NTDS
MCID: NRL016
MIFTS: 77

Neural Tube Defects (NTDS) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Neural Tube Defects

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44NIH Rare Diseases, 35MedlinePlus, 4CDC, 66Wikipedia, 48OMIM, 34MalaCards
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MedlinePlus:35 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

MalaCards: Neural Tube Defects, also known as isolated spina bifida, is related to anencephaly and spina bifida, and has symptoms including spina bifida, arnold-chiari anomaly and encephalocele/exencephaly. An important gene associated with Neural Tube Defects is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Folate Metabolism and Folate-Alcohol and Cancer Pathway. The compounds "vitamin b-complex, plain" and 5-Methyltetrahydrofolic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and heart, and related mouse phenotypes are hearing/vestibular/ear and renal/urinary system.

NIH Rare Diseases:44 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

CDC:4 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.

Wikipedia:66 Neural tube defects (NTDs) are one of the most common birth defects, affecting over 300,000 births... more...

Description from OMIM:48 182940,301410,601634

Aliases & Classifications for Neural Tube Defects

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44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 35MedlinePlus, 50Orphanet, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 27ICD10 via Orphanet
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Related Diseases for Neural Tube Defects

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18GeneCards, 19GeneDecks
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Diseases in the Neural Tube Defects family:

Vangl1-Related Neural Tube Defect Vangl2-Related Neural Tube Defect

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

(show top 50)    (show all 137)
idRelated DiseaseScoreTop Affiliating Genes
1anencephaly31.2MTHFR, AFP
2spina bifida31.1MTR, ZIC2, ZIC1, MTRR, MTHFR, MTHFD1
3down syndrome30.8AFP, CBS, MTHFR, MTRR, SLC19A1, MTR
4myelomeningocele30.8MTHFR, CBS
5craniorachischisis30.6VANGL2
6neural tube defects, folate-sensitive30.6MTR, MTRR
7gastroschisis30.4AFP
8vitamin b12 deficiency30.4MTR, TCN2, MTHFR
9cleft lip30.3MTR, MTHFR, MTRR, SLC19A1
10glucose intolerance30.3MTR, TCN2
11homocystinuria30.3CBS, TCN2, MTR, MTRR, MTHFR
12hyperhomocysteinemia30.3MTHFR, CBS, MTRR, MTR, SLC19A1
13vascular disease30.3MTHFR, MTRR, CBS, SLC19A1, MTR
14occult spinal dysraphism10.9
15encephalocele10.6
16encephaloceles10.5
17omphalocele10.5
18exencephaly10.5
19iniencephaly10.5
20hydrocephalus10.4
21obesity10.4
22orofacial cleft10.4
23meningocele10.4
24meckel syndrome10.4
25diabetic embryopathy10.4
26cataract-congenital heart disease-neural tube defect syndrome10.4
27lipoma10.3
28neuronitis10.3
29hyperglycemia10.3
30schizophrenia10.3
31lipomyelomeningocele10.3
32spina bifida occulta10.3
33vangl1-related neural tube defect10.3
34vangl2-related neural tube defect10.3
35abdominal wall defect10.3
36spina bifida aperta10.2
37spinal cord lipoma10.2
38trachoma10.2
39schistosomiasis10.2
40imperforate anus10.2
41neurogenic bladder10.2
42cervicitis10.2
43polydactyly10.1
44holoprosencephaly10.1
45choroiditis10.1
46cartilage-hair hypoplasia10.1
47syndactyly10.1
48arachnoiditis10.1
49spondylocostal dysostosis10.1
50congenital diaphragmatic hernia10.1

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

182940

Clinical features from OMIM:

182940,301410,601634

Symptoms:

50 (show all 25)
  • spina bifida
  • arnold-chiari anomaly
  • encephalocele/exencephaly
  • anencephaly/acrania
  • facial cleft
  • myelomeningocele
  • syringomelia
  • meningocele
  • vertebral segmentation anomaly/hemivertebrae
  • motor deficit/trouble
  • hypertonia/spasticity/rigidity/stiffness
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sphincter dysfunction
  • hydrocephaly
  • hypotonia
  • early death/lethality
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • short stature/dwarfism/nanism
  • sensitive trouble/deficit
  • anomalies of the ribs
  • congenital cardiac anomaly/malformation/cardiopathy
  • impotence/painful erection/priapism/erection troubles
  • talipes-varus/metatarsal varus
  • scoliosis

Drugs & Therapeutics for Neural Tube Defects

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Neural Tube Defects

Drug clinical trials:

Search ClinicalTrials for Neural Tube Defects

Search NIH Clinical Center for Neural Tube Defects

Search CenterWatch for Neural Tube Defects

Genetic Tests for Neural Tube Defects

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21GeneTests, 23GTR
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Genetic tests related to Neural Tube Defects:

id Genetic test Affiliating Genes
1 Neural Tube Defect21 23

Anatomical Context for Neural Tube Defects

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34MalaCards
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MalaCards organs/tissues related to Neural Tube Defects:

34
Brain, Spinal cord, Heart, Testes, Skin, Placenta, Monocytes, Bone, Bone marrow

Animal Models for Neural Tube Defects or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Neural Tube Defects:

38 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5FUZ, SCRIB, VANGL2, VANGL1, CELSR1, ZIC3
2MP:00053679.3DACT1, T, SCRIB, CBS, VANGL2, SLC19A1
3MP:00053889.2FUZ, SCRIB, CBS, VANGL2, VANGL1, CELSR1
4MP:00107719.2T, CBS, CELSR1, MTHFR, SNAI2, ZIC2
5MP:00053819.2DACT1, FUZ, T, SCRIB, VANGL2, SNAI2
6MP:00053829.1FUZ, T, CBS, VANGL2, CELSR1, SNAI2
7MP:00053919.1FUZ, SCRIB, CBS, VANGL2, CELSR1, MTHFR
8MP:00053979.0VANGL2, CELSR1, MTHFD1, SNAI2, ZIC3, SLC19A1
9MP:00053798.9FUZ, AFP, SCRIB, CBS, SNAI2, SLC19A1
10MP:00053858.9DACT1, FUZ, T, CBS, VANGL2, VANGL1
11MP:00053908.9DACT1, FUZ, T, VANGL2, CELSR1, MTHFR
12MP:00053898.7SCRIB, AFP, T, DACT1, CBS, VANGL2
13MP:00053868.6T, AFP, CBS, VANGL2, CELSR1, SNAI2
14MP:00053718.5ALX1, DACT1, FUZ, T, SCRIB, CBS
15MP:00036318.4VANGL1, VANGL2, SCRIB, T, FUZ, DACT1
16MP:00053768.3VANGL2, CBS, AFP, T, FUZ, CELSR1
17MP:00053808.2VANGL2, CBS, SCRIB, T, FUZ, DACT1
18MP:00053788.0VANGL1, VANGL2, CBS, SCRIB, T, DACT1
19MP:00107687.4VANGL1, VANGL2, CBS, SCRIB, AFP, T

Publications for Neural Tube Defects

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53PubMed
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Articles related to Neural Tube Defects:

(show top 50)    (show all 686)
idTitleAuthorsYear
1
Association between VANGL1 Gene Polymorphisms and Neural Tube Defects. (24407469)
2014
2
Neural tube defects, folic acid and methylation. (24048206)
2013
3
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
4
Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects. (22892949)
2013
5
Is LMNB1 a susceptibility gene for neural tube defects in humans? (23733478)
2013
6
The amniotic fluid as a source of neural stem cells in the setting of experimental neural tube defects. (22957979)
2013
7
Knowledge and periconceptional use of folic acid for the prevention of neural tube defects in ethnic communities in the United Kingdom: systematic review and meta-analysis. (23873812)
2013
8
A GCH1 haplotype and risk of neural tube defects in the National Birth Defects Prevention Study. (23059057)
2012
9
Multiple neural tube defects in a child: A rare developmental anomaly. (23372964)
2012
10
Standardized Procedural Practices of the Ontario Prenatal Screening Program for aneuploidies and open neural tube defects. (22732525)
2012
11
Serum ischemia modified albumin levels in pregnancies with neural tube defects. (22324268)
2012
12
Spinal neural tube defects in Lagos University Teaching Hospital, Nigeria. (23175875)
2012
13
Association of selected persistent organic pollutants in the placenta with the risk of neural tube defects. (21768370)
2011
14
Mutations in the planar cell polarity gene, Fuzzy, are associated with neural tube defects in humans. (21840926)
2011
15
Policy statement on folic acid and neural tube defects. (21552133)
2011
16
Importance of including all pregnancy outcomes to reduce bias in epidemiologic studies of neural tube defects--Texas, 1999 to 2005. (21290567)
2011
17
The emerging role of epigenetic mechanisms in the etiology of neural tube defects. (21613818)
2011
18
Gender-dependent differences in the incidence of ochratoxin A-induced neural tube defects in the Pdn/Pdn mouse. (20201966)
2010
19
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
20
Recent perspectives on the genetic background of neural tube defects with special regard to iniencephaly. (19379086)
2009
21
Insights into metabolic mechanisms underlying folate-responsive neural tube defects: a minireview. (19180567)
2009
22
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
23
Neural tube defects and herbal medicines containing lead: a possible relationship. (19028023)
2009
24
Thrombophilia-associated gene mutations in women with pregnancies complicated by fetal neural tube defects. (18068170)
2008
25
Syndromes, disorders and maternal risk factors associated with neural tube defects (IV). (18603497)
2008
26
The hair collar sign as a marker for neural tube defects. (17461809)
2007
27
Health literacy and patient understanding of screening tests for aneuploidy and neural tube defects. (17345585)
2007
28
Vitamin B12 and the risk of neural tube defects in a folic-acid-fortified population. (17474166)
2007
29
Reduced folate carrier gene is a risk factor for neural tube defects in a Chinese population. (15799025)
2005
30
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
31
Haplotype-dependent binding of nuclear proteins to the promoter of the neural tube defects-associated platelet-derived growth factor alpha-receptor gene. (16126374)
2005
32
Gene-gene interaction in folate-related genes and risk of neural tube defects in a UK population. (15060097)
2004
33
Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family. (15456783)
2004
34
Promoter haplotype combinations for the human PDGFRA gene are associated with risk of neural tube defects. (14741194)
2004
35
Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects. (15306729)
2004
36
Single nucleotide polymorphisms in the transcobalamin gene: relationship with transcobalamin concentrations and risk for neural tube defects. (12107818)
2002
37
Human T and risk for neural tube defects. (11897834)
2002
38
A novel mutation in the gene encoding noggin is not causative in human neural tube defects. (12420790)
2002
39
Rudimentary meningocele: remnant of a neural tube defect? (11176660)
2001
40
Neural tube defects in the Asir Region of Saudi Arabia. (17264584)
2001
41
Multicentric study of efficacy of periconceptional folic acid containing vitamin supplementation in prevention of open neural tube defects from India. (11247198)
2000
42
Heterotaxy-neural tube defect and holoprosencephaly occuring independently in two sib fetuses. (10340655)
1999
43
Molecular genetic analysis of human folate receptors in neural tube defects. (10234517)
1999
44
Methionine synthase: high-resolution mapping of the human gene and evaluation as a candidate locus for neural tube defects. (10444343)
1999
45
Neurofibromin deficiency in mice causes exencephaly and is a modifier for Splotch neural tube defects. (10419687)
1999
46
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
47
Association of the 677C-->T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects. (10190266)
1999
48
Identical twins with Weissenbacher-ZweymA1ller syndrome and neural tube defect. (8456835)
1993
49
High levels of maternal serum alpha-fetoprotein and human chorionic gonadotrophins leading to the diagnosis of combined neural tube defect and partial mole. (1377390)
1992
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Neural Tube Defects:

65 (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:

1
id Gene Name 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
3FUZNM_025129.4(FUZ): c.115C> T (p.Pro39Ser)single nucleotide variantPathogenicrs387907204GRCh37Chr 19, 50315990: 50315990
4FUZNM_025129.4(FUZ): c.1060G> T (p.Asp354Tyr)single nucleotide variantPathogenicrs139365610GRCh37Chr 19, 50310605: 50310605
5FUZFUZZY, ARG404GLUsingle nucleotide variantPathogenic
6VANGL2NM_020335.2(VANGL2): c.1057C> T (p.Arg353Cys)single nucleotide variantPathogenicrs267607167GRCh37Chr 1, 160390961: 160390961
7VANGL2NM_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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neural Tube Defects

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

Pathways for genes affiliated with Neural Tube Defects

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB, 5Cell Signaling Technology, 61Thomson Reuters
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Pathways related to Neural Tube Defects according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Vitamin B12 Metabolism39
10.2MTRR, MTHFR
210.1CBS, MTHFR
3
Show member pathways
Glycine Metabolism39
glycine biosynthesis I39
folate transformations39
10.0MTR, MTHFD1
4
Show member pathways
cysteine biosynthesis/homocysteine degradation39
10.0MTR, CBS
510.0SLC19A1, TCN2
6
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.9MTR, MTHFR, CBS
7
Show member pathways
thioredoxin pathway39
9.9CBS, MTHFR, MTR
89.8AFP, SCRIB, SNAI2
9
Show member pathways
creatine-phosphate biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.8MTR, MTRR, CBS
10
Show member pathways
9.8MTR, MTRR, CBS
119.7T, AFP, SCRIB, SNAI2
129.2TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
13
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
9.2TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
14
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.2MTR, MTRR, MTHFR, MTHFD1, TCN2, CBS
15
Show member pathways
9.0CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR

Compounds for genes affiliated with Neural Tube Defects

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52PharmGKB, 25HMDB, 46Novoseek, 12DrugBank, 62Tocris Bioscience
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Compounds related to Neural Tube Defects according to GeneCards/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1vitamin b-complex, plain5210.5MTHFR, MTRR
25-Methyltetrahydrofolic acid2510.5MTHFR, MTR
3methyl-group4610.5MTHFR, MTR
4ch2h4folate4610.4MTHFD1, MTHFR
5Cob(I)alamin2510.4MTRR, MTR
6cob(ii)alamin46 2511.4MTRR, MTR
7corrinoid4610.4TCN2, MTR
85,10-Methylene-THF2510.4MTHFR, MTHFD1
9Pyridoxine25 1211.3CBS, MTHFR
10benazepril46 52 1212.3MTR, MTHFR
11mercaptopurine52 1211.3SLC19A1, MTHFR
12adenosylcobalamin46 2511.3MTR, MTHFR, TCN2
13folic acid52 25 1212.3MTHFR, MTRR, SLC19A1
14Tetrahydrofolic acid25 1211.3MTR, MTHFR, MTHFD1
15dihydrofolate4610.2MTHFR, MTR, SLC19A1
16L-Methionine25 1211.2MTR, MTRR
17pyridoxal 5-phosphate4610.2CBS, MTHFR, MTR
18cyanocobalamin52 25 1212.1TCN2, MTHFR, MTRR, MTR
19tetrahydrofolate4610.1MTHFR, MTRR, MTR, SLC19A1
20hydroxocobalamin46 1211.1TCN2, MTHFR, MTRR, MTR
21b vitamins4610.1CBS, MTHFR, MTRR, MTR
22betaine46 2511.1MTR, MTRR, MTHFR, CBS
23irinotecan46 52 1212.1SLC19A1, MTHFR, AFP
2410-formyltetrahydrofolate4610.1MTHFD1, MTHFR, MTR, SLC19A1
25s-adenosylhomocysteine46 2511.1CBS, MTHFR, MTRR, MTR
26carboplatin46 52 1212.1AFP, MTHFR, SLC19A1
275,10-methenyltetrahydrofolate4610.1CBS, MTHFD1, MTHFR, MTR
28vincristine46 52 1211.9AFP, MTR, SLC19A1
295-methyltetrahydrofolate46 1210.9CBS, MTHFR, MTRR, MTR, SLC19A1
30methylcobalamin46 2510.9CBS, TCN2, MTHFR, MTRR, MTR
31methylmalonic acid46 2510.9CBS, TCN2, MTHFR, MTRR, MTR
32carbon469.9MTR, MTHFR, AFP
33s-adenosylmethionine46 25 1211.8CBS, MTHFR, MTRR, MTR, SLC19A1
34vitamin b6469.8CBS, TCN2, MTHFD1, MTHFR, MTR
35purine46 2510.8CBS, MTHFD1, MTHFR, MTR, SLC19A1
36nadph46 2510.7MTHFD1, MTHFR, MTRR, MTR
37cystathionine469.6MTR, MTRR, MTHFR, MTHFD1, TCN2, CBS
38cobalamin46 2510.6CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR
39copper46 2510.6MTR, CBS, AFP
40thymidylate469.6CBS, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
41vitamin b12469.6AFP, CBS, TCN2, MTHFR, MTRR, MTR
42alanine469.5AFP, MTHFR, MTRR, ZIC2, SLC19A1
43glutamate469.5AFP, CBS, MTHFR, MTRR, MTR, SLC19A1
44homocysteine46 2510.4CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR
45methionine469.4CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR
46methotrexate52 46 1211.3AFP, CBS, MTHFD1, MTHFR, MTRR, MTR
47cisplatin46 52 62 1212.3AFP, MTHFR, MTR, SLC19A1
48zinc46 2510.3AFP, CBS, MTR, SNAI2, ZIC1, ZIC2
49serine469.2AFP, CBS, MTHFD1, MTHFR, MTRR, MTR
50folate469.1AFP, CBS, TCN2, MTHFD1, MTHFR, MTRR

GO Terms for genes affiliated with Neural Tube Defects

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17Gene Ontology
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Cellular components related to Neural Tube Defects according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057378.8ZIC3, ZIC2, ZIC1, SNAI2, MTRR, AFP

Biological processes related to Neural Tube Defects according to GeneCards/GeneDecks:

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1lateral sprouting involved in lung morphogenesisGO:06049010.5VANGL2, CELSR1
2planar dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048910.5VANGL2, CELSR1
3orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048810.5VANGL2, CELSR1
4establishment of body hair planar orientationGO:04810510.5VANGL2, CELSR1
5apical protein localizationGO:04517610.4CELSR1, VANGL2
6planar cell polarity pathway involved in neural tube closureGO:09017910.4CELSR1, VANGL2
7establishment of planar polarityGO:00173610.4CELSR1, VANGL2, FUZ
8homocysteine metabolic processGO:05066710.4MTHFR, CBS
9tetrahydrofolate interconversionGO:03599910.4MTHFR, MTHFD1
10hair follicle developmentGO:00194210.3FUZ, VANGL2, CELSR1
11response to folic acidGO:05159310.3CBS, MTHFR
12post-anal tail morphogenesisGO:03634210.3VANGL2, T
13methylationGO:03225910.3MTR, MTRR
14regulation of smoothened signaling pathwayGO:00858910.3FUZ, ZIC1
15wound healingGO:04206010.3SCRIB, VANGL2, CELSR1
16methionine biosynthetic processGO:00908610.3MTHFD1, MTHFR, MTRR
17SMAD protein signal transductionGO:06039510.2T, AFP
18cobalamin metabolic processGO:00923510.2MTR, MTRR, TCN2
19sulfur amino acid metabolic processGO:00009610.2CBS, MTRR, MTR
20regulation of actin cytoskeleton organizationGO:03295610.2CELSR1, VANGL2
21anterior/posterior pattern specificationGO:00995210.1VANGL2, CELSR1, ZIC3, ALX1
22folic acid metabolic processGO:04665510.0SLC19A1, MTRR, MTHFR, MTHFD1
23positive regulation of fat cell differentiationGO:04560010.0SNAI2, DACT1
24brain developmentGO:00742010.0ALX1, ZIC2, ZIC1
25cellular nitrogen compound metabolic processGO:0346419.8CBS, MTRR, MTR
26positive regulation of transcription, DNA-templatedGO:0458939.8ZIC1, ZIC2, ZIC3, ALX1
27neural tube closureGO:0018439.8ALX1, FUZ, T, SCRIB, VANGL2, CELSR1
28water-soluble vitamin metabolic processGO:0067679.6TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
29vitamin metabolic processGO:0067669.6TCN2, MTHFD1, MTHFR, MTRR, MTR, SLC19A1
30negative regulation of transcription from RNA polymerase II promoterGO:0001229.5ALX1, SNAI2, T, DACT1
31small molecule metabolic processGO:0442819.3CBS, TCN2, MTHFD1, MTHFR, MTRR, MTR

Molecular functions related to Neural Tube Defects according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.1MTHFR, CBS
2cobalamin bindingGO:0314199.9MTR, TCN2
3sequence-specific DNA binding transcription factor activityGO:0037009.5ALX1, ZIC3, ZIC2, ZIC1, T
4metal ion bindingGO:0468728.6AFP, CBS, TCN2, SNAI2, ZIC1, ZIC2

Products for genes affiliated with Neural Tube Defects

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Sources for Neural Tube Defects

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet