MCID: NRL016
MIFTS: 78

Neural Tube Defects malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Aliases & Classifications for Neural Tube Defects

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Neural Tube Defects, Aliases & Descriptions:

Name: Neural Tube Defects 45 30 10 41 43 32
Spina Bifida 45 30 9 41 21 42 11 43 32 3
Neural Tube Defect 41 20 22
Spinal Dysraphism 41 21
Rachischisis 41 21
 
Cleft Spine 41 21
Open Spine 41 21
Isolated Spina Bifida 41
Dysraphism 41
Ntds 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


External Ids:

OMIM45 182940
Disease Ontology9 DOID:0080016
ICD1025 Q05, Q05.4

Summaries for Neural Tube Defects

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NINDS:42 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 craniorachischisis, and has symptoms including autosomal dominant inheritance, urinary incontinence and hydrocephalus. An important gene associated with Neural Tube Defects is FUZ (fuzzy planar cell polarity protein), and among its related pathways are Folate Metabolism and Folate-Alcohol and Cancer Pathway. The compounds "vitamin b-complex, plain" and methyl-group have been mentioned in the context of this disorder. Affiliated tissues include lung, brain and liver, and related mouse phenotypes are pigmentation and hearing/vestibular/ear.

Genetics Home Reference:21 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.

NIH Rare Diseases:41 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

OMIM:45 Neural tube defects are the second most common type of birth defect after congenital heart defects. The 2 most common... (182940) more...

MedlinePlus:32 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 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.

Wikipedia:63 Neural tube defects (NTDs) is an opening in the spinal cord or brain that occurs very early in human... more...

Related Diseases for Neural Tube Defects

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

(show top 50)    (show all 287)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects, folate-sensitive31.7MTRR, MTR
2craniorachischisis31.3VANGL2
3myelomeningocele31.3MTHFR, CBS
4down syndrome31.2CBS, MTHFR, MTRR, MTR, SLC19A1
5caudal regression syndrome31.2VANGL1
6strabismus31.2VANGL2
7cleft lip31.0SLC19A1, MTR, MTRR, MTHFR
8vitamin b12 deficiency30.8MTR, MTHFR, TCN2
9glucose intolerance30.6TCN2, MTR
10homocystinuria30.6CBS, TCN2, MTHFR, MTRR, MTR
11hyperhomocysteinemia30.3SLC19A1, MTR, MTRR, MTHFR, CCL2, CBS
12breast cancer30.3CBS, MTHFR, MTRR, MTR, SNAI2, SLC19A1
13vascular disease30.3SLC19A1, MTR, MTRR, MTHFR, CCL2, CBS
14spina bifida aperta11.1
15occult spinal dysraphism11.0
16anencephaly10.8
17cerebritis10.7
18split hand urinary anomalies spina bifida10.7
19neurogenic bladder10.6
20encephalocele10.6
21anencephaly and spina bifida x-linked10.6
22omphalocele10.5
23cerebral palsy10.5
24cervicitis10.5
25orofacial cleft10.5
26exencephaly10.5
27iniencephaly10.5
28spondylolisthesis10.5
29homocysteinemia due to mthfr deficiency10.5MTHFR, MTR
30megaloblastic anemia10.5TCN2, MTR
31obesity10.5
32hydrocephalus10.5
33acropectorovertebral dysplasia10.4
34fecal incontinence10.4
35spinal cord injury10.4
36spondylolysis10.4
37constipation10.4
38scoliosis10.4
39kasznica carlson coppedge syndrome10.4
40cervical spina bifida cystica10.4
41lumbosacral spina bifida cystica10.4
42cervical spina bifida aperta10.4
43disorders of intracellular cobalamin metabolism10.4MTR, MTRR
44congenital heart disease10.4ZIC3, MTHFR
45homocysteinemia10.4CBS, MTHFR, MTR
46hyperopia10.4VANGL2, VANGL1
47meningocele10.4
48vangl1-related neural tube defect10.4
49vangl2-related neural tube defect10.4
50diabetic embryopathy10.4

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



Diseases related to neural tube defects

Symptoms for Neural Tube Defects

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Symptoms by clinical synopsis from OMIM:

182940

Clinical features from OMIM:

182940

HPO human phenotypes related to Neural Tube Defects:

(show all 8)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 urinary incontinence HP:0000020
3 hydrocephalus HP:0000238
4 multiple lipomas HP:0001012
5 anencephaly HP:0002323
6 myelomeningocele HP:0002475
7 spina bifida occulta HP:0003298
8 asymmetry of spinal facet joints HP:0008482

Drugs & Therapeutics for Neural Tube Defects

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Drug clinical trials:

Search ClinicalTrials for Neural Tube Defects

Search NIH Clinical Center for Neural Tube Defects

Genetic Tests for Neural Tube Defects

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Genetic tests related to Neural Tube Defects:

id Genetic test Affiliating Genes
1 Neural Tube Defect20 22

Anatomical Context for Neural Tube Defects

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MalaCards organs/tissues related to Neural Tube Defects:

31
Lung, Brain, Liver, Spinal cord, Skin, Bone, Heart, Testes, Endothelial, Thyroid, Placenta, Adipocyte, Pancreas, B cells, Pituitary, Bone marrow, Monocytes

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 TissueAnatomical CompartmentCell Relevance
1 Neural TubeNeural Tube  Affected by disease

Animal Models for Neural Tube Defects or affiliated genes

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MGI Mouse Phenotypes related to Neural Tube Defects:

35 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7FUZ, CCL2, SNAI2, ZIC2
2MP:00053779.6FUZ, SCRIB, VANGL2, VANGL1, CELSR1, ZIC3
3MP:00028739.5ALX1, ZIC3, CCL2, VANGL1, VANGL2, T
4MP:00053679.4DACT1, T, SCRIB, CBS, VANGL2, SLC19A1
5MP:00053889.2FUZ, SCRIB, CBS, VANGL2, VANGL1, CELSR1
6MP:00053709.2FUZ, CBS, CCL2, ZIC3, SLC19A1
7MP:00107719.1T, CBS, CELSR1, CCL2, MTHFR, SNAI2
8MP:00053819.0SCRIB, T, FUZ, DACT1, VANGL2, CCL2
9MP:00053829.0FUZ, T, CBS, VANGL2, CELSR1, CCL2
10MP:00053918.9VANGL2, CBS, SCRIB, FUZ, CELSR1, CCL2
11MP:00053858.9DACT1, FUZ, T, CBS, VANGL2, VANGL1
12MP:00053978.8CBS, VANGL2, CELSR1, CCL2, MTHFD1, SNAI2
13MP:00053898.7CBS, SCRIB, T, DACT1, VANGL2, VANGL1
14MP:00053868.7T, CBS, VANGL2, CELSR1, CCL2, SNAI2
15MP:00053908.7DACT1, FUZ, T, VANGL2, CELSR1, CCL2
16MP:00053718.5ALX1, DACT1, FUZ, T, SCRIB, CBS
17MP:00053768.4CELSR1, VANGL2, CBS, T, FUZ, CCL2
18MP:00053808.2VANGL2, CBS, SCRIB, T, FUZ, DACT1
19MP:00036318.1VANGL1, VANGL2, SCRIB, T, FUZ, DACT1
20MP:00053787.7CELSR1, VANGL1, VANGL2, CBS, SCRIB, T
21MP:00107687.4CELSR1, VANGL1, VANGL2, CBS, SCRIB, T

Publications for Neural Tube Defects

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Articles related to Neural Tube Defects:

(show top 50)    (show all 729)
idTitleAuthorsYear
1
DNA methylation aberrations rather than polymorphisms of FZD3 gene increase the risk of spina bifida in a high-risk region for neural tube defects. (25131656)
2014
2
Association between VANGL1 Gene Polymorphisms and Neural Tube Defects. (24407469)
2014
3
Genetic studies of ANKRD6 as a molecular switch between Wnt signaling pathways in human neural tube defects. (25200652)
2014
4
Neural tube defects, folic acid and methylation. (24048206)
2013
5
Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway. (24203697)
2013
6
Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects. (22892949)
2013
7
Is LMNB1 a susceptibility gene for neural tube defects in humans? (23733478)
2013
8
The amniotic fluid as a source of neural stem cells in the setting of experimental neural tube defects. (22957979)
2013
9
A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study. (23059057)
2012
10
Multiple neural tube defects in a child: A rare developmental anomaly. (23372964)
2012
11
Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects. (22732525)
2012
12
Serum ischemia modified albumin levels in pregnancies with neural tube defects. (22324268)
2012
13
Spinal neural tube defects in Lagos University Teaching Hospital, Nigeria. (23175875)
2012
14
Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects. (21768370)
2011
15
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. (21840926)
2011
16
Policy statement on folic acid and neural tube defects. (21552133)
2011
17
Importance of including all pregnancy outcomes to reduce bias in epidemiologic studies of neural tube defects--Texas, 1999 to 2005. (21290567)
2011
18
The emerging role of epigenetic mechanisms in the etiology of neural tube defects. (21613818)
2011
19
Gender-dependent differences in the incidence of ochratoxin A-induced neural tube defects in the Pdn/Pdn mouse. (20201966)
2010
20
Neural tube defects in Australia: trends in encephaloceles and other neural tube defects before and after promotion of folic acid supplementation and voluntary food fortification. (19180646)
2009
21
Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly. (19379086)
2009
22
Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview. (19180567)
2009
23
Reproductive and sphingolipid metabolic effects of fumonisin B(1) and its alkaline hydrolysis product in LM/Bc mice: hydrolyzed fumonisin B(1) did not cause neural tube defects. (19783636)
2009
24
Neural tube defects and herbal medicines containing lead: a possible relationship. (19028023)
2009
25
Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. (18068170)
2008
26
Syndromes, disorders and maternal risk factors associated with neural tube defects (IV). (18603497)
2008
27
The hair collar sign as a marker for neural tube defects. (17461809)
2007
28
Health literacy and patient understanding of screening tests for aneuploidy and neural tube defects. (17345585)
2007
29
Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population. (17474166)
2007
30
Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population. (15799025)
2005
31
Maternal diabetes and neural tube defects: prenatal diagnosis of lumbosacral myelomeningocele, ventriculomegaly, Arnold-Chiari malformation and foot deformities in a pregnancy with poor maternal metabolic control, and review of the literature. (16259331)
2005
32
Haplotype-dependent binding of nuclear proteins to the promoter of the neural tube defects-associated platelet-derived growth factor alpha-receptor gene. (16126374)
2005
33
Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. (15060097)
2004
34
Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family. (15456783)
2004
35
Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects. (14741194)
2004
36
Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects. (15306729)
2004
37
Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. (12107818)
2002
38
Human T and risk for neural tube defects. (11897834)
2002
39
A novel mutation in the gene encoding noggin is not causative in human neural tube defects. (12420790)
2002
40
Rudimentary meningocele: remnant of a neural tube defect? (11176660)
2001
41
Neural tube defects in the Asir Region of Saudi Arabia. (17264584)
2001
42
Multicentric study of efficacy of periconceptional folic acid containing vitamin supplementation in prevention of open neural tube defects from India. (11247198)
2000
43
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
44
Molecular genetic analysis of human folate receptors in neural tube defects. (10234517)
1999
45
Methionine synthase: high-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects. (10444343)
1999
46
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. (10419687)
1999
47
Physical and transcriptional map of a 3-Mb region of mouse chromosome 1 containing the gene for the neural tube defect mutant loop-tail (Lp). (10051400)
1999
48
Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. (10190266)
1999
49
Identical twins with Weissenbacher-ZweymA1ller syndrome and neural tube defect. (8456835)
1993
50
Amniotic fluid cholinesterase of valproate-induced exencephaly in the mouse: an animal model for prenatal diagnosis of neural tube defects. (3142446)
1988

Variations for Neural Tube Defects

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

62 (show all 12)
id Symbol AA change Variation ID SNP ID
1CELSR1p.Ala773ValVAR_067213rs12170597
2CELSR1p.Arg2438GlnVAR_067215rs199688538
3CELSR1p.Ser2964LeuVAR_067217rs6008777
4CELSR1p.Pro2983AlaVAR_067218rs61741871
5DACT1p.Asn356LysVAR_068429
6SCRIBp.Pro454SerVAR_067219
7SCRIBp.Arg1535GlnVAR_067220
8VANGL1p.Arg274GlnVAR_035210
9VANGL1p.Met328ThrVAR_035211
10VANGL2p.Ser84PheVAR_067221
11VANGL2p.Arg353CysVAR_067222
12VANGL2p.Phe437SerVAR_067223

Clinvar genetic disease variations for Neural Tube Defects:

6
id Gene Variation Type Significance SNP ID Assembly Location
1VANGL1NM_138959.2(VANGL1): c.821G> A (p.Arg274Gln)single nucleotide variantPathogenicrs121918219GRCh37Chr 1, 116224993: 116224993
2VANGL1NM_138959.2(VANGL1): c.983T> C (p.Met328Thr)single nucleotide variantPathogenicrs121918220GRCh37Chr 1, 116226601: 116226601
3CCL2NG_012123.1: g.2493A> Gsingle nucleotide variantPathogenic, risk factorrs1024611GRCh37Chr 17, 32579788: 32579788
4FUZNM_025129.4(FUZ): c.115C> T (p.Pro39Ser)single nucleotide variantPathogenicrs387907204GRCh37Chr 19, 50315990: 50315990
5FUZNM_025129.4(FUZ): c.1060G> T (p.Asp354Tyr)single nucleotide variantPathogenicrs139365610GRCh37Chr 19, 50310605: 50310605
6FUZFUZZY, ARG404GLUsingle nucleotide variantPathogenic
7VANGL2NM_020335.2(VANGL2): c.1057C> T (p.Arg353Cys)single nucleotide variantPathogenicrs267607167GRCh37Chr 1, 160390961: 160390961
8VANGL2NM_020335.2(VANGL2): c.1310T> C (p.Phe437Ser)single nucleotide variantPathogenicrs267607168GRCh37Chr 1, 160394912: 160394912

Expression for genes affiliated with Neural Tube Defects

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LifeMap Discovery
Genes differentially expressed in tissues of Neural Tube Defects patients vs. healthy controls: 30 (show all 176)
id Gene Description Tissue Up/Dn Fold Change (log2) P value
1SFTPCsurfactant protein CLung-6.580.000
2CLDN18claudin 18Lung-6.410.000
3ADH1Balcohol dehydrogenase 1B (class I), beta polypeptideLung-6.180.000
4AGERadvanced glycosylation end product-specific receptorLung-5.700.000
5CLIC5chloride intracellular channel 5Lung-5.510.000
6AQP4aquaporin 4Lung-5.290.000
7CYP4B1cytochrome P450, family 4, subfamily B, polypeptide 1Lung-5.270.000
8TMEM100transmembrane protein 100Lung-5.070.000
9FABP4fatty acid binding protein 4, adipocyteLung-5.030.000
10GKN2gastrokine 2Lung-4.990.000
11FAM107Afamily with sequence similarity 107, member ALung-4.950.000
12MT1Mmetallothionein 1MLung-4.940.000
13CPB2carboxypeptidase B2 (plasma)Lung-4.880.000
14GPM6Aglycoprotein M6ALung-4.710.000
15PEBP4phosphatidylethanolamine-binding protein 4Lung-4.610.000
16TNNC1troponin C type 1 (slow)Lung-4.460.000
17FIGFc-fos induced growth factor (vascular endothelial growth factor D)Lung-4.430.000
18C19orf59chromosome 19 open reading frame 59Lung-4.430.000
19CLEC3BC-type lectin domain family 3, member BLung-4.420.000
20FCN3ficolin (collagen/fibrinogen domain containing) 3Lung-4.340.000
21WIF1WNT inhibitory factor 1Lung-4.270.000
22ABCA8ATP-binding cassette, sub-family A (ABC1), member 8Lung-4.250.000
23TYROBPTYRO protein tyrosine kinase binding proteinAdipose+4.220.000
24SFTPDsurfactant protein DLung-4.200.000
25CA4carbonic anhydrase IVLung-4.180.000
26CD36CD36 molecule (thrombospondin receptor)Lung-4.170.000
27ADAMTS8ADAM metallopeptidase with thrombospondin type 1 motif, 8Lung-4.150.000
28INMTindolethylamine N-methyltransferaseLung-4.090.000
29MAMDC2MAM domain containing 2Lung-4.050.000
30SCN7Asodium channel, voltage-gated, type VII, alpha subunitLung-4.010.000
31VEPH1ventricular zone expressed PH domain-containing 1Lung-4.010.000
32LRRK2leucine-rich repeat kinase 2Lung-4.010.000
33CHRDL1chordin-like 1Lung-3.990.000
34GPR183G protein-coupled receptor 183Adipose+3.950.000
35COL4A3collagen, type IV, alpha 3 (Goodpasture antigen)Lung-3.950.000
36SUSD2sushi domain containing 2Lung-3.940.000
37TCF21transcription factor 21Lung-3.920.000
38PGCprogastricsin (pepsinogen C)Lung-3.920.000
39SCGB1A1secretoglobin, family 1A, member 1 (uteroglobin)Lung-3.910.000
40FHL1four and a half LIM domains 1Lung-3.810.000
41SFTPA2surfactant protein A2Lung-3.790.000
42EDNRBendothelin receptor type BLung-3.780.000
43FN1fibronectin 1Adipose+3.760.000
44SFTA2surfactant associated 2Lung-3.760.000
45ADRB1adrenoceptor beta 1Lung-3.750.000
46EMCNendomucinLung-3.750.000
47FOSBFBJ murine osteosarcoma viral oncogene homolog BLung-3.730.000
48FAM150Bfamily with sequence similarity 150, member BLung-3.720.000
49SFTA3surfactant associated 3Lung-3.720.000
50CXCL2chemokine (C-X-C motif) ligand 2Lung-3.710.000
51AGR3anterior gradient 3Lung-3.700.000
52PDK4pyruvate dehydrogenase kinase, isozyme 4Lung-3.700.000
53FOLR1folate receptor 1 (adult)Lung-3.700.000
54C2orf40chromosome 2 open reading frame 40Lung-3.700.000
55LPLlipoprotein lipaseLung-3.690.000
56FMO2flavin containing monooxygenase 2 (non-functional)Lung-3.670.000
57SULF1sulfatase 1Lung+3.660.000
58TRIM29tripartite motif containing 29Lung+3.660.000
59SERPINB3serpin peptidase inhibitor, clade B (ovalbumin), member 3Lung+3.650.000
60COL10A1collagen, type X, alpha 1Lung+3.650.000
61STXBP6syntaxin binding protein 6 (amisyn)Lung-3.630.000
62TFAP2Atranscription factor AP-2 alpha (activating enhancer binding protein 2 alpha)Lung+3.630.000
63CTHRC1collagen triple helix repeat containing 1Lung+3.630.000
64NOSTRINnitric oxide synthase traffickingLung-3.630.000
65SCGB3A2secretoglobin, family 3A, member 2Lung-3.620.000
66PKP1plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)Lung+3.620.000
67SELEselectin ELung-3.610.000
68BUB1BBUB1 mitotic checkpoint serine/threonine kinase BLung+3.600.000
69SPRR2Bsmall proline-rich protein 2BLung+3.590.000
70LIMCH1LIM and calponin homology domains 1Lung-3.590.000
71MAD2L1MAD2 mitotic arrest deficient-like 1 (yeast)Lung+3.580.000
72C7complement component 7Lung-3.570.000
73SDPRserum deprivation responseLung-3.560.000
74HBBhemoglobin, betaLung-3.550.000
75PTPRBprotein tyrosine phosphatase, receptor type, BLung-3.540.000
76CDCA7cell division cycle associated 7Lung+3.540.000
77TIMP1TIMP metallopeptidase inhibitor 1Adipose+3.530.000
78BTNL9butyrophilin-like 9Lung-3.520.000
79CENPFcentromere protein F, 350/400kDaLung+3.510.000
80COL1A1collagen, type I, alpha 1Lung+3.510.000
81UHRF1ubiquitin-like with PHD and ring finger domains 1Lung+3.510.000
82SERPINB13serpin peptidase inhibitor, clade B (ovalbumin), member 13Lung+3.500.000
83PLA2G1Bphospholipase A2, group IB (pancreas)Lung-3.500.000
84PBKPDZ binding kinaseLung+3.500.000
85ANKRD29ankyrin repeat domain 29Lung-3.500.000
86SFTPBsurfactant protein BLung-3.490.000
87CENPAcentromere protein ALung+3.480.000
88GINS1GINS complex subunit 1 (Psf1 homolog)Lung+3.480.000
89CEP55centrosomal protein 55kDaLung+3.480.000
90SFTA1Psurfactant associated 1, pseudogeneLung-3.460.000
91TTKTTK protein kinaseLung+3.460.000
92PTPRZ1protein tyrosine phosphatase, receptor-type, Z polypeptide 1Adipose+3.440.000
93PRC1protein regulator of cytokinesis 1Lung+3.440.000
94C4BPAcomplement component 4 binding protein, alphaLung-3.440.000
95CDK1cyclin-dependent kinase 1Lung+3.430.000
96ZNF385Bzinc finger protein 385BLung-3.430.000
97HPGDhydroxyprostaglandin dehydrogenase 15-(NAD)Lung-3.420.000
98PTGDSprostaglandin D2 synthase 21kDa (brain)Adipose+3.420.000
99MELKmaternal embryonic leucine zipper kinaseLung+3.420.000
100PTPRZ1protein tyrosine phosphatase, receptor-type, Z polypeptide 1Lung+3.410.000
101ADAM12ADAM metallopeptidase domain 12Lung+3.410.000
102S100A7S100 calcium binding protein A7Lung+3.390.000
103DARCDuffy blood group, atypical chemokine receptorLung-3.390.000
104HSD17B6hydroxysteroid (17-beta) dehydrogenase 6Lung-3.390.000
105KRT13keratin 13Lung+3.390.000
106CACNA2D2calcium channel, voltage-dependent, alpha 2/delta subunit 2Lung-3.390.000
107MARCOmacrophage receptor with collagenous structureLung-3.380.000
108MAGEA3melanoma antigen family A, 3Lung+3.370.000
109KCNK3potassium channel, subfamily K, member 3Lung-3.360.000
110SLC6A8solute carrier family 6 (neurotransmitter transporter), member 8Lung+3.360.000
111OLR1oxidized low density lipoprotein (lectin-like) receptor 1Lung-3.340.000
112NEK2NIMA-related kinase 2Lung+3.340.000
113LYZlysozymeAdipose+3.330.000
114CDKN3cyclin-dependent kinase inhibitor 3Lung+3.310.000
115MAGEA6melanoma antigen family A, 6Lung+3.310.000
116FERMT1fermitin family member 1Lung+3.300.000
117KIF2Ckinesin family member 2CLung+3.290.000
118GPIHBP1glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1Lung-3.290.000
119ABI3BPABI family, member 3 (NESH) binding proteinLung-3.290.000
120C16orf89chromosome 16 open reading frame 89Lung-3.290.000
121UBE2Tubiquitin-conjugating enzyme E2T (putative)Lung+3.280.000
122ZBTB16zinc finger and BTB domain containing 16Lung-3.270.000
123ADIRFadipogenesis regulatory factorLung-3.260.000
124HHIPhedgehog interacting proteinLung-3.260.000
125MFAP5microfibrillar associated protein 5Adipose+3.260.003
126CCNA2cyclin A2Lung+3.250.000
127AFF3AF4/FMR2 family, member 3Lung-3.250.000
128SCARA5scavenger receptor class A, member 5 (putative)Lung-3.240.000
129UCHL1ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)Lung+3.230.000
130BUB1BUB1 mitotic checkpoint serine/threonine kinaseLung+3.230.000
131FAM189A2family with sequence similarity 189, member A2Lung-3.220.000
132CA12carbonic anhydrase XIILung+3.220.000
133SIX1SIX homeobox 1Lung+3.220.000
134PITX1paired-like homeodomain 1Lung+3.210.000
135OGNosteoglycinLung-3.210.000
136ID4inhibitor of DNA binding 4, dominant negative helix-loop-helix proteinLung-3.200.000
137SCGB3A1secretoglobin, family 3A, member 1Lung-3.200.000
138FOXM1forkhead box M1Lung+3.190.000
139IL6interleukin 6 (interferon, beta 2)Lung-3.190.000
140GLDNgliomedinLung-3.180.000
141ACADLacyl-CoA dehydrogenase, long chainLung-3.170.000
142CDH3cadherin 3, type 1, P-cadherin (placental)Lung+3.160.000
143PPBPpro-platelet basic protein (chemokine (C-X-C motif) ligand 7)Lung-3.160.000
144PLAC9placenta-specific 9Lung-3.160.000
145SNCAsynuclein, alpha (non A4 component of amyloid precursor)Blood+3.150.000
146HS6ST2heparan sulfate 6-O-sulfotransferase 2Lung+3.140.000
147POSTNperiostin, osteoblast specific factorLung+3.140.000
148NUSAP1nucleolar and spindle associated protein 1Lung+3.140.000
149CD52CD52 moleculeLung-3.130.000
150LEPRleptin receptorLung-3.120.000
151TRIP13thyroid hormone receptor interactor 13Lung+3.100.000
152ECT2epithelial cell transforming 2Lung+3.090.000
153STX11syntaxin 11Lung-3.080.000
154MFAP4microfibrillar-associated protein 4Lung-3.080.000
155GPX3glutathione peroxidase 3 (plasma)Lung-3.070.000
156WDR66WD repeat domain 66Lung+3.070.000
157SPP1secreted phosphoprotein 1Adipose+3.060.000
158DAPL1death associated protein-like 1Lung+3.060.000
159DLC1deleted in liver cancer 1Lung-3.050.000
160SELENBP1selenium binding protein 1Lung-3.050.000
161AK4adenylate kinase 4Lung+3.040.000
162MACROD2MACRO domain containing 2Lung-3.030.000
163CFDcomplement factor D (adipsin)Lung-3.030.000
164ZFP36L2ZFP36 ring finger protein-like 2Liver+3.030.012
165MMP10matrix metallopeptidase 10 (stromelysin 2)Lung+3.030.000
166C1orf116chromosome 1 open reading frame 116Lung-3.030.000
167ALOX5arachidonate 5-lipoxygenaseLung-3.020.000
168TEKTEK tyrosine kinase, endothelialLung-3.020.000
169KIF11kinesin family member 11Lung+3.020.000
170KIF4Akinesin family member 4ALung+3.010.000
171NAPSAnapsin A aspartic peptidaseLung-3.010.000
172SLC1A1solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1Lung-3.010.000
173FLRT3fibronectin leucine rich transmembrane protein 3Lung-3.010.000
174CX3CR1chemokine (C-X3-C motif) receptor 1Lung-3.010.000
175TK1thymidine kinase 1, solubleLung+3.010.000
176PRR11proline rich 11Lung+3.000.000

Search GEO for disease gene expression data for Neural Tube Defects.

Pathways for genes affiliated with Neural Tube Defects

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

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Vitamin B12 Metabolism36
10.1MTRR, MTHFR
210.0MTHFR, CBS
3
Show member pathways
Glycine Metabolism36
glycine biosynthesis I36
folate transformations36
10.0MTR, MTHFD1
4
Show member pathways
cysteine biosynthesis/homocysteine degradation36
10.0CBS, MTR
510.0TCN2, SLC19A1
610.0SNAI2, SCRIB, T
7
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.8MTR, MTHFR, CBS
8
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.8CBS, MTRR, MTR
9
Show member pathways
9.8CBS, MTR, MTRR
10
Show member pathways
thioredoxin pathway36
9.7MTR, CCL2, CBS, MTHFR
119.1TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
12
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.1SLC19A1, TCN2, MTHFD1, MTHFR, MTRR, MTR
13
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
9.1MTR, CBS, TCN2, MTHFD1, MTHFR, MTRR
14
Show member pathways
8.8CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR

Compounds for genes affiliated with Neural Tube Defects

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

(show top 50)    (show all 51)
idCompoundScoreTop Affiliating Genes
1vitamin b-complex, plain4910.5MTRR, MTHFR
2methyl-group4310.5MTR, MTHFR
35-Methyltetrahydrofolic acid2410.4MTR, MTHFR
4Cob(I)alamin2410.4MTRR, MTR
5cob(ii)alamin43 2411.4MTRR, MTR
6ch2h4folate4310.4MTHFD1, MTHFR
7corrinoid4310.3TCN2, MTR
8benazepril43 49 1212.3MTR, MTHFR
95,10-Methylene-THF2410.3MTHFR, MTHFD1
10mercaptopurine49 1211.3SLC19A1, MTHFR
11sulfasalazine28 43 49 1213.3CCL2, MTHFR, SLC19A1
12Pyridoxine24 1211.3CBS, MTHFR
13folic acid49 24 1212.2MTHFR, MTRR, SLC19A1
14adenosylcobalamin43 2411.2MTR, MTHFR, TCN2
15L-Methionine24 1211.2MTR, MTRR
16Tetrahydrofolic acid24 1211.2MTR, MTHFR, MTHFD1
17dihydrofolate4310.1MTHFR, MTR, SLC19A1
18pyridoxal 5-phosphate4310.1CBS, MTHFR, MTR
19cyanocobalamin49 24 1212.1TCN2, MTHFR, MTRR, MTR
20tetrahydrofolate4310.1SLC19A1, MTR, MTRR, MTHFR
21hydroxocobalamin43 1211.1TCN2, MTHFR, MTRR, MTR
22b vitamins4310.0MTR, MTRR, MTHFR, CBS
23betaine43 2411.0CBS, MTHFR, MTRR, MTR
24cyclophosphamide43 49 1212.0MTR, MTHFR, CCL2
2510-formyltetrahydrofolate4310.0MTHFD1, MTHFR, MTR, SLC19A1
26s-adenosylhomocysteine43 2411.0CBS, MTHFR, MTRR, MTR
275,10-methenyltetrahydrofolate4310.0CBS, MTHFD1, MTHFR, MTR
28FAD249.9MTHFR, MTRR, MTR
29cisplatin43 49 59 1212.8CCL2, MTHFR, MTR, SLC19A1
305-methyltetrahydrofolate43 1210.8CBS, MTHFR, MTRR, MTR, SLC19A1
31riboflavin43 24 1211.8MTHFR, MTRR
32methylcobalamin43 2410.8CBS, TCN2, MTHFR, MTRR, MTR
33methylmalonic acid43 2410.8CBS, TCN2, MTHFR, MTRR, MTR
34nadph43 2410.8CCL2, MTHFD1, MTHFR, MTRR, MTR
35s-adenosylmethionine43 24 1211.8CBS, MTHFR, MTRR, MTR, SLC19A1
36aspartate439.7MTR, MTRR, MTHFR, CCL2
37vitamin b6439.7CBS, TCN2, MTHFD1, MTHFR, MTR
38purine43 2410.7CBS, MTHFD1, MTHFR, MTR, SLC19A1
39vitamin b12439.6CBS, TCN2, CCL2, MTHFR, MTRR, MTR
40creatinine439.6MTR, MTHFR, CCL2, TCN2
41glutamate439.5CBS, MTHFR, MTRR, MTR, SLC19A1
42cystathionine439.5MTR, CBS, TCN2, MTHFD1, MTHFR, MTRR
43cobalamin43 2410.5CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR
44thymidylate439.5CBS, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
45methotrexate49 43 1211.5CBS, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
46zinc43 2410.5CBS, MTR, SNAI2, ZIC1, ZIC2, ZIC3
47folate439.3CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR
48methionine439.3CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR
49serine439.2CBS, CCL2, MTHFD1, MTHFR, MTRR, MTR
50homocysteine43 2410.1CBS, TCN2, CCL2, MTHFD1, MTHFR, MTRR

GO Terms for genes affiliated with Neural Tube Defects

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Cellular components related to Neural Tube Defects according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:00057378.9ZIC3, ZIC2, ZIC1, SNAI2, MTRR, CCL2

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

(show all 32)
idNameGO IDScoreTop Affiliating Genes
1lateral sprouting involved in lung morphogenesisGO:006049010.5VANGL2, CELSR1
2planar dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:006048910.5VANGL2, CELSR1
3orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:006048810.5VANGL2, CELSR1
4establishment of body hair planar orientationGO:004810510.5VANGL2, CELSR1
5astrocyte cell migrationGO:004361510.5CCL2, SCRIB
6apical protein localizationGO:004517610.4CELSR1, VANGL2
7establishment of planar polarityGO:000173610.4CELSR1, VANGL2, FUZ
8planar cell polarity pathway involved in neural tube closureGO:009017910.4CELSR1, VANGL2
9post-anal tail morphogenesisGO:003634210.4VANGL2, T
10hair follicle developmentGO:000194210.4FUZ, VANGL2, CELSR1
11homocysteine metabolic processGO:005066710.3MTHFR, CBS
12tetrahydrofolate interconversionGO:003599910.3MTHFR, MTHFD1
13regulation of smoothened signaling pathwayGO:000858910.3ZIC1, FUZ
14wound healingGO:004206010.3SCRIB, VANGL2, CELSR1
15methylationGO:003225910.3MTRR, MTR
16cellular response to fibroblast growth factor stimulusGO:004434410.3CCL2, SNAI2
17response to folic acidGO:005159310.3CBS, MTHFR
18methionine biosynthetic processGO:000908610.2MTHFD1, MTHFR, MTRR
19cobalamin metabolic processGO:000923510.2MTR, MTRR, TCN2
20sulfur amino acid metabolic processGO:000009610.1CBS, MTRR, MTR
21anterior/posterior pattern specificationGO:000995210.1VANGL2, CELSR1, ZIC3, ALX1
22positive regulation of fat cell differentiationGO:004560010.0SNAI2, DACT1
23folic acid metabolic processGO:004665510.0SLC19A1, MTRR, MTHFR, MTHFD1
24brain developmentGO:00074209.9ZIC1, ZIC2, ALX1
25regulation of actin cytoskeleton organizationGO:00329569.9CELSR1, VANGL2
26negative regulation of transcription from RNA polymerase II promoterGO:00001229.8DACT1, T, SNAI2, ALX1
27cellular nitrogen compound metabolic processGO:00346419.8MTR, MTRR, CBS
28positive regulation of transcription, DNA-templatedGO:00458939.8ALX1, ZIC3, ZIC2, ZIC1
29neural tube closureGO:00018439.8ALX1, FUZ, T, SCRIB, VANGL2, CELSR1
30water-soluble vitamin metabolic processGO:00067679.5TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
31vitamin metabolic processGO:00067669.5TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
32small molecule metabolic processGO:00442819.2CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR

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

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:007234110.0CBS, MTHFR
2cobalamin bindingGO:00314199.9TCN2, MTR
3sequence-specific DNA binding transcription factor activityGO:00037009.2ALX1, T, ZIC1, ZIC2, ZIC3
4metal ion bindingGO:00468729.1CBS, TCN2, SNAI2, ZIC1, ZIC2, ZIC3

Products for genes affiliated with Neural Tube Defects

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Sources for Neural Tube Defects

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet