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NTD
MCID: NRL016
MIFTS: 81

Neural Tube Defects (NTD)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Neural Tube Defects

About this section

MalaCards integrated aliases for Neural Tube Defects:

Name: Neural Tube Defects 57 20 73 13 54 42 44 15
Spina Bifida 57 12 74 20 43 53 73 36 29 54 42 3 15 17 32
Neural Tube Defect 12 58 29 6 15
Spinal Dysraphism 20 43 44
Ntd 57 73 3
Neural Tube Defects, Susceptibility to 57 6
Spina Bifida, Susceptibility to 57 6
Isolated Spina Bifida 20 58
Rachischisis 20 43
Cleft Spine 20 43
Open Spine 20 43
Dysraphism 20
Ntds 20

Characteristics:

Orphanet epidemiological data:

58
neural tube defect
Prevalence: 6-9/10000 (United States),6-9/10000 (Europe),6-9/10000 (Belgium),6-9/10000 (Austria),6-9/10000 (Czech Republic),1-5/10000 (Croatia),>1/1000 (Denmark),6-9/10000 (Finland),>1/1000 (France),>1/1000 (Germany),6-9/10000 (Hungary),6-9/10000 (Ireland),1-5/10000 (Italy),>1/1000 (Malta),6-9/10000 (Netherlands),6-9/10000 (Norway),6-9/10000 (Poland),1-5/10000 (Portugal),6-9/10000 (Spain),>1/1000 (Switzerland),>1/1000 (United Kingdom),>1/1000 (China),1-5/10000 (Brazil);
isolated spina bifida
Inheritance: Multigenic/multifactorial,Not applicable; Prevalence: 1-5/10000 (Europe),1-5/10000 (France),1-5/10000 (United States),1-9/100000 (Austria),1-5/10000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Germany),1-5/10000 (Hungary),1-5/10000 (Ireland),1-5/10000 (Italy),1-5/10000 (Malta),1-5/10000 (Netherlands),1-5/10000 (Norway),1-5/10000 (Poland),1-5/10000 (Portugal),1-9/100000 (Spain),1-5/10000 (Switzerland),1-5/10000 (United Kingdom),1-5/10000 (Ukraine); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
neural tube defects:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Neural Tube Defects

About this section
MedlinePlus Genetics : 43 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 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 myelomeningocele and intellectual disability

Disease Ontology : 12 A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development.

GARD : 20 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® : 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) (Updated 05-Mar-2021)

MedlinePlus : 42 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 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.

NINDS : 53 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).

KEGG : 36 Spina bifida is among the phenotypes of the larger condition known as neural tube defects (NTDs). It is a group of congenital defects of closure of one or more vertebral arches. NTDs can occur in two major forms: spina bifida aperta, which is the open-lesion NTD, and the closed-lesion NTD, more commonly known as spina bifida occulta. The genetic studies have shown the relationships of folate-related genes. Spina bifida aperta may be referred to as either myeloschisis or myelomeningocele. Myelomeningocele is when the spinal cord protrudes from the spinal canal into a fluid-filled sac resulting from incomplete closure of the primary neural tube. Myeloschisis is when the incomplete closure of the primary neural plate results in a cleft spinal cord with the edges flush with the defect. Myelomeningocele is usually associated with a type II Chiari hindbrain malformation, ventriculomegaly, and hydrocephalus.

UniProtKB/Swiss-Prot : 73 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 : 74 Spina bifida is a birth defect in which there is incomplete closing of the spine and the membranes... more...

Sources

Related Diseases for Neural Tube Defects

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

(show top 50) (show all 784)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 34.0 MTRR MTR MTHFR MTHFD1
2 anencephaly 33.5 VANGL2 VANGL1 TBXT SLC25A32 SCRIB PARD3
3 cervical spina bifida aperta 33.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
4 lumbosacral spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
5 cervical spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
6 total spina bifida aperta 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
7 cervicothoracic spina bifida aperta 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
8 lumbosacral spina bifida aperta 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
9 thoracolumbosacral spina bifida aperta 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
10 upper thoracic spina bifida aperta 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
11 total spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
12 thoracolumbosacral spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
13 cervicothoracic spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
14 upper thoracic spina bifida cystica 32.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
15 myelomeningocele 32.8 VANGL2 VANGL1 TBXT SLC25A32 SLC19A1 SCRIB
16 down syndrome 32.2 SLC19A1 MTRR MTR MTHFR AFP
17 craniorachischisis 32.1 VANGL2 SCRIB DACT1 CELSR1
18 meningocele 32.0 VANGL1 FUZ CELSR1 AFP
19 spina bifida occulta 32.0 VANGL2 VANGL1 MTHFR MTHFD1 FUZ
20 cleft lip 31.9 SLC19A1 MTRR MTR MTHFR
21 omphalocele 31.8 SLC19A1 MTHFR MTHFD1 AFP
22 homocysteinemia 31.7 SLC19A1 MTRR MTR MTHFR H19 CCL2
23 tethered spinal cord syndrome 31.5 VANGL1 MTHFD1 AFP
24 cleft lip/palate 31.5 MTRR MTR MTHFR
25 isolated anencephaly 31.3 VANGL2 MTHFR
26 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 31.3 MTR MTHFR
27 strabismus 31.2 VANGL2 VANGL1 PARD3 CELSR1
28 homocystinuria 31.2 MTRR MTR MTHFR
29 sacral defect with anterior meningocele 31.2 VANGL1 FUZ CELSR1
30 isolated exencephaly 31.2 VANGL2 MTHFR
31 orofacial cleft 31.1 ZIC2 PAX3 MTRR MTHFR MTHFD1
32 neural tube closure defect 31.1 RAD9B PARD3 MTHFR
33 megaloblastic anemia 30.9 SLC19A1 MTRR MTR MTHFR MTHFD1
34 ocular motility disease 30.9 VANGL2 VANGL1 CELSR1
35 choline deficiency disease 30.9 MTR MTHFR MTHFD1
36 placental abruption 30.8 MTRR MTHFR MTHFD1
37 nondisjunction 30.8 MTRR MTHFR
38 methylmalonic acidemia 30.7 MTRR MTR MTHFR
39 phenylketonuria 30.7 MTRR MTR MTHFR
40 disorders of intracellular cobalamin metabolism 30.5 MTRR MTR
41 spinal cord lipoma 30.4 VANGL1 AFP
42 neural tube defects, x-linked 11.6
43 encephalocele 11.5
44 spina bifida hypospadias 11.5
45 anencephaly and spina bifida x-linked 11.5
46 kasznica carlson coppedge syndrome 11.3
47 iniencephaly 11.3
48 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 11.3
49 spondylocostal dysostosis 3, autosomal recessive 11.3
50 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.3

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



Diseases related to Neural Tube Defects
Sources

Symptoms & Phenotypes for Neural Tube Defects

About this section

Human phenotypes related to Neural Tube Defects:

58 31 (show all 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myelomeningocele 58 31 hallmark (90%) Very frequent (99-80%) HP:0002475
2 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
3 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
4 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
5 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
6 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
7 erectile dysfunction 58 31 frequent (33%) Frequent (79-30%) HP:0100639
8 hypotonia 31 frequent (33%) HP:0001252
9 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
10 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
11 abnormality of the hip bone 58 31 occasional (7.5%) Occasional (29-5%) HP:0003272
12 talipes equinovarus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001762
13 abnormality of the ribs 58 31 occasional (7.5%) Occasional (29-5%) HP:0000772
14 facial cleft 58 31 occasional (7.5%) Occasional (29-5%) HP:0002006
15 encephalocele 58 31 occasional (7.5%) Occasional (29-5%) HP:0002084
16 anencephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002323
17 abnormal vertebral segmentation and fusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0005640
18 syringomyelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003396
19 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
20 seizure 31 occasional (7.5%) HP:0001250
21 seizures 58 Occasional (29-5%)
22 muscular hypotonia 58 Frequent (79-30%)
23 malformation of the heart and great vessels 58 Occasional (29-5%)
24 multiple lipomas 31 HP:0001012
25 meningocele 58 Very frequent (99-80%)
26 spina bifida 58 Very frequent (99-80%)
27 sacral dimple 31 HP:0000960
28 spina bifida occulta 31 HP:0003298
29 lipoma 31 HP:0012032
30 absence of the sacrum 31 HP:0010305
31 urinary incontinence 31 HP:0000020
32 asymmetry of spinal facet joints 31 HP:0008482

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
hydrocephalus
spina bifida occulta
spinal dysraphism
anencephaly
spina bifida cystica
more
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 05-Mar-2021)

MGI Mouse Phenotypes related to Neural Tube Defects:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.35 CELSR1 DACT1 FUZ MTHFD1 MTHFR MTRR
2 embryo MP:0005380 10.34 CELSR1 DACT1 FUZ MTHFD1 PARD3 PAX3
3 mortality/aging MP:0010768 10.33 AFP CELSR1 DACT1 FUZ MTHFD1 MTHFR
4 cardiovascular system MP:0005385 10.24 DACT1 FUZ MTHFD1 PARD3 PAX3 SCRIB
5 limbs/digits/tail MP:0005371 10.21 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
6 nervous system MP:0003631 10.21 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
7 craniofacial MP:0005382 10.13 CELSR1 FUZ PAX3 SCRIB SLC25A32 TBXT
8 digestive/alimentary MP:0005381 10.11 DACT1 FUZ PAX3 SCRIB SLC19A1 TBXT
9 hearing/vestibular/ear MP:0005377 9.93 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
10 no phenotypic analysis MP:0003012 9.87 DACT1 MTHFR PARD3 PAX3 SCRIB TBXT
11 reproductive system MP:0005389 9.81 AFP CELSR1 DACT1 MTHFR SCRIB SLC19A1
12 pigmentation MP:0001186 9.65 FUZ PARD3 PAX3 VANGL1 ZIC2
13 respiratory system MP:0005388 9.5 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
14 skeleton MP:0005390 9.32 CELSR1 DACT1 FUZ MTHFR PAX3 SCRIB
Sources

Drugs & Therapeutics for Neural Tube Defects

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

(show top 50) (show all 109)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
2
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
3 abobotulinumtoxinA Phase 4
4 Botulinum Toxins Phase 4
5 Botulinum Toxins, Type A Phase 4
6 Cholinergic Agents Phase 4
7
Drospirenone Approved Phase 3 67392-87-4 68873
8 Mineralocorticoid Receptor Antagonists Phase 3
9 diuretics Phase 3
10 Diuretics, Potassium Sparing Phase 3
11 Calcium, Dietary Phase 3
12 Drospirenone and ethinyl estradiol combination Phase 3
13 Mineralocorticoids Phase 3
14
Calcium Nutraceutical Phase 3 7440-70-2 271
15
Acetazolamide Approved, Vet_approved Phase 2 59-66-5 1986
16
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
17
Mycophenolic acid Approved Phase 2 24280-93-1 446541
18
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
19 Anticonvulsants Phase 2
20 Carbonic Anhydrase Inhibitors Phase 2
21 Immunosuppressive Agents Phase 2
22 Antifungal Agents Phase 2
23 Antitubercular Agents Phase 2
24 Immunologic Factors Phase 2
25 Antilymphocyte Serum Phase 2
26 Antirheumatic Agents Phase 2
27 Thymoglobulin Phase 2
28 Cyclosporins Phase 2
29 Dermatologic Agents Phase 2
30 Calcineurin Inhibitors Phase 2
31 Antibiotics, Antitubercular Phase 1, Phase 2
32 Analgesics Phase 1, Phase 2
33
Cefotaxime Approved 63527-52-6 456256 5742673
34
Cefoxitin Approved 35607-66-0 441199
35
Rifampicin Approved 13292-46-1 5458213 5381226
36
Nitrous oxide Approved, Vet_approved 10024-97-2 948
37
Caffeine Approved 58-08-2 2519
38
Metformin Approved 657-24-9 14219 4091
39
Vanadium Approved, Experimental 7440-62-2
40
Pamidronate Approved 40391-99-9 4674
41
mometasone furoate Approved, Investigational, Vet_approved 83919-23-7
42
Formaldehyde Approved, Vet_approved 50-00-0 712
43
Terbutaline Approved 23031-25-6 5403
44
Atosiban Approved, Investigational 90779-69-4
45
Copper Approved, Investigational 7440-50-8 27099
46
Nicotinamide Approved, Investigational 98-92-0 936
47 Orange Approved
48
Selenium Approved, Investigational, Vet_approved 7782-49-2
49
Iodine Approved, Investigational 7553-56-2 807
50
Methylcobalamin Approved, Investigational 13422-55-4

Interventional clinical trials:

(show top 50) (show all 128)
# 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 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
6 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
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 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
9 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
10 A Phase 2 Study of PTG-300 in Non-Transfusion Dependent (NTD) and Transfusion-Dependent (TD) β-Thalassemia Subjects With Chronic Anemia Completed NCT03802201 Phase 2 PTG-300
11 An Open Label Extension Study of PTG-300 In Non-Transfusion Depenent (NTD) and Trasfusion-Dependent (TD) B-Thalassemia Subjects Completed NCT04054921 Phase 2 PTG-300
12 Phase 1/2a Trial of Placental Mesenchymal Stem Cells for Repair of Fetal Myelomeningocele Not yet recruiting NCT04652908 Phase 1, Phase 2
13 An Open-Label Multicenter Study of Augmentation Cystoplasty Using an Autologous Neo-Bladder Construct in Subjects With Spina Bifida Terminated NCT00419120 Phase 2
14 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
15 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
16 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
17 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
18 Study to Compare 2 Minimally Invasive Fetal Neural Tube Defect Repair Techniques: Repair Using Durepair Patch vs. Repair Without Durepair Patch Recruiting NCT03794011 Phase 1
19 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
20 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
21 Genetics of Neural Tubes Defects Unknown status NCT01253746
22 Anorectal Dysfunction in Patients Suffering From Spina Bifida : From Clinic to Neuro-epithelial Function Unknown status NCT02440984
23 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and Ä°nrtravenous cefotaxime
24 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
25 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
26 The Spina Bifida Research Resource Unknown status NCT00031122
27 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
28 A Peer E-mentoring Intervention to Improve Transition to Employment for Youth With Physical Disabilities Unknown status NCT02522507
29 Post-operative Use of Lite Run in a Pediatric Population With Cerebral Palsy Unknown status NCT03135145
30 Interrater and Intrarater Reliability of Infant Motor Profile: Assessing Motor Profiles of Risky Infants Unknown status NCT03188107
31 Qualitative In-depth Interviews With Women and Their Partners Concerning the Acceptability of Fetal Surgery Unknown status NCT03788122
32 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761
33 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
34 Prevalence Survey for Innovative and Intensified Disease Management (IDM) Neglected Tropical Diseases (NTDs): A Cluster Randomised Two-stage Active Case Search for IDM-NTDs in Liberia Unknown status NCT03683745
35 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697
36 Impact of Prenatal Correction of Spina Bifida Using Fetoscopy and the SAFER Technique on Long-term Neurodevelopment. Completed NCT04356703
37 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
38 Myelomeningocele Repair Randomized Trial Completed NCT00060606
39 Influence of "Espresso" on Adsorption of Orally Administrated Myo-inositol in Humans Completed NCT01244399
40 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
41 Is Neutrophil to Lymphocyte Ratio a Prognostic Factor of Sepsis in Newborns With Operated Neural Tube Defects? Completed NCT04135274
42 An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience Completed NCT03544970
43 Pilot Study of Folate Pharmacokinetics in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
44 The LETS Study: A Longitudinal Evaluation of Transition Services Completed NCT00975338
45 The Hereditary Basis of Neural Tube Defects Completed NCT00636233
46 Use of a Diurnal Indwelling Urethral Catheter to Improve Quality of Life for Patients With Spina Bifida and Spinal Cord Injury Completed NCT03573726
47 Improving Genetic Counseling for Patients With Spina Bifida Using Next Generation Sequencing Completed NCT02854150
48 Metformin in Children With Motor Deficit Completed NCT00720161 Metformin;placebo
49 Urinary Markers of Detrusor Overactivity in Spina Bifida Patients Completed NCT02852317
50 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid

Search NIH Clinical Center for Neural Tube Defects

Cochrane evidence based reviews: neural tube defects

Sources

Genetic Tests for Neural Tube Defects

About this section

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
Sources

Anatomical Context for Neural Tube Defects

About this section

MalaCards organs/tissues related to Neural Tube Defects:

40
Spinal Cord, Brain, Heart, Bone, Skin, Kidney, 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
Sources

Publications for Neural Tube Defects

About this section

Articles related to Neural Tube Defects:

(show top 50) (show all 12706)
# Title Authors PMID Year
1
Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. 61 57 6 54
10332959 1999
2
Identification of novel CELSR1 mutations in spina bifida. 61 6 57
24632739 2014
3
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 6 61 57
21840926 2011
4
VANGL2 mutations in human cranial neural-tube defects. 6 57 61
20558380 2010
5
Mutations in VANGL1 associated with neural-tube defects. 6 57 61
17409324 2007
6
The human T locus and spina bifida risk. 61 57 6
15449172 2004
7
Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury). 6 61 57
10817656 2000
8
Genetic mapping of the human homologue (T) of mouse T(Brachyury) and a search for allele association between human T and spina bifida. 57 6 61
8733136 1996
9
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 6 57
12116228 2002
10
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations. 57 61
25208524 2015
11
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. 61 6
25068569 2014
12
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects. 61 57
23326252 2012
13
Contribution of VANGL2 mutations to isolated neural tube defects. 61 57
20738329 2011
14
Current perspectives on the genetic causes of neural tube defects. 57 61
16941185 2006
15
Maternal genotype for the monocyte chemoattractant protein 1 A(-2518)G promoter polymorphism is associated with the risk of spina bifida in offspring. 61 6
16596675 2006
16
Human neural tube defects: developmental biology, epidemiology, and genetics. 61 57
15939212 2005
17
Testing for genetic associations with the PAX gene family in a spina bifida population. 61 57
12116225 2002
18
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. 57 61
12116226 2002
19
Mouse models for neural tube closure defects. 61 57
10767323 2000
20
Neural-tube defects. 57 61
10559453 1999
21
Neural tube defects and deletions of 22q11. 57 61
8957506 1996
22
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. 61 57
7550316 1995
23
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. 61 57
7747757 1994
24
Inheritance of spina bifida in Icelandic lambs. 57 61
6384355 1984
25
Spinal anomalies and neural tube defects. 57 61
6881205 1983
26
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 57 61
6214946 1982
27
Spinal dysraphia as an autosomal dominant defect in four families. 57 61
6751087 1982
28
Spina bifida cystica families x-ray examination and HLA typing. 57 61
7012775 1981
29
HLA gene and haplotype frequencies in spina bifida. Population and family studies. 57 61
605436 1977
30
Spinal dysraphism: genetic relation to neural tube malformations. 57 61
794474 1976
31
The search for a human equivalent of the mouse T-locus - negative results from a study of HL-A types in spina bifida. 61 57
1098221 1975
32
A case of meningomyelocele in a kindred with multiple cases of spondylolisthesis and spina bifida occulta. 57 61
4600010 1974
33
Spina bifida cystica. Incidence of spina bifida occulta in parents and in controls. 61 57
5337444 1967
34
THE FAMILY HISTORY OF SPINA BIFIDA CYSTICA. 57 61
14269710 1965
35
Management of the Transitional Urology Patient: the Role of the Adult Reconstructive Urologist. 61 42
33534013 2021
36
Octopus Watch Fosters Family Resilience by Enhancing Occupational Engagement for Children with Spina Bifida and/or Hydrocephalus: Pilot Study. 42 61
33182784 2020
37
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 57
22095531 2012
38
MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa. 6
18940815 2009
39
A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. 6
16352737 2005
40
Atherosclerosis in patients infected with HIV is influenced by a mutant monocyte chemoattractant protein-1 allele. 6
15466648 2004
41
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. 6
11500196 2001
42
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
43
Is there a human T/t locus? 57
6835404 1983
44
L. C. Dunn and his contribution to T-locus genetics. 57
339812 1977
45
The risk of recurrence after two children with central-nervous-system malformations. 57
4163511 1967
46
Voiding Function and Dysfunction, Bladder Physiology and Pharmacology, and Female Urology. 42
33185119 2021
47
Posterior Encephalocele. 42
33168216 2020
48
Exencephaly-anencephaly Sequence. 42
33168213 2020
49
Outcomes of patients undergoing craniotomy and decompressive craniectomy for severe traumatic brain injury with brain herniation: A retrospective study. 42
33120775 2020
50
Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse. 54 61
20329788 2010
Sources

Variations for Neural Tube Defects

About this section

ClinVar genetic disease variations for Neural Tube Defects:

6 (show top 50) (show all 262)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WIPI1 NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln) SNV Affects 626260 rs146357218 17:66425060-66425060 17:68428919-68428919
2 PARD3 NM_001184785.2(PARD3):c.2339A>G (p.Asp780Gly) SNV Pathogenic 254187 rs1114167354 10:34630624-34630624 10:34341696-34341696
3 PARD3 NC_000010.10:g.34835589_34975192del139604 Deletion Pathogenic 254190 10:34835589-34975192 10:34546661-34686264
4 RAD9B NM_001286535.2(RAD9B):c.1199dup (p.Arg401fs) Duplication Pathogenic 694421 rs748778907 12:110968402-110968403 12:110530597-110530598
5 PARD3 NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln) SNV Pathogenic 254185 rs781461462 10:34620149-34620149 10:34331221-34331221
6 RAD9B NM_001286535.2(RAD9B):c.960del (p.Ala321fs) Deletion Pathogenic 694400 12:110960045-110960045 12:110522240-110522240
7 MTHFR NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter) SNV Pathogenic 801438 rs776969786 1:11862941-11862941 1:11802884-11802884
8 MTHFR NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter) SNV risk factor 187898 rs786204030 1:11851333-11851333 1:11791276-11791276
9 VANGL1 NM_138959.3(VANGL1):c.542G>A (p.Arg181Gln) SNV risk factor 183430 rs761123443 1:116206619-116206619 1:115663998-115663998
10 CCL2 NG_012123.1:g.2493A>G SNV risk factor 14207 rs1024611 17:32579788-32579788 17:34252769-34252769
11 DLC1 NM_182643.3(DLC1):c.1432C>T (p.Pro478Ser) SNV risk factor 518460 rs1303000329 8:12968321-12968321 8:13110812-13110812
12 DLC1 NM_182643.3(DLC1):c.2377C>T (p.Gln793Ter) SNV risk factor 518461 rs1563593163 8:12957469-12957469 8:13099960-13099960
13 ITGB1 NM_002211.4(ITGB1):c.2303dup (p.Glu769fs) Duplication risk factor 518462 rs1565818580 10:33197323-33197324 10:32908395-32908396
14 PARD3 NM_001184785.2(PARD3):c.2572A>T (p.Thr858Ser) SNV risk factor 254186 rs762921297 10:34625160-34625160 10:34336232-34336232
15 PARD3 NM_001184785.2(PARD3):c.583-3T>C SNV risk factor 254189 rs557643577 10:34739379-34739379 10:34450451-34450451
16 PARD3 NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser) SNV risk factor 254184 rs757259023 10:34400423-34400423 10:34111495-34111495
17 PARD3 NM_001184785.2(PARD3):c.1046G>A (p.Arg349His) SNV risk factor 254188 rs199923448 10:34671821-34671821 10:34382893-34382893
18 RAD9B NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg) SNV Likely pathogenic 694312 rs763079713 12:110956546-110956546 12:110518741-110518741
19 RAD9B NC_000012.11:g.110950633C>G SNV Likely pathogenic 694313 12:110950633-110950633
20 RAD9B NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met) SNV Likely pathogenic 694314 rs1593037878 12:110944446-110944446 12:110506641-110506641
21 RAD9B NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly) SNV Likely pathogenic 694315 rs747100389 12:110960151-110960151 12:110522346-110522346
22 RAD9B NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly) SNV Likely pathogenic 694398 rs372056091 12:110940170-110940170 12:110502365-110502365
23 RAD9B NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu) SNV Likely pathogenic 694399 rs1593083585 12:110956530-110956530 12:110518725-110518725
24 VANGL2 NM_020335.3(VANGL2):c.1057C>T (p.Arg353Cys) SNV risk factor 9052 rs267607167 1:160390961-160390961 1:160421171-160421171
25 VANGL2 NM_020335.3(VANGL2):c.1310T>C (p.Phe437Ser) SNV risk factor 9053 rs267607168 1:160394912-160394912 1:160425122-160425122
26 FUZ NM_025129.5(FUZ):c.115C>T (p.Pro39Ser) SNV risk factor 31934 rs387907204 19:50315990-50315990 19:49812733-49812733
27 FUZ NM_025129.5(FUZ):c.1060G>T (p.Asp354Tyr) SNV risk factor 31935 rs139365610 19:50310605-50310605 19:49807348-49807348
28 FUZ NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln) SNV risk factor 31936 rs137955120 19:50310454-50310454 19:49807197-49807197
29 TBXT NM_003181.3(TBXT):c.1034+79C>T SNV risk factor 8181 rs3127334 6:166574246-166574246 6:166160758-166160758
30 CELSR1 NM_014246.3(CELSR1):c.5050_5051TG[3] (p.Glu1685fs) Microsatellite risk factor 183426 rs786201015 22:46805657-46805658 22:46409760-46409761
31 CELSR1 NM_014246.3(CELSR1):c.5719_5720TG[2] (p.Val1908fs) Microsatellite risk factor 183427 rs786201016 22:46792621-46792622 22:46396724-46396725
32 VANGL1 NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln) SNV risk factor 1347 rs121918219 1:116224993-116224993 1:115682372-115682372
33 VANGL1 NM_138959.3(VANGL1):c.983T>C (p.Met328Thr) SNV risk factor 1348 rs121918220 1:116226601-116226601 1:115683980-115683980
34 VANGL1 NM_138959.3(VANGL1):c.*3407dup Duplication Uncertain significance 292065 rs752251154 1:116237406-116237407 1:115694785-115694786
35 VANGL1 NM_138959.3(VANGL1):c.*4840T>C SNV Uncertain significance 292079 rs886045144 1:116238840-116238840 1:115696219-115696219
36 VANGL1 NM_138959.3(VANGL1):c.*89_*91TTC[2] Microsatellite Uncertain significance 292016 rs746915495 1:116234089-116234091 1:115691468-115691470
37 VANGL1 NM_138959.3(VANGL1):c.-24C>T SNV Uncertain significance 292002 rs886045118 1:116194011-116194011 1:115651390-115651390
38 VANGL1 NM_138959.3(VANGL1):c.*5639_*5640del Deletion Uncertain significance 292094 rs886045148 1:116239638-116239639 1:115697017-115697018
39 VANGL1 NM_138959.3(VANGL1):c.*932dup Duplication Uncertain significance 292031 rs886045124 1:116234931-116234932 1:115692310-115692311
40 VANGL1 NM_138959.3(VANGL1):c.*4731C>T SNV Uncertain significance 292078 rs144489409 1:116238731-116238731 1:115696110-115696110
41 VANGL1 NM_138959.3(VANGL1):c.-247_-245CGG[6] Microsatellite Uncertain significance 291996 rs886045116 1:116184596-116184597 1:115641975-115641976
42 VANGL1 NM_138959.3(VANGL1):c.*5441_*5442TC[3] Microsatellite Uncertain significance 292090 rs886045147 1:116239441-116239442 1:115696820-115696821
43 VANGL1 NM_138959.3(VANGL1):c.1045G>A (p.Glu349Lys) SNV Uncertain significance 292012 rs778860160 1:116226663-116226663 1:115684042-115684042
44 APAF1 NM_181861.2(APAF1):c.104dup (p.Leu35fs) Duplication Uncertain significance 518463 rs1565850856 12:99042236-99042237 12:98648458-98648459
45 AMBRA1 NM_017749.3(AMBRA1):c.239C>T (p.Thr80Met) SNV Uncertain significance 869202 11:46568802-46568802 11:46547252-46547252
46 AMBRA1 NM_017749.3(AMBRA1):c.820C>T (p.Leu274Phe) SNV Uncertain significance 869203 11:46564477-46564477 11:46542927-46542927
47 AMBRA1 NM_017749.3(AMBRA1):c.2228C>T (p.Ser743Phe) SNV Uncertain significance 869204 11:46515181-46515181 11:46493631-46493631
48 AMBRA1 NM_017749.3(AMBRA1):c.2650A>G (p.Met884Val) SNV Uncertain significance 869205 11:46455080-46455080 11:46433530-46433530
49 AMBRA1 NM_017749.3(AMBRA1):c.2858C>T (p.Ser953Phe) SNV Uncertain significance 869206 11:46431907-46431907 11:46410357-46410357
50 VANGL1 NM_138959.3(VANGL1):c.*5267G>T SNV Uncertain significance 292086 rs75064936 1:116239267-116239267 1:115696646-115696646

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 rs111416735
7 PARD3 p.Pro913Gln VAR_079848 rs781461462
8 SCRIB p.Pro454Ser VAR_067219 rs130248200
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
13 VANGL2 p.Arg353Cys VAR_067222 rs267607167
14 VANGL2 p.Phe437Ser VAR_067223 rs267607168

Sources

Expression for Neural Tube Defects

About this section
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-egg 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.
Sources

Pathways for Neural Tube Defects

About this section

Pathways related to Neural Tube Defects according to KEGG:

36
# 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
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.04 SLC25A32 SLC19A1 MTRR MTR MTHFR MTHFD1
2
Wnt / Hedgehog / Notch 4
11.88 VANGL1 SCRIB PAX3 AFP
3
One carbon pool by folate 36
Show member pathways
 11.61 MTRR MTR MTHFR MTHFD1
4
Folate Metabolism 1
Show member pathways
 11.43 SLC19A1 MTRR MTR MTHFR MTHFD1 CCL2
5
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.69 MTRR MTR
6
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 65
Show member pathways
 9.86 MTRR MTR
Sources

GO Terms for Neural Tube Defects

About this section

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 ZIC2 VANGL2 VANGL1 TBXT SCRIB PAX3
2 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.7 VANGL2 VANGL1 CELSR1
3 cellular amino acid biosynthetic process GO:0008652 9.58 MTRR MTR MTHFD1
4 cobalamin metabolic process GO:0009235 9.57 MTRR MTR
5 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.56 SCRIB PARD3
6 post-anal tail morphogenesis GO:0036342 9.55 TBXT SCRIB
7 apical protein localization GO:0045176 9.54 VANGL2 CELSR1
8 establishment of planar polarity GO:0001736 9.54 VANGL2 FUZ CELSR1
9 tetrahydrofolate interconversion GO:0035999 9.51 MTHFR MTHFD1
10 folic acid transport GO:0015884 9.49 SLC25A32 SLC19A1
11 homocysteine metabolic process GO:0050667 9.48 MTRR MTHFR
12 sulfur amino acid metabolic process GO:0000096 9.46 MTRR MTR
13 methionine biosynthetic process GO:0009086 9.46 MTRR MTR MTHFR MTHFD1
14 astrocyte cell migration GO:0043615 9.43 SCRIB CCL2
15 methionine metabolic process GO:0006555 9.43 MTRR MTHFR MTHFD1
16 folic acid metabolic process GO:0046655 9.35 SLC25A32 SLC19A1 MTRR MTHFR MTHFD1
17 neural tube closure GO:0001843 9.17 VANGL2 TBXT SCRIB MTHFR MTHFD1 FUZ

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

# Name GO ID Score Top Affiliating Genes
1 folic acid transmembrane transporter activity GO:0008517 8.62 SLC25A32 SLC19A1
Sources

Sources for Neural Tube Defects

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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