NTD
MCID: NRL016
MIFTS: 82

Neural Tube Defects (NTD)

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Neural Tube Defects

MalaCards integrated aliases for Neural Tube Defects:

Name: Neural Tube Defects 56 52 73 13 54 42 43 15
Spina Bifida 56 12 74 52 25 53 73 36 29 54 42 3 15 17 32
Neural Tube Defect 12 58 29 6 15
Spinal Dysraphism 52 25 29 6
Ntd 56 73 3
Neural Tube Defects, Susceptibility to 56 6
Spina Bifida, Susceptibility to 56 6
Isolated Spina Bifida 52 58
Rachischisis 52 25
Cleft Spine 52 25
Open Spine 52 25
Dysraphism 52
Ntds 52

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:

56
Inheritance:
autosomal dominant


HPO:

31
neural tube defects:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Neural Tube Defects

Genetics Home Reference : 25 Spina bifida is a condition in which the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. As a result, when the spine forms, the bones of the spinal column do not close completely around the developing nerves of the spinal cord. Part of the spinal cord may stick out through an opening in the spine, leading to permanent nerve damage. Because spina bifida is caused by abnormalities of the neural tube, it is classified as a neural tube defect. 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 lumbosacral spina bifida cystica. An important gene associated with Neural Tube Defects is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are One carbon pool by folate and Metabolism of water-soluble vitamins and cofactors. The drugs 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.

NIH Rare Diseases : 52 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 : 56 Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common NTDs are open spina bifida, also known as spina bifida cystica (SBC) or myelomeningocele, and anencephaly (206500) (Detrait et al., 2005). Spina bifida occulta (SBO), a bony defect of the spine covered by normal skin, is a mild form of spina bifida that is often asymptomatic. The term 'spinal dysraphia' refers to both SBC and SBO (Botto et al., 1999; Fineman et al., 1982). The most severe neural tube defect, craniorachischisis (CRN), leaves the neural tube open from the midbrain or rostral hindbrain to the base of the spine (summary by Robinson et al., 2012). Neural tube defects represent a complex trait with multifactorial etiology encompassing both genetic and environmental components (summary by Bartsch et al., 2012 and Lei et al., 2014). An X-linked form of spina bifida has been suggested; see 301410. See also folate-sensitive neural tube defects (601634), which are caused by genes involved in folate metabolism. (182940)

MedlinePlus : 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...

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 772)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 35.9 MTRR MTR MTHFR MTHFD1
2 lumbosacral spina bifida cystica 35.3 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
3 cervical spina bifida cystica 35.3 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
4 cervical spina bifida aperta 35.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
5 total spina bifida aperta 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
6 cervicothoracic spina bifida aperta 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
7 lumbosacral spina bifida aperta 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
8 thoracolumbosacral spina bifida aperta 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
9 upper thoracic spina bifida aperta 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
10 total spina bifida cystica 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
11 thoracolumbosacral spina bifida cystica 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
12 cervicothoracic spina bifida cystica 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
13 upper thoracic spina bifida cystica 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
14 anencephaly 34.9 ZIC2 VANGL2 VANGL1 TBXT SLC25A32 SCRIB
15 myelomeningocele 34.4 VANGL2 VANGL1 TBXT SLC25A32 SLC19A1 SCRIB
16 tethered spinal cord syndrome 34.2 VANGL1 MTHFD1 AFP
17 craniorachischisis 33.8 VANGL2 SCRIB DACT1 CELSR1
18 down syndrome 32.4 SLC19A1 MTRR MTR MTHFR AFP
19 meningocele 32.2 VANGL1 FUZ CELSR1 AFP
20 spina bifida occulta 32.2 VANGL2 VANGL1 MTHFR MTHFD1 FUZ
21 cleft lip 32.1 SLC19A1 MTRR MTR MTHFR
22 omphalocele 32.0 SLC19A1 MTHFR MTHFD1 AFP
23 vitamin b12 deficiency 31.9 MTRR MTR MTHFR
24 homocysteinemia 31.8 SLC19A1 MTRR MTR MTHFR H19 CCL2
25 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 31.7 MTR MTHFR
26 isolated anencephaly 31.4 VANGL2 MTHFR
27 homocystinuria 31.4 MTRR MTR MTHFR
28 strabismus 31.3 VANGL2 VANGL1 PARD3 CELSR1
29 orofacial cleft 31.3 ZIC2 PAX3 MTRR MTHFR MTHFD1
30 isolated exencephaly 31.3 VANGL2 MTHFR
31 ocular motility disease 31.3 VANGL2 VANGL1 CELSR1
32 choline deficiency disease 31.2 MTR MTHFR MTHFD1
33 sacral defect with anterior meningocele 31.2 VANGL1 FUZ
34 nondisjunction 31.2 MTRR MTHFR
35 megaloblastic anemia 31.1 MTRR MTR MTHFR MTHFD1
36 placental abruption 31.1 SLC19A1 MTRR MTHFR MTHFD1
37 methylmalonic acidemia 30.9 MTRR MTR MTHFR
38 phenylketonuria 30.8 MTRR MTR MTHFR
39 marfan syndrome 30.7 MTRR MTR MTHFR
40 disorders of intracellular cobalamin metabolism 30.4 MTRR MTR
41 neural tube defects, x-linked 12.8
42 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.7
43 spina bifida hypospadias 12.7
44 anencephaly and spina bifida x-linked 12.6
45 diphallus rachischisis imperforate anus 12.3
46 lipoma associated with neurospinal dysraphism 12.2
47 kasznica carlson coppedge syndrome 11.9
48 encephalocele 11.9
49 spondylocostal dysostosis 3, autosomal recessive 11.8
50 syringomyelia, noncommunicating isolated 11.7

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:

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 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
4 hydrocephalus 58 31 frequent (33%) Frequent (79-30%) HP:0000238
5 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
6 sensory neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000763
7 arnold-chiari malformation 58 31 frequent (33%) Frequent (79-30%) HP:0002308
8 erectile dysfunction 31 frequent (33%) HP:0100639
9 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
10 spasticity 58 31 occasional (7.5%) Occasional (29-5%) HP:0001257
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 malformation of the heart and great vessels 58 Occasional (29-5%)
23 erectile abnormalities 58 Frequent (79-30%)
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:

56
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

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 10.39 CELSR1 DACT1 FUZ MTHFD1 MTHFR MTRR
2 embryo MP:0005380 10.37 CELSR1 DACT1 FUZ MTHFD1 PARD3 PAX3
3 mortality/aging MP:0010768 10.36 AFP CELSR1 DACT1 FUZ MTHFD1 MTHFR
4 cardiovascular system MP:0005385 10.26 DACT1 FUZ MTHFD1 PARD3 PAX3 SCRIB
5 nervous system MP:0003631 10.25 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
6 limbs/digits/tail MP:0005371 10.23 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
7 craniofacial MP:0005382 10.15 CELSR1 FUZ PAX3 SCRIB SLC25A32 TBXT
8 digestive/alimentary MP:0005381 10.14 DACT1 FUZ PAX3 SCRIB SLC19A1 TBXT
9 integument MP:0010771 10.08 CELSR1 MTHFR PARD3 PAX3 SLC19A1 TBXT
10 hearing/vestibular/ear MP:0005377 9.97 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
11 no phenotypic analysis MP:0003012 9.91 DACT1 MTHFR PARD3 PAX3 SCRIB TBXT
12 reproductive system MP:0005389 9.91 AFP CELSR1 DACT1 MTHFR SCRIB SLC19A1
13 pigmentation MP:0001186 9.72 FUZ PARD3 PAX3 VANGL1 ZIC2
14 respiratory system MP:0005388 9.7 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
15 skeleton MP:0005390 9.65 CELSR1 DACT1 FUZ MTHFR PAX3 SCRIB
16 vision/eye MP:0005391 9.23 CELSR1 FUZ MTHFR PARD3 PAX3 SCRIB

Drugs & Therapeutics for Neural Tube Defects

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

(show top 50) (show all 169)
# 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
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
4
Mebendazole Approved, Vet_approved Phase 4 31431-39-7 4030
5
Pyrantel Approved, Vet_approved Phase 4 15686-83-6
6 Benzimidazole Experimental, Investigational Phase 4 51-17-2
7 abobotulinumtoxinA Phase 4
8 Botulinum Toxins Phase 4
9 Botulinum Toxins, Type A Phase 4
10 Anti-Infective Agents, Local Phase 4
11 Parasympatholytics Phase 4
12 Cholinergic Agents Phase 4
13 Muscarinic Antagonists Phase 4
14 Cholinergic Antagonists Phase 4
15 Neurotransmitter Agents Phase 4
16 Mandelic Acids Phase 4
17 Disinfectants Phase 4
18 Chlorhexidine gluconate Phase 4
19 Pyrantel Pamoate Phase 4
20 Neuromuscular Blocking Agents Phase 4
21
leucovorin Approved Phase 3 58-05-9 6006 143
22
Drospirenone Approved Phase 3 67392-87-4 68873
23
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
24
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 11953898
25
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
26
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 3 90-89-1 3052
27
Titanium dioxide Approved Phase 3 13463-67-7
28
Povidone Approved Phase 3 9003-39-8
29
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
30
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
31
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
32
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
33
Cobalamin Experimental Phase 3 13408-78-1 6857388
34 Vitamin B Complex Phase 3
35 Hematinics Phase 3
36 Folate Phase 3
37 Vitamin B9 Phase 3
38 Mineralocorticoids Phase 3
39 Drospirenone and ethinyl estradiol combination Phase 3
40 Mineralocorticoid Receptor Antagonists Phase 3
41 diuretics Phase 3
42 Diuretics, Potassium Sparing Phase 3
43 Calcium, Dietary Phase 3
44 Vitamin B 12 Phase 3
45 Vitamin B12 Phase 3
46 Solifenacin succinate Phase 3 242478-38-2
47 Vitamin B 6 Phase 3
48 Antirheumatic Agents Phase 3
49 Analgesics, Non-Narcotic Phase 3
50 Fibrinolytic Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 191)
# 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 Optimizing Periconceptional and Prenatal Folic Acid Supplementation Completed NCT02300948 Phase 4 PregVit® contains 1.1 mg of folic acid;PregVit-folic 5® contains 5 mg of folic acid
3 A Multi-Center, Open-Label (OL), Active-Controlled, Dose-Titration Study Evaluating the Safety, Efficacy and PK of Oxybutynin Transdermal Systems in the Treatment of Detrusor Overactivity in Pediatric Patients Completed NCT00224016 Phase 4 Oxybutynin;Oxybutynin
4 Prospective Randomized Control Trial of Post-Operative Colonization Rates of Femoral Nerve Catheters With the Use of Chlorhexidine-Impregnated Patch Completed NCT01411891 Phase 4
5 Human Soil Transmitted Helminths (STH) Resistance to Benzimidazole in School Aged Children Living in Gabon Recruiting NCT04326868 Phase 4 Benzimidazole Anthelmintic
6 AZIVAL 2: A Double-blind Cluster-randomized Placebo-controlled Study on the Safety of Integrated Treatment of Trachoma and Lymphatic Filariasis in Children and Adults With Azithromycin, Ivermectin and Albendazole Withdrawn NCT01903057 Phase 4 azithromycin;ivermectin;albendazole;placebo
7 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
8 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)
9 A Pilot Study Comparing the Effects of Botulinum Toxin A and Standard Oxybutynin Therapy as First Line Treatment for the Poorly Compliant Pediatric Neurogenic Bladder Completed NCT01716624 Phase 3 Oxybutynin;Botulinum Toxin A injection
10 A Phase 3, Open-Label, Baseline-controlled, Multi-center, Sequential Dose-Titration Study to Assess the Pharmacokinetics, Long-Term Efficacy and Safety of Solifenacin Succinate Suspension in Children From 6 Months to Less Than 5 Years of Age With Neurogenic Detrusor Overactivity Completed NCT01981954 Phase 3 Solifenacin succinate
11 A Phase 3, Open-Label, Baseline-controlled, Multicenter, Sequential Dose Titration Study to Assess the Long-Term Efficacy and Safety, and the Pharmacokinetics of Solifenacin Succinate Suspension in Patients From 5 to Less Than 18 Years of Age With Neurogenic Detrusor Overactivity (NDO) Completed NCT01565694 Phase 3 Solifenacin succinate
12 Prospective, Open-label, Single-center Clinical Study to Investigate the Red Blood Cell and Plasma Folate Concentrations During a 24-week Treatment Period With the Combination of Drospirenone 3 mg Plus Ethinyl Estradiol 0.02 mg Plus Levomefolate Calcium 0.451 mg in Mexican Women Seeking Contraception Completed NCT01902264 Phase 3 EE20/DRSP/L-5-MTHF (Beyaz, BAY98-7071)
13 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
14 Preventive Health Education for Women of Reproductive Age Completed NCT00177515 Phase 3
15 Rapid Diagnostic Tests in Association With Clinical and Laboratory Predictors for the Diagnosis of Neglected Tropical Diseases in Patients With Neurological Disorders in Rural Hospitals of Bandundu,Democratic Republic of Congo Completed NCT01589289 Phase 3
16 A Randomised Double Blind Study of the Effects of Homocysteine Lowering Therapy on Mortality and Cardiac Events in Patients Undergoing Coronary Angiography Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
17 A Cluster Randomised Trial of the Safety of Co-Administration of IDA (Ivermectin, Diethylcarbamazine and Albendazole) & Azithromycin for Integrated Treatment of Neglected Tropical Diseases Completed NCT03676140 Phase 3 Albendazole on Day 1;Ivermectin on Day 1;Diethylcarbamazine on day 1;Azithromycin on Day 1;Azithromycin on Day 8
18 Valnoctamide as a Valproate Substitute With Low Teratogenic Potential: Double-Blind Controlled Clinical Trial Completed NCT00140179 Phase 3 valnoctamide
19 Investigating the Role of Early Low-dose Aspirin in Diabetes: A Phase III Multicentre Double-blinded Placebo-controlled Randomised Trial of Low-dose Aspirin Initiated in the First Trimester of Diabetes Pregnancy Not yet recruiting NCT03574909 Phase 3 Aspirin;Placebos
20 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
21 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
22 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
23 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
24 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
25 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
26 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
27 Translating Unique Learning for Incontinence Prevention for Women Over the Age of 55 Completed NCT01599715 Phase 2
28 A Randomised, Double-blind, Placebo-controlled Trial to Assess the Safety, Pharmacokinetics, and Efficacy of Escalating Doses of Oral Ivermectin in Scabies Infected Children Weighing 5 to Less Than 15 Kilograms Not yet recruiting NCT04332068 Phase 2 Oral ivermectin;Permethrin Cream
29 An Open-Label Multicenter Study of Augmentation Cystoplasty Using an Autologous Neo-Bladder Construct in Subjects With Spina Bifida Terminated NCT00419120 Phase 2
30 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
31 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
32 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
33 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
34 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
35 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
36 Fecal Microbiota Transplant as a Treatment for Severe Motility Disorder Not yet recruiting NCT04373252 Phase 1
37 The Spina Bifida Research Resource Unknown status NCT00031122
38 Genetics of Neural Tubes Defects Unknown status NCT01253746
39 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
40 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
41 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
42 Open Spina Bifida Fetoscopic Repair Project Unknown status NCT03562286
43 Interrater and Intrarater Reliability of Infant Motor Profile: Assessing Motor Profiles of Risky Infants Unknown status NCT03188107
44 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
45 Induction of Labor at Term Versus Expectant Management Among Women With Abnormal Maternal Serum Biochemical Markers: A Randomized Controlled Trial Unknown status NCT02754635
46 Metabolic Consequences of High-Dose Folic Acid Supplementation on Kinetics of 1-Carbon Metabolism Unknown status NCT01687127
47 Echocardiography Based Algorithm for Prevention and Treatment of Spinal Hypotension- A Prospective Randomised Controlled Study Unknown status NCT03106649
48 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835
49 Investigating the Efficacy of a Top-Down Approach to Cognitive Remediation in Individuals With Affective Disorders Unknown status NCT02502604
50 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761

Search NIH Clinical Center for Neural Tube Defects

Cochrane evidence based reviews: neural tube defects

Genetic Tests for Neural Tube Defects

Genetic tests related to Neural Tube Defects:

# Genetic test Affiliating Genes
1 Neural Tube Defect 29 CCL2 FUZ TBXT VANGL1 VANGL2
2 Spina Bifida 29
3 Spinal Dysraphism 29

Anatomical Context for Neural Tube Defects

MalaCards organs/tissues related to Neural Tube Defects:

40
Spinal Cord, Brain, Testes, Skin, Bone, Heart, Colon
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Neural Tube Defects

Articles related to Neural Tube Defects:

(show top 50) (show all 12365)
# Title Authors PMID Year
1
Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. 61 54 6 56
10332959 1999
2
Identification of novel CELSR1 mutations in spina bifida. 61 6 56
24632739 2014
3
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 56 6 61
21840926 2011
4
VANGL2 mutations in human cranial neural-tube defects. 6 56 61
20558380 2010
5
Mutations in VANGL1 associated with neural-tube defects. 61 56 6
17409324 2007
6
The human T locus and spina bifida risk. 61 56 6
15449172 2004
7
Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury). 56 6 61
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. 6 61 56
8733136 1996
9
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 56 6
12116228 2002
10
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations. 56 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 56
23326252 2012
13
Contribution of VANGL2 mutations to isolated neural tube defects. 56 61
20738329 2011
14
Current perspectives on the genetic causes of neural tube defects. 61 56
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. 6 61
16596675 2006
16
Human neural tube defects: developmental biology, epidemiology, and genetics. 61 56
15939212 2005
17
Testing for genetic associations with the PAX gene family in a spina bifida population. 56 61
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. 56 61
12116226 2002
19
Mouse models for neural tube closure defects. 61 56
10767323 2000
20
Neural-tube defects. 61 56
10559453 1999
21
Neural tube defects and deletions of 22q11. 56 61
8957506 1996
22
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. 61 56
7550316 1995
23
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. 61 56
7747757 1994
24
Inheritance of spina bifida in Icelandic lambs. 56 61
6384355 1984
25
Spinal anomalies and neural tube defects. 61 56
6881205 1983
26
Spinal dysraphia as an autosomal dominant defect in four families. 56 61
6751087 1982
27
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 56 61
6214946 1982
28
Spina bifida cystica families x-ray examination and HLA typing. 56 61
7012775 1981
29
HLA gene and haplotype frequencies in spina bifida. Population and family studies. 61 56
605436 1977
30
Spinal dysraphism: genetic relation to neural tube malformations. 61 56
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 56
1098221 1975
32
A case of meningomyelocele in a kindred with multiple cases of spondylolisthesis and spina bifida occulta. 61 56
4600010 1974
33
Spina bifida cystica. Incidence of spina bifida occulta in parents and in controls. 56 61
5337444 1967
34
THE FAMILY HISTORY OF SPINA BIFIDA CYSTICA. 56 61
14269710 1965
35
Re: Early Start of Clean Intermittent Catheterization versus Expectant Management in Children with Spina Bifida. 61 42
32155366 2020
36
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 56
22095531 2012
37
MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa. 6
18940815 2009
38
A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. 6
16352737 2005
39
Atherosclerosis in patients infected with HIV is influenced by a mutant monocyte chemoattractant protein-1 allele. 6
15466648 2004
40
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
41
The 6's and 17's of developmental mutants near the major histocompatibility complex: the mouse t-complex does not have a human equivalent. 56
3041804 1988
42
Is there a human T/t locus? 56
6835404 1983
43
L. C. Dunn and his contribution to T-locus genetics. 56
339812 1977
44
The risk of recurrence after two children with central-nervous-system malformations. 56
4163511 1967
45
Individualized management of giant anterior meningoceles-case series. 42
32243391 2020
46
Standard of Care: Reasonable But Not Perfect. 42
32114775 2020
47
Prenatal Repair of Myelomeningocele and School-age Functional Outcomes. 42
31980545 2020
48
Postnatal Intracranial Findings Following Fetal Repair of Spinal Dysraphisms. 42
31939884 2020
49
Urgent need for folic acid fortification of flour and grains: response to the 2019 UK Government's public consultation. 42
31843795 2020
50
Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse. 54 61
20329788 2010

Variations for Neural Tube Defects

ClinVar genetic disease variations for Neural Tube Defects:

6 (show top 50) (show all 241) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ARSG , PRKAR1A , WIPI1 NM_017983.7(WIPI1):c.983G>A (p.Arg328Gln)SNV Affects 626260 17:66425060-66425060 17:68428919-68428919
2 RAD9B NM_001286535.2(RAD9B):c.960del (p.Ala321fs)deletion Pathogenic 694400 12:110960045-110960045 12:110522240-110522240
3 RAD9B NM_001286535.2(RAD9B):c.1199dup (p.Arg401fs)duplication Pathogenic 694421 12:110968402-110968403 12:110530597-110530598
4 CCL2 NG_012123.1:g.2493A>GSNV Pathogenic,risk factor 14207 rs1024611 17:32579788-32579788 17:34252769-34252769
5 PARD3 NM_001184785.2(PARD3):c.2729C>A (p.Pro910Gln)SNV Pathogenic 254185 rs781461462 10:34620149-34620149 10:34331221-34331221
6 PARD3 NM_001184785.2(PARD3):c.2339A>G (p.Asp780Gly)SNV Pathogenic 254187 rs1114167354 10:34630624-34630624 10:34341696-34341696
7 PARD3 NC_000010.10:g.34835589_34975192del139604deletion Pathogenic 254190 10:34835589-34975192 10:34546661-34686264
8 CREBBP NM_004380.3(CREBBP):c.6185_6195del (p.Ile2062fs)deletion Likely pathogenic 523472 rs1555471098 16:3778853-3778863 16:3728852-3728862
9 PARD3 NM_001184785.2(PARD3):c.583-3T>CSNV risk factor 254189 rs557643577 10:34739379-34739379 10:34450451-34450451
10 PARD3 NM_001184785.2(PARD3):c.2572A>T (p.Thr858Ser)SNV risk factor 254186 rs762921297 10:34625160-34625160 10:34336232-34336232
11 CELSR1 NM_014246.3(CELSR1):c.5050_5051TG[3] (p.Glu1685fs)short repeat risk factor 183426 rs786201015 22:46805657-46805658 22:46409760-46409761
12 CELSR1 NM_014246.3(CELSR1):c.5719_5720TG[2] (p.Val1908fs)short repeat risk factor 183427 rs786201016 22:46792621-46792622 22:46396724-46396725
13 MTHFR NM_005957.4(MTHFR):c.1683G>A (p.Trp561Ter)SNV risk factor 187898 rs786204030 1:11851333-11851333 1:11791276-11791276
14 PARD3 NM_001184785.2(PARD3):c.3736G>A (p.Gly1246Ser)SNV risk factor 254184 rs757259023 10:34400423-34400423 10:34111495-34111495
15 VANGL1 NM_138959.3(VANGL1):c.821G>A (p.Arg274Gln)SNV risk factor 1347 rs121918219 1:116224993-116224993 1:115682372-115682372
16 VANGL1 NM_138959.3(VANGL1):c.983T>C (p.Met328Thr)SNV risk factor 1348 rs121918220 1:116226601-116226601 1:115683980-115683980
17 TBXT NM_003181.3(TBXT):c.1034+79C>TSNV risk factor 8181 rs3127334 6:166574246-166574246 6:166160758-166160758
18 VANGL2 NM_020335.3(VANGL2):c.1057C>T (p.Arg353Cys)SNV risk factor 9052 rs267607167 1:160390961-160390961 1:160421171-160421171
19 VANGL2 NM_020335.3(VANGL2):c.1310T>C (p.Phe437Ser)SNV risk factor 9053 rs267607168 1:160394912-160394912 1:160425122-160425122
20 FUZ NM_025129.5(FUZ):c.115C>T (p.Pro39Ser)SNV risk factor 31934 rs387907204 19:50315990-50315990 19:49812733-49812733
21 FUZ NM_025129.5(FUZ):c.1060G>T (p.Asp354Tyr)SNV risk factor 31935 rs139365610 19:50310605-50310605 19:49807348-49807348
22 FUZ NM_025129.5(FUZ):c.1211G>A (p.Arg404Gln)SNV risk factor 31936 rs137955120 19:50310454-50310454 19:49807197-49807197
23 RAD9B NM_001286535.2(RAD9B):c.661G>A (p.Gly221Arg)SNV Likely pathogenic 694312 12:110956546-110956546 12:110518741-110518741
24 RAD9B NC_000012.11:g.110950633C>GSNV Likely pathogenic 694313 12:110950633-110950633
25 RAD9B NM_001286535.2(RAD9B):c.336A>G (p.Ile112Met)SNV Likely pathogenic 694314 12:110944446-110944446 12:110506641-110506641
26 RAD9B NM_001286535.2(RAD9B):c.1060A>G (p.Ser354Gly)SNV Likely pathogenic 694315 12:110960151-110960151 12:110522346-110522346
27 RAD9B NM_001286535.2(RAD9B):c.28A>G (p.Ser10Gly)SNV Likely pathogenic 694398 12:110940170-110940170 12:110502365-110502365
28 RAD9B NM_001286535.2(RAD9B):c.645T>A (p.Phe215Leu)SNV Likely pathogenic 694399 12:110956530-110956530 12:110518725-110518725
29 DLC1 NM_182643.3(DLC1):c.2377C>T (p.Gln793Ter)SNV risk factor 518461 rs1563593163 8:12957469-12957469 8:13099960-13099960
30 DLC1 NM_182643.3(DLC1):c.1432C>T (p.Pro478Ser)SNV risk factor 518460 rs1303000329 8:12968321-12968321 8:13110812-13110812
31 ITGB1 NM_002211.4(ITGB1):c.2303dup (p.Glu769fs)duplication risk factor 518462 rs1565818580 10:33197323-33197324 10:32908395-32908396
32 VANGL1 NM_138959.3(VANGL1):c.231G>A (p.Thr77=)SNV Conflicting interpretations of pathogenicity 728703 1:116206308-116206308 1:115663687-115663687
33 VANGL1 NM_138959.3(VANGL1):c.51G>A (p.Ser17=)SNV Conflicting interpretations of pathogenicity 874500 1:116194085-116194085 1:115651464-115651464
34 VANGL1 NM_138959.3(VANGL1):c.73G>A (p.Glu25Lys)SNV Conflicting interpretations of pathogenicity 874501 1:116202263-116202263 1:115659642-115659642
35 VANGL1 NM_138959.3(VANGL1):c.98C>T (p.Ser33Leu)SNV Conflicting interpretations of pathogenicity 874502 1:116202288-116202288 1:115659667-115659667
36 VANGL1 NM_138959.3(VANGL1):c.868T>C (p.Tyr290His)SNV Conflicting interpretations of pathogenicity 873609 1:116225040-116225040 1:115682419-115682419
37 VANGL1 NM_138959.3(VANGL1):c.1023C>T (p.Asn341=)SNV Conflicting interpretations of pathogenicity 873610 1:116226641-116226641 1:115684020-115684020
38 VANGL1 NM_138959.3(VANGL1):c.1050T>C (p.His350=)SNV Conflicting interpretations of pathogenicity 873611 1:116226668-116226668 1:115684047-115684047
39 VANGL1 NM_138959.3(VANGL1):c.274A>G (p.Ile92Val)SNV Conflicting interpretations of pathogenicity 445589 rs143196463 1:116206351-116206351 1:115663730-115663730
40 VANGL1 NM_138959.3(VANGL1):c.1299C>T (p.Asn433=)SNV Conflicting interpretations of pathogenicity 875534 1:116228133-116228133 1:115685512-115685512
41 VANGL1 NM_138959.3(VANGL1):c.*25A>TSNV Conflicting interpretations of pathogenicity 875537 1:116234025-116234025 1:115691404-115691404
42 VANGL1 NM_138959.3(VANGL1):c.*922C>TSNV Conflicting interpretations of pathogenicity 873746 1:116234922-116234922 1:115692301-115692301
43 VANGL1 NM_138959.3(VANGL1):c.*3150T>CSNV Conflicting interpretations of pathogenicity 876735 1:116237150-116237150 1:115694529-115694529
44 VANGL1 NM_138959.3(VANGL1):c.*3409T>CSNV Conflicting interpretations of pathogenicity 874853 1:116237409-116237409 1:115694788-115694788
45 VANGL1 NM_138959.3(VANGL1):c.*3559G>ASNV Conflicting interpretations of pathogenicity 875786 1:116237559-116237559 1:115694938-115694938
46 VANGL1 NM_138959.3(VANGL1):c.*3608C>TSNV Conflicting interpretations of pathogenicity 875787 1:116237608-116237608 1:115694987-115694987
47 VANGL1 NM_138959.3(VANGL1):c.*3742A>TSNV Conflicting interpretations of pathogenicity 873966 1:116237742-116237742 1:115695121-115695121
48 VANGL1 NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp)SNV Conflicting interpretations of pathogenicity 167818 rs142594314 1:116206600-116206600 1:115663979-115663979
49 VANGL1 NM_138959.3(VANGL1):c.812+9C>TSNV Conflicting interpretations of pathogenicity 292009 rs370321176 1:116206898-116206898 1:115664277-115664277
50 VANGL1 NM_138959.3(VANGL1):c.*1545A>GSNV Conflicting interpretations of pathogenicity 292039 rs117337677 1:116235545-116235545 1:115692924-115692924

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

Expression for Neural Tube Defects

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

Pathways for Neural Tube Defects

Pathways related to Neural Tube Defects according to KEGG:

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
Show member pathways
12.04 SLC25A32 SLC19A1 MTRR MTR MTHFR MTHFD1
2 11.88 VANGL1 SCRIB PAX3 AFP
3
Show member pathways
11.61 MTRR MTR MTHFR MTHFD1
4
Show member pathways
11.43 SLC19A1 MTRR MTR MTHFR MTHFD1 CCL2
5 10.69 MTRR MTR
6
Show member pathways
9.86 MTRR MTR

GO Terms for Neural Tube Defects

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.97 ZIC2 VANGL2 VANGL1 TBXT SCRIB PAX3
2 anterior/posterior pattern specification GO:0009952 9.79 VANGL2 TBXT CELSR1
3 wound healing GO:0042060 9.79 VANGL2 SCRIB CELSR1
4 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.77 VANGL2 VANGL1 CELSR1
5 cellular amino acid biosynthetic process GO:0008652 9.71 MTRR MTR MTHFD1
6 hair follicle development GO:0001942 9.69 VANGL2 FUZ CELSR1
7 cobalamin metabolic process GO:0009235 9.62 MTRR MTR
8 apical protein localization GO:0045176 9.61 VANGL2 CELSR1
9 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.61 VANGL2 SCRIB PARD3
10 planar cell polarity pathway involved in neural tube closure GO:0090179 9.59 VANGL2 CELSR1
11 tetrahydrofolate interconversion GO:0035999 9.58 MTHFR MTHFD1
12 homocysteine metabolic process GO:0050667 9.58 MTRR MTHFR
13 post-anal tail morphogenesis GO:0036342 9.58 VANGL2 TBXT SCRIB
14 folic acid transport GO:0015884 9.57 SLC25A32 SLC19A1
15 astrocyte cell migration GO:0043615 9.56 SCRIB CCL2
16 sulfur amino acid metabolic process GO:0000096 9.55 MTRR MTR
17 establishment of planar polarity GO:0001736 9.54 VANGL2 FUZ CELSR1
18 establishment of body hair planar orientation GO:0048105 9.52 VANGL2 CELSR1
19 lateral sprouting involved in lung morphogenesis GO:0060490 9.49 VANGL2 CELSR1
20 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.48 VANGL2 CELSR1
21 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.46 VANGL2 CELSR1
22 methionine biosynthetic process GO:0009086 9.46 MTRR MTR MTHFR MTHFD1
23 methionine metabolic process GO:0006555 9.43 MTRR MTHFR MTHFD1
24 folic acid metabolic process GO:0046655 9.35 SLC25A32 SLC19A1 MTRR MTHFR MTHFD1
25 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 for Neural Tube Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....