MCID: NRL016
MIFTS: 76

Neural Tube Defects

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Neural Tube Defects

MalaCards integrated aliases for Neural Tube Defects:

Name: Neural Tube Defects 54 38 50 71 13 52 41 42
Spina Bifida 54 38 12 50 24 25 51 71 29 52 41 3 14
Neural Tube Defect 12 24 29 14
Ntd 24 71 3
Spinal Dysraphism 50 25
Rachischisis 50 25
Cleft Spine 50 25
Open Spine 50 25
Anencephaly 24
Dysraphism 50
Ntds 50

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant form


HPO:

32
neural tube defects:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Neural Tube Defects

NINDS : 51 Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).

MalaCards based summary : Neural Tube Defects, also known as spina bifida, is related to neural tube defects, folate-sensitive and homocystinuria, and has symptoms including hydrocephalus, anencephaly and spina bifida occulta. An important gene associated with Neural Tube Defects is VANGL1 (VANGL Planar Cell Polarity Protein 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Wnt / Hedgehog / Notch. The drugs Acetylcholine and Oxybutynin have been mentioned in the context of this disorder. Affiliated tissues include Neural Tube, brain and spinal cord, and related phenotypes are growth/size/body region and mortality/aging

NIH Rare Diseases : 50 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. last updated: 11/6/2013

UniProtKB/Swiss-Prot : 71 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.

MedlinePlus : 41 neural tube defects are birth defects of the brain, spine, or spinal cord. they happen in the first month of pregnancy, often before a woman even knows that she is pregnant. the two most common neural tube defects are spina bifida and anencephaly. in spina bifida, the fetal spinal column doesn't close completely. there is usually nerve damage that causes at least some paralysis of the legs. in anencephaly, most of the brain and skull do not develop. babies with anencephaly are usually either stillborn or die shortly after birth. another type of defect, chiari malformation, causes the brain tissue to extend into the spinal canal. the exact causes of neural tube defects aren't known. you're at greater risk of having an infant with a neural tube defect if you are obese 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 Spina bifida is a major birth defect of a person’s spine. With good quality medical care people with spina bifida can reach their full potential. If you have spina bifida, or know someone who does, it’s important to get the facts so that you can make the best possible health care choices.

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.

OMIM : 54
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)

Wikipedia : 72 Neural tube defects (NTDs) are a group of conditions in which an opening in the spinal cord or brain... 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 114)
id Related Disease Score Top Affiliating Genes
1 neural tube defects, folate-sensitive 35.1 MTHFD1 MTHFR MTR MTRR PARD3
2 homocystinuria 31.1 CBS MTHFR MTR
3 occipital encephalocele 31.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
4 myelocystocele 30.9 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
5 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.1
6 vangl1-related neural tube defect 12.1
7 vangl2-related neural tube defect 12.1
8 diphallus rachischisis imperforate anus 11.8
9 anencephaly 11.5
10 tethered spinal cord syndrome 11.5
11 encephalocele 11.4
12 iniencephaly 11.3
13 birth defects 11.2
14 meningocele 11.2
15 chiari malformation 11.2
16 craniorachischisis 11.2
17 homocystinuria due to mthfr deficiency 11.1 CBS MTHFR MTR
18 schistosomiasis 11.1
19 congenital intrinsic factor deficiency 11.1 MTR MTRR
20 carcinoma of esophagus, salivary gland type 11.1 MTHFR SLC19A1
21 x-linked disease 11.1 MTR MTRR
22 methylmalonic aciduria and homocystinuria, cblc type 11.1 CBS MTHFD1 MTR
23 mthfr thermolabile variant 11.1
24 agammaglobulinemia 2 11.1 MTHFR MTR MTRR
25 primary cerebellar degeneration 11.0 CBS MTHFR MTR MTRR
26 critical limb ischemia 11.0 CELSR1 DACT1 SCRIB VANGL2
27 caudal regression syndrome 11.0 FUZ VANGL1
28 factor v leiden thrombophilia 11.0 MTR MTRR
29 vaginal glandular tumor 11.0 MTHFR MTR MTRR
30 thoracolumbosacral spina bifida cystica 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
31 upper thoracic spina bifida aperta 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
32 cranial meningocele 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
33 phakomatosis pigmentokeratotica 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
34 homologous wasting disease 11.0 CBS MTHFR MTR MTRR SLC19A1
35 posterior meningocele 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
36 closed iniencephaly 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
37 spina bifida aperta 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
38 total spina bifida aperta 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
39 intraocular medulloepithelioma 11.0 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
40 intermediate maple syrup urine disease 10.9 FUZ MTHFD1 MTHFR T VANGL1 VANGL2
41 megacolon 10.9 CBS MTHFR
42 nonsyndromic congenital nail disorder 5 10.9 MTHFR ZIC1
43 orbital disease 10.9 MTHFR MTR MTRR
44 autosomal dominant sideroblastic anemia 10.9 AFP MTHFR SLC19A1
45 shwachman-diamond type metaphyseal dysplasia 10.9 AFP MTHFR ZIC2
46 bone ewing's sarcoma 10.9 MTHFR SLC19A1
47 holoprosencephaly 1 10.9 AFP CBS MTHFR MTRR
48 fryns microphthalmia syndrome 10.9
49 limb-body wall complex 10.9
50 meningoencephalocele 10.9

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



Diseases related to Neural Tube Defects

Symptoms & Phenotypes for Neural Tube Defects

Symptoms via clinical synopsis from OMIM:

54

Spine:
hydrocephalus
sacral agenesis
spina bifida
anencephaly
spina bifida cystica
more
Neuro:
neurologic signs in legs
urinary incontinence


Clinical features from OMIM:

182940

Human phenotypes related to Neural Tube Defects:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hydrocephalus 32 HP:0000238
2 anencephaly 32 HP:0002323
3 spina bifida occulta 32 HP:0003298
4 asymmetry of spinal facet joints 32 HP:0008482
5 urinary incontinence 32 HP:0000020
6 myelomeningocele 32 HP:0002475
7 multiple lipomas 32 HP:0001012

MGI Mouse Phenotypes related to Neural Tube Defects:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.36 VANGL2 CELSR1 DACT1 FUZ ITPK1 MTHFD1
2 mortality/aging MP:0010768 10.3 DACT1 FUZ ITPK1 MTHFD1 MTHFR MTR
3 embryo MP:0005380 10.29 CELSR1 DACT1 FUZ ITPK1 MTHFD1 PARD3
4 cardiovascular system MP:0005385 10.22 DACT1 FUZ MTHFD1 PARD3 PAX3 SCRIB
5 limbs/digits/tail MP:0005371 10.18 CELSR1 DACT1 FUZ MTHFD1 MTHFR PARD3
6 nervous system MP:0003631 10.17 CELSR1 DACT1 FUZ ITPK1 MTHFD1 MTHFR
7 digestive/alimentary MP:0005381 10.1 DACT1 FUZ PAX3 SCRIB SLC19A1 T
8 craniofacial MP:0005382 10.05 CELSR1 FUZ PAX3 SCRIB T VANGL2
9 hearing/vestibular/ear MP:0005377 9.91 CELSR1 FUZ PAX3 SCRIB VANGL1 VANGL2
10 reproductive system MP:0005389 9.81 AFP CELSR1 DACT1 MTHFR SCRIB SLC19A1
11 no phenotypic analysis MP:0003012 9.8 DACT1 MTHFR PARD3 PAX3 SCRIB T
12 skeleton MP:0005390 9.7 CELSR1 DACT1 FUZ ITPK1 MTHFR PAX3
13 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 133)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcholine Approved Phase 4,Phase 3 51-84-3 187
2
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
3 abobotulinumtoxinA Phase 4,Phase 3
4 Botulinum Toxins Phase 4,Phase 3
5 Botulinum Toxins, Type A Phase 4,Phase 3
6 Cholinergic Agents Phase 4,Phase 3
7 Neuromuscular Agents Phase 4,Phase 3
8 Neurotransmitter Agents Phase 4,Phase 3
9 onabotulinumtoxinA Phase 4,Phase 3
10 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2
11
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
12
Drospirenone Approved Phase 3 67392-87-4 68873
13
Ethinyl Estradiol Approved Phase 3 57-63-6 5991
14
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 5460373 44475014
15
Copper Approved Phase 3 7440-50-8 27099
16
Iron Approved Phase 3 7439-89-6 23925
17
Selenium Approved, Vet_approved Phase 3 7782-49-2
18
Zinc Approved Phase 3 7440-66-6 32051 23994
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 1 59-30-3 6037
20
leucovorin Approved, Nutraceutical Phase 3,Phase 1 58-05-9 143 6006
21
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
22
Niacin Approved, Investigational, Nutraceutical Phase 3 59-67-6 938
23
Nicotinamide Approved, Nutraceutical Phase 3 98-92-0 936
24 Orange Approved, Nutraceutical Phase 3
25
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
26
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
27
Riboflavin Approved, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
28
Thiamine Approved, Nutraceutical, Vet_approved Phase 3 59-43-8 1130
29 Tocopherol Approved, Nutraceutical Phase 3
30
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 11103-57-4, 68-26-8 445354
31
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
32
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
33
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
34
Iodine Investigational Phase 3 7553-56-2 807
35 Hematinics Phase 3,Phase 1
36 Micronutrients Phase 3,Phase 1
37 Trace Elements Phase 3,Phase 1
38 Vitamin B Complex Phase 3,Phase 1
39 Vitamins Phase 3,Phase 1
40 diuretics Phase 3,Phase 2
41 Estradiol 17 beta-cypionate Phase 3
42 Estradiol 3-benzoate Phase 3
43 Estradiol valerate Phase 3 979-32-8
44 Natriuretic Agents Phase 3,Phase 2
45 Polyestradiol phosphate Phase 3
46 Calcium, Dietary Phase 3
47 Contraceptive Agents Phase 3
48 Contraceptives, Oral Phase 3
49 Diuretics, Potassium Sparing Phase 3
50 Drospirenone and ethinyl estradiol combination Phase 3

Interventional clinical trials:

(show top 50) (show all 97)

id Name Status NCT ID Phase Drugs
1 Effect of Botulinum Toxin in Neurogenic Bladders in Children With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
2 Brain Function and White Matter Changes in Congenital, Acute and Chronic Spinal Cord Lesions Completed NCT01208584 Phase 4
3 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
4 Efficacy and Safety Study for an Oral Contraceptive Containing Folate Completed NCT00468481 Phase 3 Drospirenone/Ethinylestradiol/Methyltetrahydrofolate;Drospirenone/Ethinylestradiol (Yaz)
5 Study of Treatment With the Combination of Drospirenone Plus Ethinyl Estradiol Plus Levomefolate Calcium in Mexican Women Seeking Contraception Completed NCT01902264 Phase 3 EE20/DRSP/L-5-MTHF (Beyaz, BAY98-7071)
6 Children Toxine Botulinum Detrusor Injection in Neurogenic Vesical Hyperactivity Syndrom: Non Inferiority Multicenter Controlled Therapeutic Study Between Two Reported Weight's Doses Completed NCT02816151 Phase 3 full dose at 16 UI/kg for Dysport or 6,5 UA/kg for Botox;half dose at 8 UI/kg for Dysport or 3,25 UA/kg for Botox
7 Duragen Versus Duraguard in Chiari Surgery Completed NCT00741858 Phase 3
8 Impact of Pre-pregnancy Micronutrient Supplementation on Maternal and Child Outcomes Active, not recruiting NCT01665378 Phase 3
9 A Study to Evaluate Folate Levels in Women Taking Oral Contraceptives Withdrawn NCT00301587 Phase 3 Norgestimate-ethinyl estradiol, with or without folic acid
10 Effect of Acetazolamide & Position in CSF Leakage and Collection and Wound Dehiscence Unknown status NCT01867268 Phase 2 Acetazolamide
11 Lumbar to Sacral Ventral Nerve Re-Routing Completed NCT00378664 Phase 2
12 Coping Skills Training (CST) for Children With Chronic Health Conditions Completed NCT00359775 Phase 2
13 Efficacy of Acetaminophen in Posterior Fossa Surgery Recruiting NCT02532322 Phase 2 IV acetaminophen;normal saline
14 Post T-plant Infusion of Allogeneic Cytokine Induced Killer Cells as Consolidative Therapy in Myelodysplastic Syndromes/Myeloproliferative Disorders Active, not recruiting NCT01392989 Phase 2 CIK cells;Cyclosporine;Mycophenolate Mofetil;Thymoglobulin
15 Probiotics in Girls With Spina Bifida Withdrawn NCT00767988 Phase 2
16 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
17 Fetoscopic Meningomyelocele Repair Study Recruiting NCT02230072 Phase 1
18 The Impact of Community-based Wellness Programs on The Triple Aim Recruiting NCT02938130 Phase 1
19 Genetics of Neural Tube Defects Unknown status NCT01253746
20 Assessment of Functional Independence and Quality of Life in Adolescents With Spina Bifid Unknown status NCT00966927
21 Study of Genetic Risk Factors for Spina Bifida and Anencephaly Unknown status NCT00031122
22 Effect of Psycho-education on Gestational Weight Gain and Anxiety/Depression in Obese Pregnant Women Unknown status NCT01329835
23 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Unknown status NCT02266641
24 Chiari Study Looking at Use of Duragen Versus Duraguard Unknown status NCT00565435
25 Reciprocating Gait Orthoses for Paraplegia Patients Unknown status NCT02227407
26 Influence of "Espresso" on Adsorption of Myo-inositol Completed NCT01244399
27 Genetic Analysis of Neural Tube and Orofacial Cleft Defects in the Irish Population Completed NCT00341068
28 Efficacy of Weekly Versus Daily Folic Acid Supplementation Completed NCT00394862 multivitamin
29 Blood Folate and Homocysteine Levels Following Administration of Folic Acid According to Different Daily Dosing Schedules:a Simulation of Food Fortification Completed NCT00207558 folic acid
30 Folate Metabolism in Normal Weight and Obese Women of Child-bearing Age Completed NCT01743196
31 Outcome of Fetal Spina Bifida Completed NCT01100697
32 Management of Myelomeningocele Study (MOMS) Completed NCT00060606
33 Follow-up Study of Late Effects of Periconceptional Folic Acid in Mothers and Offspring in the Community Intervention Program Population: The Chinese Children and Families Study Completed NCT01365975
34 Birth Defects Associated With Exposure to Lamotrigine in Pregnancy (EUROCAT) Completed NCT01055327 Lamotrigine monotherapy;No anti-epileptic drug exposure;Non lamotrigine anti-epileptic drug monotherapy
35 Influence of Genetics on Vitamin Metabolism in Pregnant Women Completed NCT00340366
36 Effects of Maternal Folate and Folic Acid Supplementation on DNA Methylation in the Newborn Infant Completed NCT02244684
37 Nutrition Intervention for the Promotion of Healthy Weight Gain During Pregnancy Completed NCT01056406
38 3D-printed Module-assisted Minimally Invasive Lumbar Pedicle Screw Placement Completed NCT02970578
39 Metformin in Children With Motor Deficit Completed NCT00720161 Metformin;placebo
40 Dosage Effects of Folic Acid on Blood Folates of Honduran Women Completed NCT00207532 folic acid
41 Parental Perspectives of Using Toy Cars on Social Interactions of Preschool Children With Mobility Impairments Completed NCT02682043
42 Cognitive Rehabilitation in Patients With Spina Bifida Completed NCT01302314
43 Micronutrient-supplemented Milk Study in Women of Childbearing Age Completed NCT01712165
44 Hemangioma Associated With High Rates of Morbidity Completed NCT00394888
45 Virtual Reality Based Testing of Power Wheelchair Driving Skills Completed NCT00951509
46 Comparing Urinary Tract Infections in Children With Spina Bifida Using Two Types of Catheters for Catheterization Completed NCT01263392
47 Prevention of Post Operative Bone Loss in Children Completed NCT00655681 pamidronate
48 Fetal Myelomeningocele Completed NCT03073382
49 A Randomized Exercise Trial for Wheelchair Users Completed NCT00866112
50 dbGaP Protocol: Genetic Variants Associated With Pentalogy of Cantrell Completed NCT02430376

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:

id Genetic test Affiliating Genes
1 Neural Tube Defect 29 24
2 Spina Bifida 29

Anatomical Context for Neural Tube Defects

MalaCards organs/tissues related to Neural Tube Defects:

39
Brain, Spinal Cord, Bone, Skin, Testes, Heart, Testis
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Neural Tube Defects:
id 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 877)
id Title Authors Year
1
Use of high frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice. ( 28056489 )
2017
2
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. ( 28805617 )
2017
3
Formation of neurodegenerative aggresome and death-inducing signaling complex in maternal diabetes-induced neural tube defects. ( 28396396 )
2017
4
Proposal for supplemental intake of folic acid to reduce the risk of neural tube defects. ( 28266124 )
2017
5
Folic acid usage and associated factors in the prevention of neural tube defects among pregnant women in Ethiopia: cross-sectional study. ( 28934941 )
2017
6
Protein kinase C-alpha suppresses autophagy and induces neural tube defects via miR-129-2 in diabetic pregnancy. ( 28474670 )
2017
7
Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. ( 28770393 )
2017
8
Papers from the Ninth International Conference on Neural Tube Defects. ( 28398651 )
2017
9
Neural Tube Defects: Risk Factors and Preventive Measures. ( 28425110 )
2017
10
Homocysteine-induced changes in cell proliferation and differentiation in the chick embryo spinal cord: implications for mechanisms of neural tube defects (NTD). ( 28242235 )
2017
11
Klippel-Feil Syndrome Associated with Sacral Agenesis, Low Lying Cord, Lipomyelomeningocele and Split Cord Malformation Presenting with Tethered Cord Syndrome: Pentads Neural Tube Defects Spread along Whole Spinal Axis. ( 28553382 )
2017
12
Relationship between maternal blood ceruloplasmin level, catalase and myeloperoxidase activity and neural tube defects. ( 28397206 )
2017
13
Prevention of neural tube defects and maternal gestational diabetes through the inositol supplementation: preliminary results. ( 28770950 )
2017
14
High Ratios of C20:4n-6/C20:5n-3 and Thromboxane B2 /6-Keto-Prostaglandin F1I+ in Placenta Are Potential Risk Contributors for Neural Tube Defects: A Case-Control Study in Shanxi Province, China. ( 28398620 )
2017
15
Population-based case-control study of the association between weather-related extreme heat events and neural tube defects. ( 28766872 )
2017
16
Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches. ( 28762673 )
2017
17
The clinical features of paediatric neural tube defects changed in a tertiary care centre between 1997 and 2015. ( 28135771 )
2017
18
Novel approach to supine positioning for infants with spinal neural tube defects. ( 28101975 )
2017
19
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. ( 28944587 )
2017
20
Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis. ( 28059605 )
2017
21
Scribble1 plays an important role in the pathogenesis of neural tube defects through its mediating effect of Par-3 and Vangl1/2 localization. ( 28369449 )
2017
22
Maternal occupation and the risk of neural tube defects in offspring. ( 28723301 )
2017
23
Time trends in the prevalence and epidemiological characteristics of neural tube defects in Liaoning Province, China, 2006-2015: A population-based study. ( 28177882 )
2017
24
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation. ( 28862178 )
2017
25
A parental perspective concerning barriers to care for neural tube defects in China. ( 28904822 )
2017
26
Air pollution, neighborhood acculturation factors, and neural tube defects among Hispanic women in California. ( 28398703 )
2017
27
Apoptosis, Expression of PAX3 and P53, and Caspase Signal in Fetuses with Neural Tube Defects. ( 28786179 )
2017
28
A single center study of epidemiology of neural tube defects. ( 28149108 )
2017
29
Exome analysis in an Estonian multiplex family with neural tube defects-a case report. ( 28721594 )
2017
30
Notomelia and related neural tube defects in a baby born in Niger: case report and literature review. ( 28083641 )
2017
31
A pilot study on the association between rare earth elements in maternal hair and the risk of neural tube defects in north China. ( 28411498 )
2017
32
Surveillance survey of family history in children with neural tube defects. ( 28362184 )
2017
33
Prevalence of Neural Tube Defects and the Impact of Prenatal Diagnosis in Three Districts of Beijing, China. ( 28464249 )
2017
34
Risk factors associated with neural tube defects in infants referred to western Iranian obstetrical centers; 2013-2014. ( 28848641 )
2017
35
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. ( 28742214 )
2017
36
CSF-Based Analysis for Identification of Potential Serum Biomarkers of Neural Tube Defects. ( 28695418 )
2017
37
Interaction between Maternal and Paternal SHMT1 C1420T Predisposes to Neural Tube Defects in the Fetus: Evidence from Case-Control and Family-Based Triad Approaches. ( 28411382 )
2017
38
Highlighting recognition, management, and treatment of neural tube defects at various stages of development. ( 28265328 )
2017
39
The preventive effects of taurine on neural tube defects through the Wnt/PCP-Jnk-dependent pathway. ( 28718066 )
2017
40
Evolution of posterior fossa and brain morphology after in utero repair of open neural tube defects assessed by MRI. ( 28500367 )
2017
41
Are concentrations of alkaline earth elements in maternal hair associated with risk of neural tube defects? ( 28763666 )
2017
42
Mediterranean diet, folic acid, and neural tube defects. ( 28818086 )
2017
43
Prevalence of neural tube defects in a rural area of north india from 2001 to 2014: A population-based survey. ( 27875031 )
2016
44
Evaluation of proton-coupled folate transporter (SLC46A1) polymorphisms as risk factors for neural tube defects and oral clefts. ( 26789141 )
2016
45
Access to health care for children with neural tube defects: Experiences of mothers in Zambia. ( 28730060 )
2016
46
Epidemiology of the neural tube defects in Kashmir Valley. ( 27857789 )
2016
47
Cadmium-induced neural tube defects and fetal growth restriction: Association with disturbance of placental folate transport. ( 27417525 )
2016
48
Effectiveness of Folic Acid Fortified Flour for Prevention of Neural Tube Defects in a High Risk Region. ( 27005659 )
2016
49
Epidemiology of the neural tube defects in Kashmir Valley. ( 27127700 )
2016
50
Screening for Open Neural Tube Defects. ( 27235920 )
2016

Variations for Neural Tube Defects

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

71 (show all 12)
id 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 SCRIB p.Pro454Ser VAR_067219
7 SCRIB p.Arg1535Gln VAR_067220
8 VANGL1 p.Arg274Gln VAR_035210 rs121918219
9 VANGL1 p.Met328Thr VAR_035211 rs121918220
10 VANGL2 p.Ser84Phe VAR_067221
11 VANGL2 p.Arg353Cys VAR_067222 rs267607167
12 VANGL2 p.Phe437Ser VAR_067223 rs267607168

ClinVar genetic disease variations for Neural Tube Defects:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CCL2 NG_012123.1: g.2493A> G single nucleotide variant Pathogenic,risk factor rs1024611 GRCh37 Chromosome 17, 32579788: 32579788
2 PARD3 NM_019619.3(PARD3): c.3745G> A (p.Gly1249Ser) single nucleotide variant risk factor rs757259023 GRCh37 Chromosome 10, 34400423: 34400423
3 PARD3 NM_019619.3(PARD3): c.2738C> A (p.Pro913Gln) single nucleotide variant Pathogenic rs781461462 GRCh38 Chromosome 10, 34331221: 34331221
4 PARD3 NM_019619.3(PARD3): c.2581A> T (p.Thr861Ser) single nucleotide variant risk factor rs762921297 GRCh37 Chromosome 10, 34625160: 34625160
5 PARD3 NM_019619.3(PARD3): c.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh37 Chromosome 10, 34630624: 34630624
6 PARD3 NM_019619.3(PARD3): c.1046G> A (p.Arg349His) single nucleotide variant risk factor rs199923448 GRCh37 Chromosome 10, 34671821: 34671821
7 PARD3 NM_019619.3(PARD3): c.583-3T> C single nucleotide variant risk factor rs557643577 GRCh37 Chromosome 10, 34739379: 34739379
8 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh37 Chromosome 10, 34835589: 34975192

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)
id 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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 MTHFD1 MTHFR MTR MTRR SLC19A1
2 11.71 AFP PAX3 SCRIB VANGL1
3
Show member pathways
11.63 CBS MTR MTRR
4
Show member pathways
11.17 CBS MTHFD1 MTHFR MTR MTRR
5 10.75 MTR MTRR
6
Show member pathways
10.28 CBS MTHFR
7
Show member pathways
9.73 MTR MTRR

GO Terms for Neural Tube Defects

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 CELSR1 DACT1 FUZ PAX3 SCRIB T
2 anterior/posterior pattern specification GO:0009952 9.79 CELSR1 T VANGL2
3 Wnt signaling pathway, planar cell polarity pathway GO:0060071 9.79 CELSR1 VANGL1 VANGL2
4 wound healing GO:0042060 9.78 CELSR1 SCRIB VANGL2
5 hair follicle development GO:0001942 9.69 CELSR1 FUZ VANGL2
6 regulation of smoothened signaling pathway GO:0008589 9.64 FUZ ZIC1
7 cobalamin metabolic process GO:0009235 9.63 MTR MTRR
8 post-anal tail morphogenesis GO:0036342 9.63 T VANGL2
9 cellular amino acid biosynthetic process GO:0008652 9.62 CBS MTHFD1 MTR MTRR
10 establishment or maintenance of epithelial cell apical/basal polarity GO:0045197 9.6 SCRIB VANGL2
11 planar cell polarity pathway involved in neural tube closure GO:0090179 9.59 CELSR1 VANGL2
12 tetrahydrofolate interconversion GO:0035999 9.58 MTHFD1 MTHFR
13 apical protein localization GO:0045176 9.58 CELSR1 VANGL2
14 establishment of planar polarity GO:0001736 9.58 CELSR1 FUZ VANGL2
15 sulfur amino acid metabolic process GO:0000096 9.57 MTR MTRR
16 homocysteine metabolic process GO:0050667 9.56 CBS MTHFR
17 astrocyte cell migration GO:0043615 9.55 CCL2 SCRIB
18 transsulfuration GO:0019346 9.54 CBS MTHFD1
19 methionine biosynthetic process GO:0009086 9.54 MTHFD1 MTR MTRR
20 establishment of body hair planar orientation GO:0048105 9.52 CELSR1 VANGL2
21 homocysteine catabolic process GO:0043418 9.49 CBS MTRR
22 lateral sprouting involved in lung morphogenesis GO:0060490 9.48 CELSR1 VANGL2
23 planar dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060489 9.46 CELSR1 VANGL2
24 orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis GO:0060488 9.43 CELSR1 VANGL2
25 methionine metabolic process GO:0006555 9.43 MTHFD1 MTHFR MTRR
26 folic acid metabolic process GO:0046655 9.26 MTHFD1 MTHFR MTRR SLC19A1
27 neural tube closure GO:0001843 9.1 CELSR1 FUZ MTHFD1 SCRIB T VANGL2
28 nervous system development GO:0007399 10.02 DACT1 MTR PAX3 ZIC1 ZIC2

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

id Name GO ID Score Top Affiliating Genes
1 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Neural Tube Defects

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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