bifida x-linked 11.4
45 iniencephaly 11.4
46 kasznica carlson coppedge syndrome 11.4
47 spondylocostal dysostosis 11.3
48 schisis association 11.3
49 acrofacial dysostosis, catania type 11.3
50 blepharocheilodontic syndrome 1 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:

30 (show all 10)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 30 HP:0000238
2 multiple lipomas 30 HP:0001012
3 sacral dimple 30 HP:0000960
4 spina bifida occulta 30 HP:0003298
5 lipoma 30 HP:0012032
6 anencephaly 30 HP:0002323
7 absence of the sacrum 30 HP:0010305
8 myelomeningocele 30 HP:0002475
9 urinary incontinence 30 HP:0000020
10 asymmetry of spinal facet joints 30 HP:0008482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neurologic Central Nervous System:
spina bifida occulta
spinal dysraphism
spina bifida cystica
Skin Nails Hair Skin:
sacral dimple
sacral hairy patch

Skeletal Spine:
spina bifida
sacral dimple
asymmetry of spinal facet joints
sacral agenesis

Genitourinary Bladder:
urinary incontinence

Clinical features from OMIM®:

182940 (Updated 08-Dec-2022)

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

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 AFP CCL2 CELSR1 H19 MTHFD1 TBXT

MGI Mouse Phenotypes related to Neural Tube Defects:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.42 CCL2 CELSR1 DACT1 FUZ KMT5B MTHFD1
2 nervous system MP:0003631 10.39 CCL2 CELSR1 DACT1 FUZ MTHFD1 MTHFR
3 homeostasis/metabolism MP:0005376 10.37 AFP CCL2 FUZ KMT5B MTHFD1 MTHFR
4 limbs/digits/tail MP:0005371 10.31 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
5 embryo MP:0005380 10.29 CELSR1 DACT1 FUZ MTHFD1 PARD3 PAX3
6 cardiovascular system MP:0005385 10.18 CCL2 DACT1 FUZ MTHFD1 MTRR PARD3
7 digestive/alimentary MP:0005381 10.11 CCL2 DACT1 FUZ PAX3 SCRIB SLC19A1
8 pigmentation MP:0001186 10.03 CCL2 FUZ PARD3 PAX3 VANGL1 ZIC2
9 craniofacial MP:0005382 10.03 CCL2 CELSR1 FUZ PAX3 SCRIB TBXT
10 reproductive system MP:0005389 10.02 AFP CCL2 CELSR1 DACT1 MTHFR SCRIB
11 skeleton MP:0005390 10 CCL2 CELSR1 DACT1 FUZ KMT5B MTHFR
12 hearing/vestibular/ear MP:0005377 9.99 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
13 respiratory system MP:0005388 9.97 CELSR1 FUZ KMT5B PAX3 SCRIB VANGL1
14 mortality/aging MP:0010768 9.91 CCL2 CELSR1 DACT1 FUZ KMT5B MTHFD1
15 vision/eye MP:0005391 9.81 CCL2 CELSR1 FUZ MTHFR PARD3 PAX3
16 integument MP:0010771 9.28 CCL2 CELSR1 MTHFR PARD3 PAX3 SLC19A1

Drugs & Therapeutics for Neural Tube Defects

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

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
abobotulinumtoxinA Phase 4
4 Botulinum Toxins, Type A Phase 4
5 Botulinum Toxins Phase 4
6 Cholinergic Agents Phase 4
Drospirenone Approved Phase 3 67392-87-4 68873
8 diuretics Phase 3
9 Calcium, Dietary Phase 3
10 Drospirenone and ethinyl estradiol combination Phase 3
11 Diuretics, Potassium Sparing Phase 3
12 Mineralocorticoids Phase 3
13 Mineralocorticoid Receptor Antagonists Phase 3
Calcium Nutraceutical Phase 3 7440-70-2 271
Acetazolamide Approved, Vet_approved Phase 2 59-66-5, 1424-27-7 1986
Mycophenolic acid Approved, Investigational Phase 2 24280-93-1 446541
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
19 Carbonic Anhydrase Inhibitors Phase 2
20 Anticonvulsants Phase 2
21 Antirheumatic Agents Phase 2
22 Calcineurin Inhibitors Phase 2
23 Cyclosporins Phase 2
24 Antifungal Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 Thymoglobulin Phase 2
27 Antitubercular Agents Phase 2
28 Immunosuppressive Agents Phase 2
29 Dermatologic Agents Phase 2
30 Immunologic Factors Phase 2
31 Antibiotics, Antitubercular Phase 1, Phase 2
32 Analgesics Phase 1, Phase 2
Inositol Approved, Investigational, Withdrawn Phase 1 87-89-8
Nitrous oxide Approved, Vet_approved 10024-97-2 948
Cefoxitin Approved 35607-66-0 441199
Cefotaxime Approved 63527-52-6 5742673 456256
Rifampicin Approved 13292-46-1 135512673 5381226 135900090
Atosiban Approved, Investigational 90779-69-4 21183636 5311010
Terbutaline Approved 23031-25-6 5403
Pamidronic acid Approved 40391-99-9 4674
Metformin Approved 1115-70-4, 657-24-9 4091
Mometasone furoate Approved, Investigational, Vet_approved 83919-23-7 4240 441336
Caffeine Approved 58-08-2 2519
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
Tannic acid Approved 1401-55-4 16129878 16129778
Pyrantel Approved, Vet_approved 15686-83-6
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
Imidacloprid Vet_approved 105827-78-9 86418
Bisphenol A Experimental 80-05-7 6623
50 Cola

Interventional clinical trials:

(show top 50) (show all 134)
# Name Status NCT ID Phase Drugs
1 Phase 4 Study of the Effect of Botulinum-A Toxin Injected in Neurogenic Overactive Bladders of Children Born With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 Multi-Center, Randomized, Double-Blind Active-Controlled, Parallel Group Study to Investigate Plasma Folate, Red Blood Cell Folate and Homocysteine Levels During a 24 Week Oral Administration of an OC Containing Folate Compared to OC Alone Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
3 A Randomized, Double-Blind, Two-Part, Parallel-Group, Comparative Study to Evaluate Blood Folate Levels in Women Taking an Oral Contraceptive With and Without Folic Acid Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
4 Evaluating the Effect of Acetazolamide Administration and Prone Positioning Following Lumbosacral Spinal Surgery in Preventing Cerebro Spinal Fluid Leakage and Collection and Wound Dehiscence in Children. Unknown status NCT01867268 Phase 2 Acetazolamide
5 The Impact of Self-Management With Probiotics on Urinary Symptoms and the Urine Microbiome in Individuals With Spinal Cord Injury (SCI) and Spina Bifida (SB)" Completed NCT02748317 Phase 2 Lactobacillus rhamnosus GG
6 The Impact of Self-Management With Probiotics on Urinary Symptoms and the Urine Microbiome in Individuals With Spinal Cord Injury (SCI) and Spina Bifida (SB) Completed NCT02748356 Phase 2 Lactobacillus
7 Coping Skills Training (CST) for Children With Chronic Health Conditions: An Extension From Children With Diabetes to Children With Rheumatologic Conditions, Epilepsy, Spina Bifida, and Asthma Completed NCT00359775 Phase 2
8 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
9 Post Transplant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy After Non-Myeloablative Allogeneic Transplantation in Patients With Myelodysplasia or Myeloproliferative Disorders Completed NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
10 Phase II Pilot Randomized-Controlled Trial for the Investigation of the Preliminary Efficacy of Surgical Sectioning of the Filum Terminale in Treating Occult Tethered Cord Syndrome Patients Recruiting NCT05163899 Phase 2
11 Phase 1/2a Trial of Placental Mesenchymal Stem Cells for Repair of Fetal Myelomeningocele Recruiting NCT04652908 Phase 1, Phase 2
12 An Open-Label Multicenter Study of Augmentation Cystoplasty Using an Autologous Neo-Bladder Construct in Subjects With Spina Bifida Terminated NCT00419120 Phase 2
13 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
14 Autologous Bone Marrow Mononuclear Cell Administration in the Treatment of Neurologic Sequela in Children With Spina Bifida Completed NCT05472428 Phase 1
15 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
16 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Active, not recruiting NCT03794011 Phase 1
17 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
18 Fecal Microbium Change in Pediatric Patients With Spina Bifida: Prospective Case-control Study Unknown status NCT04186130
19 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
20 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
21 The Spina Bifida Research Resource Unknown status NCT00031122
22 Spina Bifida in Daily Life: an Exploratory Study Unknown status NCT03148301
23 Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function Unknown status NCT02440984
24 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761
25 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Unknown status NCT03788122
26 The Effects of Physical Therapy Associated With Photobiomodulation on Functional Performance in Children With Low Lumbar and Sacral Myelomeningocele - A Randomized, Blinded Clinical Trial. Unknown status NCT04425330
28 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
29 Knowledge and Follow-up of Vitamin B9 Supplementation Recommendations for Women in the Periconceptional Period to Prevent Neural Tube Closure Defects: a Study Conducted With Health Professionnals and Women Who Have Just Given Birth in Rennes CHU. Unknown status NCT04195542
30 Interrater and Intrarater Reliability of Infant Motor Profile: Assessing Motor Profiles of Risky Infants Unknown status NCT03188107
31 Genetics of Neural Tubes Defects Unknown status NCT01253746
32 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
33 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome: A Conservative Treatment- Controlled, Randomized, Clinical Study Unknown status NCT03262844
34 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
35 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
36 Retrograde Colonic Irrigation to Manage Spina Bifida Functional Digestive Sequelae: a Multicenter, Prospective, Randomized Controlled Trial Completed NCT02361450
37 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
38 The Relationship Between Nocturnal Enuresis And Spina Bifida Occulta: A Prospective Controlled Trial Completed NCT03543995
39 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
40 Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life for Patients With Spina Bifida and Spinal Cord Injury Completed NCT03573726
41 Prenatal Endoscopic Repair of Fetal Spina Bifida Completed NCT02390895
42 Randomized Clinical Trial Using Sterile Single-use and Reused Polyvinylchloride Catheter For Intermittent Catheterization With Clean Technique In Neurogenic Bladder Due to Spina Bifida Completed NCT03424499
43 The Relationship Between Sensory and Motor Proficiency For Children With Spina Bifida Completed NCT05318677
44 Impact of a Standing Program in a Child With Spina Bifida: A Case Report Completed NCT05251740
45 A Comparison of the Incidence of Symptomatic Urinary Tract Infections in Children With Spina Bifida Using Hydrophilic or Non-hydrophilic Polyvinyl Chloride Catheters for Clean Intermittent Catheterization: a Randomized Cross Over Trial Completed NCT01263392
46 Cognitive Rehabilitation in Patients With Spina Bifida: Effects on Executive Functions, Psychological and Health Related Factors Completed NCT01302314
47 Telemedicine in Spina Bifida Transition: A Pilot Study Completed NCT03466996
48 Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing Completed NCT02854150
49 Urinary Markers of Detrusor Overactivity in Spina Bifida Patients Completed NCT02852317
50 Reliability of the Melbourne Assessment Completed NCT02595411

Search NIH Clinical Center for Neural Tube Defects

Cochrane evidence based reviews: spinal dysraphism

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

Anatomical Context for Neural Tube Defects

Organs/tissues related to Neural Tube Defects:

MalaCards : Spinal Cord, Brain, Skin, Bone, Heart, Bone Marrow, Eye
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 15332)
# Title Authors PMID Year
Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. 53 62 57 5
10332959 1999
Identification of novel CELSR1 mutations in spina bifida. 62 57 5
24632739 2014
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 62 57 5
21840926 2011
VANGL2 mutations in human cranial neural-tube defects. 62 57 5
20558380 2010
Mutations in VANGL1 associated with neural-tube defects. 62 57 5
17409324 2007
The human T locus and spina bifida risk. 62 57 5
15449172 2004
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 62 57 5
12116228 2002
Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury). 62 57 5
10817656 2000
Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. 62 57 5
8733136 1996
Rare Deleterious PARD3 Variants in the aPKC-Binding Region are Implicated in the Pathogenesis of Human Cranial Neural Tube Defects Via Disrupting Apical Tight Junction Formation. 62 5
27925688 2017
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations. 62 57
25208524 2015
Independent mutations at Arg181 and Arg274 of Vangl proteins that are associated with neural tube defects in humans decrease protein stability and impair membrane targeting. 62 5
25068569 2014
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects. 62 57
23326252 2012
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 62 57
22095531 2012
Contribution of VANGL2 mutations to isolated neural tube defects. 62 57
20738329 2011
Current perspectives on the genetic causes of neural tube defects. 62 57
16941185 2006
Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspring. 62 5
16596675 2006
Human neural tube defects: developmental biology, epidemiology, and genetics. 62 57
15939212 2005
Testing for genetic associations with the PAX gene family in a spina bifida population. 62 57
12116225 2002
Testing for genetic associations in a spina bifida population: analysis of the HOX gene family and human candidate gene regions implicated by mouse models of neural tube defects. 62 57
12116226 2002
Mouse models for neural tube closure defects. 62 57
10767323 2000
Neural-tube defects. 62 57
10559453 1999
Neural tube defects and deletions of 22q11. 62 57
8957506 1996
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. 62 57
7550316 1995
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. 62 57
7747757 1994
Inheritance of spina bifida in Icelandic lambs. 62 57
6384355 1984
Spinal anomalies and neural tube defects. 62 57
6881205 1983
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 62 57
6214946 1982
Spinal dysraphia as an autosomal dominant defect in four families. 62 57
6751087 1982
Spina bifida cystica families x-ray examination and HLA typing. 62 57
7012775 1981
HLA gene and haplotype frequencies in spina bifida. Population and family studies. 62 57
605436 1977
Spinal dysraphism: genetic relation to neural tube malformations. 62 57
794474 1976
The search for a human equivalent of the mouse T-locus - negative results from a study of HL-A types in spina bifida. 62 57
1098221 1975
A case of meningomyelocele in a kindred with multiple cases of spondylolisthesis and spina bifida occulta. 62 57
4600010 1974
Spina bifida cystica. Incidence of spina bifida occulta in parents and in controls. 62 57
5337444 1967
14269710 1965
Importance of urodynamic evaluation of bladder function after secondary untethering in spina bifida patients: single center experience of 30 years. 62 41
36454325 2022
Aetiology and diagnostics of paediatric hydrocephalus across Africa: a systematic review and meta-analysis. 62 41
36400085 2022
Global prevalence of congenital anencephaly: a comprehensive systematic review and meta-analysis. 62 41
36253858 2022
High Dietary Folic Acid Intake Is Associated with Genomic Instability in Peripheral Lymphocytes of Healthy Adults. 62 41
36235597 2022
Myelomeningocele, a congenital defect with severe form of spina bifida: a rare clinical image. 62 41
36405667 2022
MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa. 5
18940815 2009
A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. 5
16352737 2005
Atherosclerosis in patients infected with HIV is influenced by a mutant monocyte chemoattractant protein-1 allele. 5
15466648 2004
Involvement of polymorphisms in the chemokine system in the susceptibility for coronary artery disease (CAD). Coincidence of elevated Lp(a) and MCP-1 -2518 G/G genotype in CAD patients. 5
11500196 2001
The 6's and 17's of developmental mutants near the major histocompatibility complex: the mouse t-complex does not have a human equivalent. 57
3041804 1988
Is there a human T/t locus? 57
6835404 1983
L. C. Dunn and his contribution to T-locus genetics. 57
339812 1977
The clinical use of steroids in pancreatic transplantation. 57
1091051 1975
The risk of recurrence after two children with central-nervous-system malformations. 57
4163511 1967

Variations for Neural Tube Defects

ClinVar genetic disease variations for Neural Tube Defects:

5 (show top 50) (show all 245)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FUZ NM_025129.5(FUZ):c.446C>T (p.Thr149Ile) SNV Association
1329476 GRCh37: 19:50314666-50314666
GRCh38: 19:49811409-49811409
2 WIPI1, ARSG, PRKAR1A NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) SNV Affects
626260 rs146357218 GRCh37: 17:66425060-66425060
GRCh38: 17:68428919-68428919
3 RAD9B NM_001286535.2(RAD9B):c.960del (p.Ala321fs) DEL Pathogenic
694400 rs778121031 GRCh37: 12:110960045-110960045
GRCh38: 12:110522240-110522240
4 RAD9B NM_001286535.2(RAD9B):c.1199dup (p.Arg401fs) DUP Pathogenic
694421 rs748778907 GRCh37: 12:110968402-110968403
GRCh38: 12:110530597-110530598
5 PARD3 NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln) SNV Pathogenic
254185 rs781461462 GRCh37: 10:34620149-34620149
GRCh38: 10:34331221-34331221
6 PARD3 and overlap with 1 gene(s) NC_000010.10:g.34835589_34975192del139604 DEL Pathogenic
254190 GRCh37: 10:34835589-34975192
GRCh38: 10:34546661-34686264
7 PARD3 NM_001184785.2(PARD3):c.2339A>G (p.Asp780Gly) SNV Pathogenic
254187 rs1114167354 GRCh37: 10:34630624-34630624
GRCh38: 10:34341696-34341696
8 KMT5B NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) SNV Pathogenic
560606 rs114727354 GRCh37: 11:67941365-67941365
GRCh38: 11:68173898-68173898
9 PARD3 NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) SNV Risk Factor
254188 rs199923448 GRCh37: 10:34671821-34671821
GRCh38: 10:34382893-34382893
10 TBXT NM_001366285.2(TBXT):c.1037+79C>T SNV Risk Factor
8181 rs3127334 GRCh37: 6:166574246-166574246
GRCh38: 6:166160758-166160758
11 VANGL2 NM_020335.3(VANGL2):c.1057C>T (p.Arg353Cys) SNV Risk Factor
9052 rs267607167 GRCh37: 1:160390961-160390961
GRCh38: 1:160421171-160421171
12 VANGL2 NM_020335.3(VANGL2):c.1310T>C (p.Phe437Ser) SNV Risk Factor
9053 rs267607168 GRCh37: 1:160394912-160394912
GRCh38: 1:160425122-160425122
13 CCL2 NG_012123.1:g.2493A>G SNV Risk Factor
14207 rs1024611 GRCh37: 17:32579788-32579788
GRCh38: 17:34252769-34252769
14 FUZ NM_025129.5(FUZ):c.115C>T (p.Pro39Ser) SNV Risk Factor
31934 rs387907204 GRCh37: 19:50315990-50315990
GRCh38: 19:49812733-49812733
15 FUZ NM_025129.5(FUZ):c.1060G>T (p.Asp354Tyr) SNV Risk Factor
31935 rs139365610 GRCh37: 19:50310605-50310605
GRCh38: 19:49807348-49807348
16 FUZ NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln) SNV Risk Factor
31936 rs137955120 GRCh37: 19:50310454-50310454
GRCh38: 19:49807197-49807197
17 CELSR1 NM_001378328.1(CELSR1):c.5052_5053dup (p.Glu1685fs) MICROSAT Risk Factor
183426 rs786201015 GRCh37: 22:46805657-46805658
GRCh38: 22:46409760-46409761
18 CELSR1 NM_001378328.1(CELSR1):c.5723_5724del (p.Val1908fs) MICROSAT Risk Factor
183427 rs786201016 GRCh37: 22:46792621-46792622
GRCh38: 22:46396724-46396725
19 MTHFR NM_005957.5(MTHFR):c.1683G>A (p.Trp561Ter) SNV Risk Factor
187898 rs786204030 GRCh37: 1:11851333-11851333
GRCh38: 1:11791276-11791276
20 DLC1 NM_182643.3(DLC1):c.1432C>T (p.Pro478Ser) SNV Risk Factor
518460 rs1303000329 GRCh37: 8:12968321-12968321
GRCh38: 8:13110812-13110812
21 DLC1 NM_182643.3(DLC1):c.2377C>T (p.Gln793Ter) SNV Risk Factor
518461 rs1563593163 GRCh37: 8:12957469-12957469
GRCh38: 8:13099960-13099960
22 ITGB1 NM_002211.4(ITGB1):c.2303dup (p.Glu769fs) DUP Risk Factor
518462 rs1565818580 GRCh37: 10:33197323-33197324
GRCh38: 10:32908395-32908396
23 RAD9B NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) SNV Likely Pathogenic
694312 rs763079713 GRCh37: 12:110956546-110956546
GRCh38: 12:110518741-110518741
24 RAD9B NC_000012.11:g.110950633C>G SNV Likely Pathogenic
694313 GRCh37: 12:110950633-110950633
25 RAD9B NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) SNV Likely Pathogenic
694314 rs1593037878 GRCh37: 12:110944446-110944446
GRCh38: 12:110506641-110506641
26 RAD9B NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) SNV Likely Pathogenic
694315 rs747100389 GRCh37: 12:110960151-110960151
GRCh38: 12:110522346-110522346
27 RAD9B NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) SNV Likely Pathogenic
694398 rs372056091 GRCh37: 12:110940170-110940170
GRCh38: 12:110502365-110502365
28 RAD9B NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) SNV Likely Pathogenic
694399 rs1593083585 GRCh37: 12:110956530-110956530
GRCh38: 12:110518725-110518725
29 SCRIB NM_182706.5(SCRIB):c.1177C>T (p.Gln393Ter) SNV Likely Pathogenic
1077121 GRCh37: 8:144893172-144893172
GRCh38: 8:143811002-143811002
30 VANGL1 NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) SNV Risk Factor
Uncertain Significance
183430 rs761123443 GRCh37: 1:116206619-116206619
GRCh38: 1:115663998-115663998
31 PARD3 NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser) SNV Risk Factor
254184 rs757259023 GRCh37: 10:34400423-34400423
GRCh38: 10:34111495-34111495
32 PARD3 NM_001184785.2(PARD3):c.583-3T>C SNV Risk Factor
254189 rs557643577 GRCh37: 10:34739379-34739379
GRCh38: 10:34450451-34450451
33 PARD3 NM_001184785.2(PARD3):c.2572A>T (p.Thr858Ser) SNV Risk Factor
254186 rs762921297 GRCh37: 10:34625160-34625160
GRCh38: 10:34336232-34336232
34 VANGL1 NM_138959.3(VANGL1):c.983T>C (p.Met328Thr) SNV Risk Factor
1348 rs121918220 GRCh37: 1:116226601-116226601
GRCh38: 1:115683980-115683980
35 VANGL1 NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln) SNV Risk Factor
1347 rs121918219 GRCh37: 1:116224993-116224993
GRCh38: 1:115682372-115682372
36 AMBRA1 NM_001387011.1(AMBRA1):c.3128C>T (p.Ser1043Phe) SNV Uncertain Significance
869206 rs776724460 GRCh37: 11:46431907-46431907
GRCh38: 11:46410357-46410357
37 AMBRA1 NM_001387011.1(AMBRA1):c.2920A>G (p.Met974Val) SNV Uncertain Significance
869205 rs761423550 GRCh37: 11:46455080-46455080
GRCh38: 11:46433530-46433530
38 AMBRA1 NM_001387011.1(AMBRA1):c.2498C>T (p.Ser833Phe) SNV Uncertain Significance
869204 rs1950539302 GRCh37: 11:46515181-46515181
GRCh38: 11:46493631-46493631
39 AMBRA1 NM_001387011.1(AMBRA1):c.1090C>T (p.Leu364Phe) SNV Uncertain Significance
869203 rs768184871 GRCh37: 11:46564477-46564477
GRCh38: 11:46542927-46542927
40 AMBRA1 NM_001387011.1(AMBRA1):c.239C>T (p.Thr80Met) SNV Uncertain Significance
869202 rs1328894371 GRCh37: 11:46568802-46568802
GRCh38: 11:46547252-46547252
41 VANGL1 NM_138959.3(VANGL1):c.*5929G>A SNV Uncertain Significance
292099 rs886045149 GRCh37: 1:116239929-116239929
GRCh38: 1:115697308-115697308
42 VANGL1 NM_138959.3(VANGL1):c.*3598A>G SNV Uncertain Significance
292069 rs187286147 GRCh37: 1:116237598-116237598
GRCh38: 1:115694977-115694977
43 VANGL1 NM_138959.3(VANGL1):c.*2099G>T SNV Uncertain Significance
292046 rs886045129 GRCh37: 1:116236099-116236099
GRCh38: 1:115693478-115693478
44 VANGL1 NM_138959.3(VANGL1):c.*6474T>G SNV Uncertain Significance
292109 rs886045152 GRCh37: 1:116240474-116240474
GRCh38: 1:115697853-115697853
45 VANGL1 NM_138959.3(VANGL1):c.*89TTC[2] MICROSAT Uncertain Significance
292016 rs746915495 GRCh37: 1:116234089-116234091
GRCh38: 1:115691468-115691470
46 VANGL1 NM_138959.3(VANGL1):c.*6640G>A SNV Uncertain Significance
292111 rs746958675 GRCh37: 1:116240640-116240640
GRCh38: 1:115698019-115698019
47 VANGL1 NM_138959.3(VANGL1):c.*4840T>C SNV Uncertain Significance
292079 rs886045144 GRCh37: 1:116238840-116238840
GRCh38: 1:115696219-115696219
48 VANGL1 NM_138959.3(VANGL1):c.*3720T>C SNV Uncertain Significance
292071 rs886045139 GRCh37: 1:116237720-116237720
GRCh38: 1:115695099-115695099
49 VANGL1 NM_138959.3(VANGL1):c.*340C>G SNV Uncertain Significance
292021 rs886045121 GRCh37: 1:116234340-116234340
GRCh38: 1:115691719-115691719
50 VANGL1 NM_138959.3(VANGL1):c.*5022T>G SNV Uncertain Significance
292081 rs886045145 GRCh37: 1:116239022-116239022
GRCh38: 1:115696401-115696401

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

73 (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 rs1114167354
7 PARD3 p.Pro913Gln VAR_079848 rs781461462
8 SCRIB p.Pro454Ser VAR_067219 rs1302482009
9 SCRIB p.Arg1535Gln VAR_067220 rs782428100
10 VANGL1 p.Arg274Gln VAR_035210 rs121918219
11 VANGL1 p.Met328Thr VAR_035211 rs121918220
12 VANGL2 p.Ser84Phe VAR_067221 rs1571244916
13 VANGL2 p.Arg353Cys VAR_067222 rs267607167
14 VANGL2 p.Phe437Ser VAR_067223 rs267607168

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 153)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 DDX3Y DEAD-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 ionotropic receptor AMPA type subunit 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 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 member 6 Amnion - 4.17 0.010
15 POU2F2 POU class 2 homeobox 2 Amnion + 4.17 0.000
16 OVOL1 ovo like transcriptional repressor 1 Amnion - 4.15 0.000
17 NRTN neurturin Amnion - 4.13 0.016
18 KRT24 keratin 24 Amnion - 4.12 0.000
19 GPM6B glycoprotein M6B Amnion + 4.01 0.039
20 LHFPL3 LHFPL tetraspan subfamily member 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-oocyte fusion 1 Amnion + 3.79 0.001
29 SH3GL2 SH3 domain containing GRB2 like 2, endophilin A1 Amnion + 3.79 0.014
30 AP1S3 adaptor related protein complex 1 subunit sigma 3 Amnion - 3.78 0.000
31 ETNPPL ethanolamine-phosphate phospho-lyase Amnion - 3.73 0.005
32 ZNF428 zinc finger protein 428 Amnion + 3.70 0.002
33 KANK4 KN motif and ankyrin repeat domains 4 Amnion - 3.69 0.002
34 KCNC2 potassium voltage-gated channel subfamily C member 2 Amnion - 3.67 0.031
35 ZIC2 Zic family member 2 Amnion + 3.67 0.043
36 ZFY zinc finger protein Y-linked Amnion - 3.67 0.005
37 SLC7A2 solute carrier family 7 member 2 Amnion - 3.66 0.023
38 CD36 CD36 molecule Amnion + 3.65 0.014
39 ADSS1 adenylosuccinate synthase 1 Amnion + 3.65 0.025
40 CECR9 cat eye syndrome chromosome region, candidate 9 Amnion + 3.64 0.004
41 NXPH1 neurexophilin 1 Amnion + 3.64 0.041
42 MFAP5 microfibril associated protein 5 Amnion - 3.61 0.004
43 AUTS2 activator of transcription and developmental regulator AUTS2 Amnion + 3.59 0.012
44 KCTD7 potassium channel tetramerization domain containing 7 Amnion - 3.59 0.000
45 ASCL1 achaete-scute family bHLH transcription factor 1 Amnion + 3.59 0.014
46 MUC15 mucin 15, cell surface associated Amnion - 3.53 0.043
47 MUSTN1 musculoskeletal, embryonic nuclear protein 1 Amnion + 3.52 0.007
48 MYT1 myelin transcription factor 1 Amnion + 3.52 0.002
49 DNAJC24 DnaJ heat shock protein family (Hsp40) member C24 Amnion + 3.51 0.013
50 C2orf80 chromosome 2 open reading frame 80 Amnion + 3.50 0.012
Search GEO for disease gene expression data for Neural Tube Defects.

Pathways for Neural Tube Defects

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
6 10.82 SLC19A1 MTR MTHFR
7 10.47 SLC19A1 CCL2
8 10.36 MTR MTHFR
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:

# Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.8 VANGL2 VANGL1 CELSR1
2 tetrahydrofolate interconversion GO:0035999 9.76 MTHFR MTHFD1
3 homocysteine metabolic process GO:0050667 9.73 MTRR MTHFR
4 establishment of planar polarity GO:0001736 9.73 CELSR1 FUZ VANGL2
5 astrocyte cell migration GO:0043615 9.71 SCRIB CCL2
6 methionine metabolic process GO:0006555 9.67 MTHFR MTHFD1
7 methionine biosynthetic process GO:0009086 9.56 MTRR MTR MTHFR MTHFD1
8 neural tube closure GO:0001843 9.44 VANGL2 TBXT SCRIB MTHFR MTHFD1 FUZ
9 amino acid biosynthetic process GO:0008652 9.33 MTRR MTR MTHFD1

Sources for Neural Tube Defects

8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
27 GO
28 GTR
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
36 LifeMap
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
70 Tocris
72 UMLS via Orphanet
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