NTD
MCID: NRL016
MIFTS: 83

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 57 53 74 13 55 43 44 15
Spina Bifida 57 12 75 53 25 54 74 37 29 55 43 3 15 17 33
Neural Tube Defect 12 59 29 6 15
Spinal Dysraphism 53 25 29 6 44
Ntd 57 74 3
Neural Tube Defects, Susceptibility to 57 6
Spina Bifida, Susceptibility to 57 6
Isolated Spina Bifida 53 59
Rachischisis 53 25
Cleft Spine 53 25
Open Spine 53 25
Dysraphism 53
Ntds 53

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal dominant


HPO:

32
neural tube defects:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080016 DOID:0080074
OMIM 57 182940
KEGG 37 H00262
ICD10 33 Q05 Q05.4 Q05.9
MESH via Orphanet 45 D016135
UMLS via Orphanet 73 C0080178
Orphanet 59 ORPHA3388 ORPHA823

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 affected. 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 nerves do 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 hydrocephalus

NIH Rare Diseases : 53 Neural tube defects (NTDs) refers to a group of abnormalities resulting from abnormal development of the brain, spine and/or spinal column. During the development of an affected embryo, a structure called the neural tube does not close completely as it should, resulting in a hole somewhere along the spinal column. Specific examples of types of NTDs include spina bifida, anencephaly, and encephalocele. Symptoms vary depending on the type of NTD present but often include various forms of physical and/or mental disabilities. Many affected individuals do not survive. The exact cause of NTDs is not known but is thought to involve both genetic and nongenetic factors. Getting enough folic acid before and during pregnancy can reduce the risk of some NTDs. Treatment depends on the severity and type of defect and may include surgery.

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)

MedlinePlus : 43 Neural tube defects are birth defects of the brain, spine, or spinal cord. They happen in the first month of pregnancy, often before a woman even knows that she is pregnant. The two most common neural tube defects are spina bifida and anencephaly. In spina bifida, the fetal spinal column doesn't close completely. There is usually nerve damage that causes at least some paralysis of the legs. In anencephaly, most of the brain and skull do not develop. Babies with anencephaly are usually either stillborn or die shortly after birth. Another type of defect, Chiari malformation, causes the brain tissue to extend into the spinal canal. The exact causes of neural tube defects aren't known. You're at greater risk of having an infant with a neural tube defect if you Have obesity Have poorly controlled diabetes Take certain antiseizure medicines Getting enough folic acid, a type of B vitamin, before and during pregnancy prevents most neural tube defects. Neural tube defects are usually diagnosed before the infant is born, through lab or imaging tests. There is no cure for neural tube defects. The nerve damage and loss of function that are present at birth are usually permanent. However, a variety of treatments can sometimes prevent further damage and help with complications. NIH: National Institute of Child Health and Human Development

CDC : 3 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 : 54 Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

KEGG : 37
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 : 74 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 : 75 Spina bifida is a birth defect in which there is incomplete closing of the spine and membranes around... more...

Related Diseases for Neural Tube Defects

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

(show top 50) (show all 765)
# Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 36.0 MTRR MTR MTHFR MTHFD1
2 lumbosacral spina bifida cystica 35.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
3 cervical spina bifida cystica 35.2 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
4 cervical spina bifida aperta 35.1 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
5 total spina bifida aperta 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
6 cervicothoracic spina bifida aperta 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
7 lumbosacral spina bifida aperta 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
8 thoracolumbosacral spina bifida aperta 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
9 upper thoracic spina bifida aperta 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
10 total spina bifida cystica 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
11 thoracolumbosacral spina bifida cystica 35.0 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
12 cervicothoracic spina bifida cystica 34.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
13 upper thoracic spina bifida cystica 34.9 VANGL2 VANGL1 TBXT MTHFR MTHFD1 FUZ
14 anencephaly 34.1 VANGL2 VANGL1 TBXT SCRIB PARD3 MTRR
15 craniorachischisis 33.8 VANGL2 SCRIB DACT1 CELSR1
16 myelomeningocele 33.6 VANGL2 VANGL1 TBXT SLC19A1 SCRIB PAX3
17 spina bifida occulta 32.0 ZIC1 MTHFR
18 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 31.9 MTR MTHFR
19 omphalocele 31.9 SLC19A1 MTHFD1 AFP
20 homocystinuria 31.5 MTRR MTR MTHFR
21 homocysteinemia 31.4 SLC19A1 MTRR MTR MTHFR H19
22 nondisjunction 31.4 MTRR MTHFR
23 patau syndrome 31.2 ZIC2 AFP
24 transcobalamin ii deficiency 31.2 MTRR MTR MTHFR
25 megaloblastic anemia 31.1 MTRR MTR MTHFR MTHFD1
26 vascular disease 31.0 MTRR MTR MTHFR CCL2
27 disorders of intracellular cobalamin metabolism 30.8 MTRR MTR
28 neural tube defects, x-linked 12.8
29 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.7
30 anencephaly and spina bifida x-linked 12.6
31 spina bifida hypospadias 12.6
32 diphallus rachischisis imperforate anus 12.2
33 lipoma associated with neurospinal dysraphism 12.2
34 tethered spinal cord syndrome 12.1
35 kasznica carlson coppedge syndrome 12.0
36 encephalocele 11.9
37 spondylocostal dysostosis 3, autosomal recessive 11.8
38 iniencephaly 11.7
39 syringomyelia, noncommunicating isolated 11.7
40 chiari malformation 11.6
41 meckel syndrome, type 1 11.6
42 schisis association 11.6
43 limb-body wall complex 11.6
44 fryns microphthalmia syndrome 11.6
45 parietal foramina 11.6
46 klippel-feil syndrome 11.6
47 meningoencephalocele 11.6
48 mthfr gene variant 11.6
49 male pseudohermaphroditism intellectual disability syndrome, verloes type 11.5
50 filarial elephantiasis 11.5

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:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 myelomeningocele 59 32 hallmark (90%) Very frequent (99-80%) HP:0002475
2 hydrocephalus 59 32 frequent (33%) Frequent (79-30%) HP:0000238
3 intellectual disability 59 32 frequent (33%) Frequent (79-30%) HP:0001249
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
6 sensory neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000763
7 erectile abnormalities 59 32 frequent (33%) Frequent (79-30%) HP:0100639
8 arnold-chiari malformation 59 32 frequent (33%) Frequent (79-30%) HP:0002308
9 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
10 spasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0001257
11 scoliosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002650
12 abnormality of the hip bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0003272
13 talipes equinovarus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001762
14 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
15 encephalocele 59 32 occasional (7.5%) Occasional (29-5%) HP:0002084
16 anencephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002323
17 facial cleft 59 32 occasional (7.5%) Occasional (29-5%) HP:0002006
18 abnormal vertebral segmentation and fusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0005640
19 syringomyelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003396
20 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
21 malformation of the heart and great vessels 59 Occasional (29-5%)
22 multiple lipomas 32 HP:0001012
23 meningocele 59 Very frequent (99-80%)
24 spina bifida 59 Very frequent (99-80%)
25 spina bifida occulta 32 HP:0003298
26 lipoma 32 HP:0012032
27 urinary incontinence 32 HP:0000020
28 absence of the sacrum 32 HP:0010305
29 asymmetry of spinal facet joints 32 HP:0008482

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
hydrocephalus
spina bifida occulta
anencephaly
spinal dysraphism
spina bifida cystica
more
Skin Nails Hair Skin:
sacral dimple
sacral hairy patch

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

Genitourinary Bladder:
urinary incontinence

Clinical features from OMIM:

182940

MGI Mouse Phenotypes related to Neural Tube Defects:

46 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.43 CELSR1 DACT1 FUZ MTHFD1 MTHFR MTRR
2 mortality/aging MP:0010768 10.39 AFP CELSR1 DACT1 FUZ MTHFD1 MTHFR
3 embryo MP:0005380 10.35 CELSR1 DACT1 FUZ MTHFD1 PARD3 PAX3
4 cardiovascular system MP:0005385 10.31 DACT1 FUZ MTHFD1 PARD3 PAX3 PDGFRA
5 limbs/digits/tail MP:0005371 10.29 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
6 nervous system MP:0003631 10.28 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
7 homeostasis/metabolism MP:0005376 10.24 AFP FUZ MTHFD1 MTHFR MTR MTRR
8 digestive/alimentary MP:0005381 10.2 DACT1 FUZ PAX3 PDGFRA SCRIB SLC19A1
9 craniofacial MP:0005382 10.16 CELSR1 FUZ PAX3 PDGFRA SCRIB TBXT
10 no phenotypic analysis MP:0003012 10.01 DACT1 MTHFR PARD3 PAX3 PDGFRA SCRIB
11 hearing/vestibular/ear MP:0005377 9.99 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
12 reproductive system MP:0005389 9.96 AFP CELSR1 DACT1 MTHFR PDGFRA SCRIB
13 renal/urinary system MP:0005367 9.87 DACT1 PAX3 PDGFRA SCRIB SLC19A1 TBXT
14 respiratory system MP:0005388 9.7 CELSR1 FUZ PAX3 PDGFRA SCRIB VANGL1
15 skeleton MP:0005390 9.7 CELSR1 DACT1 FUZ MTHFR PAX3 PDGFRA
16 pigmentation MP:0001186 9.67 FUZ PAX3 PDGFRA ZIC2
17 vision/eye MP:0005391 9.23 CELSR1 FUZ MTHFR PARD3 PAX3 SCRIB

Drugs & Therapeutics for Neural Tube Defects

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

(show top 50) (show all 180)
# 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 Neuromuscular Agents Phase 4
4 abobotulinumtoxinA Phase 4
5 Acetylcholine Release Inhibitors Phase 4
6 Botulinum Toxins Phase 4
7 Botulinum Toxins, Type A Phase 4
8 Anti-Infective Agents, Local Phase 4
9 Neurotransmitter Agents Phase 4
10 Parasympatholytics Phase 4
11 Cholinergic Agents Phase 4
12 Muscarinic Antagonists Phase 4
13 Renal Agents Phase 4
14 Mandelic Acids Phase 4
15 Cholinergic Antagonists Phase 4
16 Anti-Infective Agents, Urinary Phase 4
17 Autonomic Agents Phase 4
18 Disinfectants Phase 4
19 Chlorhexidine gluconate Phase 4
20
Valproic acid Approved, Investigational Phase 3 99-66-1 3121
21
Diethylcarbamazine Approved, Investigational, Vet_approved Phase 3 90-89-1 3052
22
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
23
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
24
Iron Approved, Experimental Phase 3 15438-31-0, 7439-89-6 23925 27284
25
Iodine Approved, Investigational Phase 3 7553-56-2 807
26 Orange Approved Phase 3
27
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
28
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
29
Copper Approved, Investigational Phase 3 7440-50-8 27099
30
Zinc Approved, Investigational Phase 3 7440-66-6 32051
31
Nicotinamide Approved, Investigational Phase 3 98-92-0 936
32
Titanium dioxide Approved Phase 3 13463-67-7
33
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
34
Povidone Approved Phase 3 9003-39-8
35
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
36
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
37
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
38
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 11103-57-4, 68-26-8 9904001 445354
39
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
40
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
41
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8, 70-16-6 1130
42
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
43
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
44
Cobalamin Experimental Phase 3 13408-78-1 6857388
45 Tocotrienol Investigational Phase 3 6829-55-6
46 Hematinics Phase 3
47 Drospirenone and ethinyl estradiol combination Phase 3
48 Calcium, Dietary Phase 3
49 Solifenacin succinate Phase 3 242478-38-2
50 Tetrahydrofolates Phase 3

Interventional clinical trials:

(show top 50) (show all 166)
# 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 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
6 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
7 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)
8 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
9 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
10 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
11 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)
12 Oral Cleft Prevention Program Completed NCT00397917 Phase 3 Folic acid: 4 mg versus 0.4 mg per day
13 Preventive Health Education for Women of Reproductive Age Completed NCT00177515 Phase 3
14 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
15 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
16 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
17 Valnoctamide as a Valproate Substitute With Low Teratogenic Potential: Double-Blind Controlled Clinical Trial Completed NCT00140179 Phase 3 valnoctamide
18 Impact of Pre-Pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
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 Translating Unique Learning for Incontinence Prevention for Women Over the Age of 55 Completed NCT01599715 Phase 2
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) Active, not recruiting NCT02748356 Phase 2 Lactobacillus
27 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)" Active, not recruiting NCT02748317 Phase 2 Lactobacillus rhamnosus GG
28 An Open-Label Multicenter Study of Augmentation Cystoplasty Using an Autologous Neo-Bladder Construct in Subjects With Spina Bifida Terminated NCT00419120 Phase 2
29 Probiotics Improvement of Gastrointestinal and Genitourinary Health in Girls With Spina Bifida (H-23245) Withdrawn NCT00767988 Phase 2
30 Bacteriuria Eradication Through Probiotics Unknown status NCT00717600 Phase 1
31 Does Mid-Gestation Placental Function Assessment Reduce Psychological Distress in Women With High-Risk Pregnancies? Unknown status NCT00546026 Phase 1
32 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
33 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
34 Minimally Invasive Fetal Neural Tube Defect Repair Study Active, not recruiting NCT02230072 Phase 1
35 The Spina Bifida Research Resource Unknown status NCT00031122
36 Genetics of Neural Tubes Defects Unknown status NCT01253746
37 Powder Topical Rifampicin on Reducing Infections After Neural Tube Defect Surgery in Infants Unknown status NCT03198819 Local Rifampisin and İnrtravenous cefotaxime
38 Incidence of Pregnancies and Births With Spina Bifida in Denmark in 2008-2014 Unknown status NCT02685813
39 Assessment of Functional Independence and Quality of Life in Italian Population of Adolescents With Spina Bifid Unknown status NCT00966927
40 The LETS Study: A Longitudinal Evaluation of Transition Services Unknown status NCT00975338
41 Induction of Labor at Term Versus Expectant Management Among Women With Abnormal Maternal Serum Biochemical Markers: A Randomized Controlled Trial Unknown status NCT02754635
42 Echocardiography Based Algorithm for Prevention and Treatment of Spinal Hypotension- A Prospective Randomised Controlled Study Unknown status NCT03106649
43 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835
44 Changes in the Cuff Pressure in Infants in the Absence of Nitrous Oxide Unknown status NCT03088761
45 Investigating the Efficacy of a Top-Down Approach to Cognitive Remediation in Individuals With Affective Disorders Unknown status NCT02502604
46 Are IQs Low in Offspring of Euthyroid Women With Low T4? Unknown status NCT00147433
47 Medication Safety and Contraceptive Counseling for Reproductive Aged Women With Psychiatric Conditions Unknown status NCT02292056
48 NSC Assistive Technology Research: Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
49 Using Contact Free Sensor to Analyse Cardio-respiratory Patterns in Order to Early Detect the Clinical Complications in the Hemodialysis Patients. Unknown status NCT02832518
50 Fetal Spina Bifida -Prenatal Course and Outcome in 103 Cases A Single Center Experience. Completed NCT01100697

Search NIH Clinical Center for Neural Tube Defects

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Folic acid

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:

41
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 12022)
# Title Authors PMID Year
1
Analysis of select folate pathway genes, PAX3, and human T in a Midwestern neural tube defect population. 9 38 8 71
10332959 1999
2
Identification of novel CELSR1 mutations in spina bifida. 38 8 71
24632739 2014
3
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. 38 8 71
21840926 2011
4
VANGL2 mutations in human cranial neural-tube defects. 38 8 71
20558380 2010
5
Mutations in VANGL1 associated with neural-tube defects. 38 8 71
17409324 2007
6
The human T locus and spina bifida risk. 38 8 71
15449172 2004
7
Association between historically high frequencies of neural tube defects and the human T homologue of mouse T (Brachyury). 38 8 71
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. 38 8 71
8733136 1996
9
T locus shows no evidence for linkage disequilibrium or mutation in American Caucasian neural tube defect families. 8 71
12116228 2002
10
Expanding the mutational spectrum associated to neural tube defects: literature revision and description of novel VANGL1 mutations. 38 8
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. 38 71
25068569 2014
12
Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects. 38 8
23326252 2012
13
Contribution of VANGL2 mutations to isolated neural tube defects. 38 8
20738329 2011
14
Current perspectives on the genetic causes of neural tube defects. 38 8
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. 38 71
16596675 2006
16
Human neural tube defects: developmental biology, epidemiology, and genetics. 38 8
15939212 2005
17
Testing for genetic associations with the PAX gene family in a spina bifida population. 38 8
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. 38 8
12116226 2002
19
Mouse models for neural tube closure defects. 38 8
10767323 2000
20
Neural-tube defects. 38 8
10559453 1999
21
Neural tube defects and deletions of 22q11. 38 8
8957506 1996
22
Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice. 38 8
7550316 1995
23
Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region. 38 8
7747757 1994
24
Inheritance of spina bifida in Icelandic lambs. 38 8
6384355 1984
25
Spinal anomalies and neural tube defects. 38 8
6881205 1983
26
Spinal dysraphia as an autosomal dominant defect in four families. 38 8
6751087 1982
27
A five-generation family with sacral agenesis and spina bifida: possible similarities with the mouse T-locus. 38 8
6214946 1982
28
Spina bifida cystica families x-ray examination and HLA typing. 38 8
7012775 1981
29
HLA gene and haplotype frequencies in spina bifida. Population and family studies. 38 8
605436 1977
30
Spinal dysraphism: genetic relation to neural tube malformations. 38 8
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. 38 8
1098221 1975
32
A case of meningomyelocele in a kindred with multiple cases of spondylolisthesis and spina bifida occulta. 38 8
4600010 1974
33
Spina bifida cystica. Incidence of spina bifida occulta in parents and in controls. 38 8
5337444 1967
34
THE FAMILY HISTORY OF SPINA BIFIDA CYSTICA. 38 8
14269710 1965
35
Clomiphene citrate and neural tube defects: a meta-analysis of controlled observational studies. 38 17
31006176 2019
36
Randomized Clinical Trial Using Sterile Single Use and Reused Polyvinylchloride Catheters for Intermittent Catheterization with a Clean Technique in Spina Bifida Cases: Short-Term Urinary Tract Infection Outcomes. 38 17
30916625 2019
37
Peer support interventions for individuals with acquired brain injury, cerebral palsy, and spina bifida: a systematic review. 38 17
31068184 2019
38
Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. 8
22095531 2012
39
MCP-1 promoter variant -362C associated with protection from pulmonary tuberculosis in Ghana, West Africa. 71
18940815 2009
40
A functional promoter polymorphism in monocyte chemoattractant protein-1 is associated with increased susceptibility to pulmonary tuberculosis. 71
16352737 2005
41
Atherosclerosis in patients infected with HIV is influenced by a mutant monocyte chemoattractant protein-1 allele. 71
15466648 2004
42
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. 71
11500196 2001
43
The 6's and 17's of developmental mutants near the major histocompatibility complex: the mouse t-complex does not have a human equivalent. 8
3041804 1988
44
Is there a human T/t locus? 8
6835404 1983
45
L. C. Dunn and his contribution to T-locus genetics. 8
339812 1977
46
The risk of recurrence after two children with central-nervous-system malformations. 8
4163511 1967
47
Predictive value of posterior cranial fossa morphology in the decompression of Chiari malformation type I: A retrospective observational study. 17
31083202 2019
48
Rare association of cyclopia with craniospinal rachischisis. 17
30971556 2019
49
Chiari malformations: principles of diagnosis and management. 17
30962183 2019
50
Molecular and cellular mechanisms underlying neural tube defects in the loop-tail mutant mouse. 9 38
20329788 2010

Variations for Neural Tube Defects

ClinVar genetic disease variations for Neural Tube Defects:

6 (show top 50) (show all 154)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CCL2 NG_012123.1: g.2493A> G single nucleotide variant Pathogenic,risk factor rs1024611 17:32579788-32579788 17:34252769-34252769
2 PARD3 NM_019619.4(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 10:34620149-34620149 10:34331221-34331221
3 PARD3 NM_019619.4(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 10:34630624-34630624 10:34341696-34341696
4 PARD3 NC_000010.10: g.34835589_34975192del139604 deletion Pathogenic 10:34835589-34975192 10:34546661-34686264
5 PARD3 NM_019619.4(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 10:34739379-34739379 10:34450451-34450451
6 PARD3 NM_019619.4(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 10:34625160-34625160 10:34336232-34336232
7 CELSR1 NM_014246.3(CELSR1): c.5050_5051TG[3] (p.Glu1685fs) short repeat risk factor rs786201015 22:46805658-46805659 22:46409761-46409762
8 CELSR1 NM_014246.3(CELSR1): c.5719_5720TG[2] (p.Val1908fs) short repeat risk factor rs786201016 22:46792621-46792622 22:46396724-46396725
9 VANGL1 NM_138959.3(VANGL1): c.542G> A (p.Arg181Gln) single nucleotide variant risk factor rs761123443 1:116206619-116206619 1:115663998-115663998
10 MTHFR NM_005957.4(MTHFR): c.1683G> A (p.Trp561Ter) single nucleotide variant risk factor rs786204030 1:11851333-11851333 1:11791276-11791276
11 PARD3 NM_019619.4(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 10:34400423-34400423 10:34111495-34111495
12 FUZ NM_025129.5(FUZ): c.115C> T (p.Pro39Ser) single nucleotide variant risk factor rs387907204 19:50315990-50315990 19:49812733-49812733
13 FUZ NM_025129.5(FUZ): c.1060G> T (p.Asp354Tyr) single nucleotide variant risk factor rs139365610 19:50310605-50310605 19:49807348-49807348
14 FUZ NM_025129.5(FUZ): c.1211G> A (p.Arg404Gln) single nucleotide variant risk factor rs137955120 19:50310454-50310454 19:49807197-49807197
15 DLC1 NM_182643.3(DLC1): c.2377C> T (p.Gln793Ter) single nucleotide variant risk factor 8:12957469-12957469 8:13099960-13099960
16 DLC1 NM_182643.3(DLC1): c.1432C> T (p.Pro478Ser) single nucleotide variant risk factor 8:12968321-12968321 8:13110812-13110812
17 ITGB1 NM_002211.4(ITGB1): c.2303dup (p.Glu769fs) duplication risk factor 10:33197323-33197324 10:32908395-32908396
18 CREBBP NM_001079846.1(CREBBP): c.6071_6081del (p.Ile2024fs) deletion Likely pathogenic rs1555471098 16:3778853-3778863 16:3728852-3728862
19 VANGL1 NM_138959.3(VANGL1): c.821G> A (p.Arg274Gln) single nucleotide variant risk factor rs121918219 1:116224993-116224993 1:115682372-115682372
20 VANGL1 NM_138959.3(VANGL1): c.983T> C (p.Met328Thr) single nucleotide variant risk factor rs121918220 1:116226601-116226601 1:115683980-115683980
21 TBXT NM_003181.3(TBXT): c.1034+79C> T single nucleotide variant risk factor rs3127334 6:166574246-166574246 6:166160758-166160758
22 VANGL2 NM_020335.3(VANGL2): c.1057C> T (p.Arg353Cys) single nucleotide variant risk factor rs267607167 1:160390961-160390961 1:160421171-160421171
23 VANGL2 NM_020335.3(VANGL2): c.1310T> C (p.Phe437Ser) single nucleotide variant risk factor rs267607168 1:160394912-160394912 1:160425122-160425122
24 APAF1 NM_181861.2(APAF1): c.104dup (p.Leu35fs) duplication Uncertain significance 12:99042236-99042237 12:98648458-98648459
25 PARD3 NM_019619.4(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant Uncertain significance rs199923448 10:34671821-34671821 10:34382893-34382893
26 VANGL1 NM_138959.3(VANGL1): c.765C> T (p.Val255=) single nucleotide variant Uncertain significance rs368722418 1:116206842-116206842 1:115664221-115664221
27 VANGL1 NM_138959.3(VANGL1): c.812+9C> T single nucleotide variant Uncertain significance rs370321176 1:116206898-116206898 1:115664277-115664277
28 VANGL1 NM_138959.3(VANGL1): c.*301G> C single nucleotide variant Uncertain significance rs193075321 1:116234301-116234301 1:115691680-115691680
29 VANGL1 NM_138959.3(VANGL1): c.*483A> G single nucleotide variant Uncertain significance rs886045122 1:116234483-116234483 1:115691862-115691862
30 VANGL1 NM_138959.3(VANGL1): c.*929G> A single nucleotide variant Uncertain significance rs886045123 1:116234929-116234929 1:115692308-115692308
31 VANGL1 NM_138959.3(VANGL1): c.*2695C> A single nucleotide variant Uncertain significance rs540290490 1:116236695-116236695 1:115694074-115694074
32 VANGL1 NM_138959.3(VANGL1): c.*2865A> G single nucleotide variant Uncertain significance rs114921471 1:116236865-116236865 1:115694244-115694244
33 VANGL1 NM_138959.3(VANGL1): c.*2992G> A single nucleotide variant Uncertain significance rs886045135 1:116236992-116236992 1:115694371-115694371
34 VANGL1 NM_138959.3(VANGL1): c.*3289A> G single nucleotide variant Uncertain significance rs886045136 1:116237289-116237289 1:115694668-115694668
35 VANGL1 NM_138959.3(VANGL1): c.*1545A> G single nucleotide variant Uncertain significance rs117337677 1:116235545-116235545 1:115692924-115692924
36 VANGL1 NM_138959.3(VANGL1): c.*2107A> G single nucleotide variant Uncertain significance rs886045130 1:116236107-116236107 1:115693486-115693486
37 VANGL1 NM_138959.3(VANGL1): c.*5022T> G single nucleotide variant Uncertain significance rs886045145 1:116239022-116239022 1:115696401-115696401
38 VANGL1 NM_138959.3(VANGL1): c.*5413A> C single nucleotide variant Uncertain significance rs886045146 1:116239413-116239413 1:115696792-115696792
39 VANGL1 NM_138959.3(VANGL1): c.-145G> T single nucleotide variant Uncertain significance rs559438343 1:116184700-116184700 1:115642079-115642079
40 VANGL1 NM_138959.3(VANGL1): c.-24C> T single nucleotide variant Uncertain significance rs886045118 1:116194011-116194011 1:115651390-115651390
41 VANGL1 NM_138959.3(VANGL1): c.114C> T (p.Asp38=) single nucleotide variant Uncertain significance rs201840785 1:116202304-116202304 1:115659683-115659683
42 VANGL1 NM_138959.3(VANGL1): c.*634T> C single nucleotide variant Uncertain significance rs546423374 1:116234634-116234634 1:115692013-115692013
43 VANGL1 NM_138959.3(VANGL1): c.*1043A> G single nucleotide variant Uncertain significance rs150705915 1:116235043-116235043 1:115692422-115692422
44 VANGL1 NM_138959.3(VANGL1): c.*1456T> C single nucleotide variant Uncertain significance rs886045126 1:116235456-116235456 1:115692835-115692835
45 VANGL1 NM_138959.3(VANGL1): c.*1772A> G single nucleotide variant Uncertain significance rs114033235 1:116235772-116235772 1:115693151-115693151
46 VANGL1 NM_138959.3(VANGL1): c.*2099G> T single nucleotide variant Uncertain significance rs886045129 1:116236099-116236099 1:115693478-115693478
47 VANGL1 NM_138959.3(VANGL1): c.*47G> T single nucleotide variant Uncertain significance rs190792695 1:116234047-116234047 1:115691426-115691426
48 VANGL1 NM_138959.3(VANGL1): c.*3407dup duplication Uncertain significance rs752251154 1:116237407-116237407 1:115694786-115694786
49 VANGL1 NM_138959.3(VANGL1): c.*3598A> G single nucleotide variant Uncertain significance rs187286147 1:116237598-116237598 1:115694977-115694977
50 VANGL1 NM_138959.3(VANGL1): c.*3666G> A single nucleotide variant Uncertain significance rs886045138 1:116237666-116237666 1:115695045-115695045

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

74 (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:

37
# Name Kegg Source Accession
1 One carbon pool by folate hsa00670

Pathways related to Neural Tube Defects according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.32 SLC19A1 MTRR MTR MTHFR MTHFD1
2 11.82 VANGL1 SCRIB PAX3 AFP
3
Show member pathways
11.43 SLC19A1 MTRR MTR MTHFR MTHFD1 CCL2
4
Show member pathways
11.41 MTRR MTR MTHFR MTHFD1
5 10.69 MTRR MTR
6
Show member pathways
9.76 MTRR MTR

GO Terms for Neural Tube Defects

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

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

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....