NTDS
MCID: NRL016
MIFTS: 68

Neural Tube Defects (NTDS) malady

Genetic diseases, Rare diseases categories
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Summaries for Neural Tube Defects

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MedlinePlus:33 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 based summary: Neural Tube Defects, also known as dysraphism, is related to anencephaly and craniorachischisis, and has symptoms including 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:42 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:3 Neglected Tropical Diseases (NTDs) are a group of parasitic and bacterial diseases that cause substantial illness for more than one billion people globally. Affecting the world's poorest people, NTDs impair physical and cognitive development, contribute to mother and child illness and death, make it difficult to farm or earn a living, and limit productivity in the workplace. As a result, NTDs trap the poor in a cycle of poverty and disease.

Wikipedia:65 Neural tube defects (NTDs) are one of the most common birth defects, affecting over 300,000 births... more...

Descriptions from OMIM:46 601634,182940

Aliases & Classifications for Neural Tube Defects

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Neural Tube Defects, Aliases & Descriptions:

Name: Neural Tube Defects 30 9 42 20 22 46 44 33
Dysraphism 42
 
Ntds 42


Classifications:

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


Related Diseases for Neural Tube Defects

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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
1anencephaly31.8MTHFR, AFP
2craniorachischisis31.3VANGL2
3myelomeningocele31.3MTHFR, CBS
4neural tube defects, folate-sensitive31.2MTR, MTRR
5down syndrome31.1AFP, CBS, MTHFR, MTRR, SLC19A1, MTR
6cleft lip31.0MTR, MTHFR, MTRR, SLC19A1
7gastroschisis30.9AFP
8spina bifida30.9MTR, ZIC2, ZIC1, MTRR, MTHFR, MTHFD1
9vitamin b12 deficiency30.9MTR, TCN2, MTHFR
10glucose intolerance30.7MTR, TCN2
11homocystinuria30.6CBS, TCN2, MTR, MTRR, MTHFR
12hyperhomocysteinemia30.6MTHFR, CBS, MTRR, MTR, SLC19A1
13vascular disease30.6MTHFR, MTRR, CBS, SLC19A1, MTR
14occult spinal dysraphism11.0
15encephalocele10.6
16caudal regression syndrome10.5VANGL1
17strabismus10.5VANGL2
18exencephaly10.5
19iniencephaly10.5
20omphalocele10.5
21homocysteinemia due to mthfr deficiency10.5MTR, MTHFR
22megaloblastic anemia10.5MTR, TCN2
23disorders of intracellular cobalamin metabolism10.5MTRR, MTR
24hydrocephalus10.5
25obesity10.5
26orofacial cleft10.5
27peripheral vascular disease10.4CBS, MTHFR
28congenital heart disease10.4MTHFR, ZIC3
29portal vein thrombosis10.4AFP, MTHFR
30patau syndrome10.4ZIC2, AFP
31homocysteinemia10.4MTHFR, CBS, MTR
32hyperopia10.4VANGL2, VANGL1
33placental abruption10.4MTHFR, AFP
34cerebrovascular disease10.4MTHFR, CBS, MTR
35meningocele10.4
36meckel syndrome10.4
37diabetic embryopathy10.4
38cataract-congenital heart disease-neural tube defect syndrome10.4
39thromboembolism10.4MTHFR, MTR, CBS
40venous thrombosis10.4MTR, MTHFR, CBS
41lipoma10.4
42methylmalonic acidemia10.4MTR, TCN2
43acute lymphoblastic leukemia, childhood10.4MTHFD1, SLC19A1, MTHFR
44pulmonary embolism10.4CBS, MTHFR
45cleft palate10.4SLC19A1, MTHFR, MTR, SNAI2
46folic acid deficiency anemia10.3MTR, SLC19A1, MTHFR, CBS
47schizophrenia10.3
48neuronitis10.3
49hyperglycemia10.3
50lipomyelomeningocele10.3

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:

601634,182940

HPO human phenotypes related to Neural Tube Defects:

(show all 9)
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
9 abnormality of metabolism/homeostasis HP:0001939

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:

32
Brain, Spinal cord, Heart, Testes, Skin, Placenta, Bone marrow, Bone, Monocytes

Animal Models for Neural Tube Defects or affiliated genes

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MGI Mouse Phenotypes related to Neural Tube Defects:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.5SCRIB, VANGL2, VANGL1, ZIC3, FUZ, ALX1
2MP:00053679.3SLC19A1, VANGL2, CBS, SCRIB, T, DACT1
3MP:00053889.2VANGL1, CELSR1, ZIC3, ALX1, CBS, VANGL2
4MP:00107719.2CELSR1, SLC19A1, ZIC2, SNAI2, CBS, T
5MP:00053819.2DACT1, FUZ, T, VANGL2, SNAI2, ZIC3
6MP:00053829.1ALX1, FUZ, ZIC2, SNAI2, CELSR1, VANGL2
7MP:00053919.1FUZ, SCRIB, CBS, VANGL2, CELSR1, ALX1
8MP:00053979.0CBS, CELSR1, SLC19A1, ZIC3, SNAI2, VANGL2
9MP:00053798.9AFP, SLC19A1, FUZ, SNAI2, CBS, SCRIB
10MP:00053858.9T, FUZ, ZIC3, ZIC2, CBS, MTHFD1
11MP:00053908.9VANGL2, SNAI2, T, FUZ, CELSR1, ZIC1
12MP:00053898.7SLC19A1, DACT1, SNAI2, VANGL1, VANGL2, CBS
13MP:00053868.6AFP, ZIC3, ZIC1, SNAI2, T, ZIC2
14MP:00053718.5FUZ, DACT1, T, SCRIB, CBS, VANGL2
15MP:00036318.4VANGL2, DACT1, FUZ, T, VANGL1, CELSR1
16MP:00053768.3MTHFR, MTR, FUZ, T, CBS, VANGL2
17MP:00053808.2ZIC3, ALX1, SLC19A1, ZIC2, DACT1, FUZ
18MP:00053788.0SLC19A1, ALX1, ZIC3, ZIC1, DACT1, T
19MP:00107687.4MTR, SNAI2, ZIC1, ZIC2, MTHFR, MTHFD1

Publications for Neural Tube Defects

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Articles related to Neural Tube Defects:

(show top 50)    (show all 710)
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
Neural tube defects, folic acid and methylation. (24048206)
2013
4
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
5
Genetic analysis of disheveled 2 and disheveled 3 in human neural tube defects. (22892949)
2013
6
Is LMNB1 a susceptibility gene for neural tube defects in humans? (23733478)
2013
7
The amniotic fluid as a source of neural stem cells in the setting of experimental neural tube defects. (22957979)
2013
8
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
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:

64 (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 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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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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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 Metabolism37
10.2MTRR, MTHFR
210.1MTHFR, CBS
3
Show member pathways
Glycine Metabolism37
glycine biosynthesis I37
folate transformations37
10.0MTR, MTHFD1
4
Show member pathways
cysteine biosynthesis/homocysteine degradation37
10.0MTR, CBS
510.0SLC19A1, TCN2
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.9CBS, MTR, MTHFR
7
Show member pathways
thioredoxin pathway37
9.9CBS, MTHFR, MTR
89.8AFP, SCRIB, SNAI2
9
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.8CBS, MTR, MTRR
10
Show member pathways
9.8MTR, MTRR, CBS
119.7SCRIB, SNAI2, AFP, T
129.2MTHFR, TCN2, MTRR, MTR, SLC19A1, MTHFD1
13
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.2SLC19A1, TCN2, MTHFD1, MTHFR, MTRR, MTR
14
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
9.2MTR, CBS, TCN2, MTHFD1, MTHFR, MTRR
15
Show member pathways
9.0CBS, 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/GeneDecks:

(show top 50)    (show all 57)
idCompoundScoreTop Affiliating Genes
1vitamin b-complex, plain5010.5MTHFR, MTRR
25-Methyltetrahydrofolic acid2410.5MTR, MTHFR
3methyl-group4410.5MTHFR, MTR
4cob(ii)alamin44 2411.4MTR, MTRR
5ch2h4folate4410.4MTHFR, MTHFD1
6Cob(I)alamin2410.4MTRR, MTR
7corrinoid4410.4MTR, TCN2
85,10-Methylene-THF2410.4MTHFD1, MTHFR
9Pyridoxine24 1111.3MTHFR, CBS
10benazepril44 50 1112.3MTR, MTHFR
11mercaptopurine50 1111.3SLC19A1, MTHFR
12adenosylcobalamin44 2411.3MTR, MTHFR, TCN2
13folic acid50 24 1112.3SLC19A1, MTRR, MTHFR
14Tetrahydrofolic acid24 1111.3MTR, MTHFR, MTHFD1
15dihydrofolate4410.2SLC19A1, MTR, MTHFR
16L-Methionine24 1111.2MTRR, MTR
17pyridoxal 5-phosphate4410.2MTR, CBS, MTHFR
18cyanocobalamin50 24 1112.1TCN2, MTHFR, MTRR, MTR
19tetrahydrofolate4410.1MTHFR, MTRR, SLC19A1, MTR
20hydroxocobalamin44 1111.1TCN2, MTHFR, MTRR, MTR
21b vitamins4410.1CBS, MTHFR, MTRR, MTR
22betaine44 2411.1CBS, MTR, MTRR, MTHFR
23irinotecan44 50 1112.1AFP, MTHFR, SLC19A1
2410-formyltetrahydrofolate4410.1MTR, SLC19A1, MTHFR, MTHFD1
25s-adenosylhomocysteine44 2411.1CBS, MTHFR, MTR, MTRR
26carboplatin44 50 1112.1SLC19A1, MTHFR, AFP
275,10-methenyltetrahydrofolate4410.1CBS, MTR, MTHFR, MTHFD1
28vincristine44 50 1111.9AFP, SLC19A1, MTR
295-methyltetrahydrofolate44 1110.9MTRR, MTHFR, SLC19A1, CBS, MTR
30methylcobalamin44 2410.9MTR, CBS, TCN2, MTHFR, MTRR
31methylmalonic acid44 2410.9TCN2, MTRR, MTR, CBS, MTHFR
32carbon449.9MTHFR, MTR, AFP
33s-adenosylmethionine44 24 1111.8MTR, MTRR, CBS, MTHFR, SLC19A1
34vitamin b6449.8TCN2, CBS, MTR, MTHFR, MTHFD1
35purine44 2410.8SLC19A1, MTR, MTHFR, MTHFD1, CBS
36nadph44 2410.7MTR, MTHFR, MTHFD1, MTRR
37cystathionine449.6CBS, MTR, MTRR, MTHFR, TCN2, MTHFD1
38cobalamin44 2410.6MTHFD1, TCN2, CBS, MTHFR, MTRR, MTR
39copper44 2410.6AFP, CBS, MTR
40thymidylate449.6MTRR, CBS, MTHFD1, MTHFR, SLC19A1, MTR
41vitamin b12449.6AFP, TCN2, MTR, MTHFR, CBS, MTRR
42alanine449.5SLC19A1, MTRR, MTHFR, ZIC2, AFP
43glutamate449.5MTRR, MTHFR, CBS, AFP, MTR, SLC19A1
44homocysteine44 2410.4MTR, CBS, TCN2, MTHFD1, MTRR, MTHFR
45methionine449.4SLC19A1, MTHFR, TCN2, MTRR, MTR, CBS
46methotrexate50 44 1111.3MTHFD1, MTR, AFP, CBS, SLC19A1, MTHFR
47cisplatin44 50 61 1112.3MTR, AFP, MTHFR, SLC19A1
48zinc44 2410.3ZIC2, AFP, CBS, MTR, SNAI2, ZIC1
49serine449.2MTHFR, SLC19A1, AFP, CBS, MTHFD1, MTRR
50folate449.1MTHFD1, TCN2, MTHFR, AFP, SLC19A1, MTRR

GO Terms for genes affiliated with Neural Tube Defects

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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
2establishment of body hair planar orientationGO:04810510.5VANGL2, CELSR1
3planar dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048910.5VANGL2, CELSR1
4orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesisGO:06048810.5CELSR1, VANGL2
5apical protein localizationGO:04517610.4VANGL2, CELSR1
6planar cell polarity pathway involved in neural tube closureGO:09017910.4CELSR1, VANGL2
7establishment of planar polarityGO:00173610.4FUZ, VANGL2, CELSR1
8homocysteine metabolic processGO:05066710.4MTHFR, CBS
9tetrahydrofolate interconversionGO:03599910.4MTHFD1, MTHFR
10hair follicle developmentGO:00194210.3VANGL2, FUZ, CELSR1
11response to folic acidGO:05159310.3CBS, MTHFR
12post-anal tail morphogenesisGO:03634210.3VANGL2, T
13methylationGO:03225910.3MTR, MTRR
14regulation of smoothened signaling pathwayGO:00858910.3ZIC1, FUZ
15wound healingGO:04206010.3SCRIB, VANGL2, CELSR1
16methionine biosynthetic processGO:00908610.3MTHFD1, MTHFR, MTRR
17SMAD protein signal transductionGO:06039510.2T, AFP
18cobalamin metabolic processGO:00923510.2MTRR, MTR, TCN2
19sulfur amino acid metabolic processGO:00009610.2CBS, MTRR, MTR
20anterior/posterior pattern specificationGO:00995210.1VANGL2, CELSR1, ZIC3, ALX1
21folic acid metabolic processGO:04665510.0MTHFD1, MTHFR, MTRR, SLC19A1
22positive regulation of fat cell differentiationGO:04560010.0SNAI2, DACT1
23brain developmentGO:00742010.0ZIC1, ZIC2, ALX1
24regulation of actin cytoskeleton organizationGO:0329569.9CELSR1, VANGL2
25cellular nitrogen compound metabolic processGO:0346419.8MTR, CBS, MTRR
26positive regulation of transcription, DNA-templatedGO:0458939.8ZIC2, ALX1, ZIC3, ZIC1
27negative regulation of transcription from RNA polymerase II promoterGO:0001229.8DACT1, T, SNAI2, ALX1
28neural tube closureGO:0018439.8CELSR1, T, SCRIB, VANGL2, ZIC2, ALX1
29water-soluble vitamin metabolic processGO:0067679.6TCN2, MTRR, SLC19A1, MTHFD1, MTR, MTHFR
30vitamin metabolic processGO:0067669.6SLC19A1, MTR, MTRR, MTHFR, MTHFD1, TCN2
31small molecule metabolic processGO:0442819.3MTR, MTRR, SLC19A1, MTHFR, CBS, TCN2

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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  • Antibodies
  • Proteins
  • Lysates

Sources for Neural Tube Defects

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet