MCID: NRL018
MIFTS: 44

Neural Tube Defects, Folate-Sensitive

Categories: Genetic diseases

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

MalaCards integrated aliases for Neural Tube Defects, Folate-Sensitive:

Name: Neural Tube Defects, Folate-Sensitive 53 71 28
Neural Tube Defects, Folate-Sensitive, Susceptibility to 53 13
Neural Tube Defect, Folate-Sensitive 72 69
Ntdfs 53 71
Neural Tube Defects, Susceptibility to 53
Ntd, Folate-Sensitive 53
Neural Tube Defects 53

Characteristics:

OMIM:

53
Inheritance:
? autosomal recessive


Classifications:



External Ids:

OMIM 53 601634
SNOMED-CT via HPO 65 253098009
UMLS 69 C1866558

Summaries for Neural Tube Defects, Folate-Sensitive

OMIM : 53 Neural tube defects have a birth incidence of approximately 1 in 1,000 in American Caucasians and are the second most common type of birth defect after congenital heart defects. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly (206500) (Detrait et al., 2005). Women with elevated plasma homocysteine, low folate, or low vitamin B12 (cobalamin) are at increased risk of having a child with a neural tube defect (O'Leary et al., 2005). Motulsky (1996) cited evidence from the Centers for Disease Control ( Anonymous, 1992) that folic acid given before and during the first 4 weeks of pregnancy can prevent 50% or more of neural tube defects. Botto et al. (1999) and Detrait et al. (2005) provided reviews of neural tube defects. De Marco et al. (2006) provided a detailed review of neurulation and the possible etiologies of neural tube defects. (601634)

MalaCards based summary : Neural Tube Defects, Folate-Sensitive, also known as neural tube defects, folate-sensitive, susceptibility to, is related to neural tube defects and anencephaly, and has symptoms including abnormality of metabolism/homeostasis and spinal dysraphism. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Selenium Micronutrient Network. Affiliated tissues include heart, and related phenotype is homeostasis/metabolism.

UniProtKB/Swiss-Prot : 71 Neural tube defects, folate-sensitive: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.

Wikipedia : 72 Neurulation refers to the folding process in vertebrate embryos, which includes the transformation of... more...

Related Diseases for Neural Tube Defects, Folate-Sensitive

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

(show top 50) (show all 127)
# Related Disease Score Top Affiliating Genes
1 neural tube defects 32.3 MTHFD1 MTHFR MTR MTRR PARD3
2 anencephaly 30.6 MTHFD1 MTHFR MTR MTRR PARD3
3 down syndrome 29.5 MTHFR MTRR
4 vitamin b12 deficiency 29.2 MTHFR MTR
5 cleft lip 28.8 MTHFR MTR MTRR
6 homocystinuria 28.7 MTHFR MTR MTRR
7 myelomeningocele 28.7 MTHFD1 MTHFR MTR MTRR
8 neural tube defects, x-linked 12.4
9 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.2
10 encephalocele 11.5
11 iniencephaly 11.4
12 meningocele 11.3
13 craniorachischisis 11.3
14 chiari malformation 11.3
15 fryns microphthalmia syndrome 11.0
16 limb-body wall complex 11.0
17 mthfr gene variant 11.0
18 schisis association 11.0
19 alpha-fetoprotein deficiency 10.3
20 aging 10.2
21 upper thoracic spina bifida cystica 10.1 MTHFD1 MTHFR
22 cervicothoracic spina bifida cystica 10.1 MTHFD1 MTHFR
23 cervical spina bifida cystica 10.1 MTHFD1 MTHFR
24 lumbosacral spina bifida cystica 10.1 MTHFD1 MTHFR
25 orofacial cleft 10.1
26 omphalocele 10.1
27 thoracolumbosacral spina bifida cystica 10.1 MTHFD1 MTHFR
28 total spina bifida cystica 10.1 MTHFD1 MTHFR
29 upper thoracic spina bifida aperta 10.1 MTHFD1 MTHFR
30 thoracolumbosacral spina bifida aperta 10.1 MTHFD1 MTHFR
31 lumbosacral spina bifida aperta 10.1 MTHFD1 MTHFR
32 cervical spina bifida aperta 10.1 MTHFD1 MTHFR
33 cervicothoracic spina bifida aperta 10.1 MTHFD1 MTHFR
34 body mass index quantitative trait locus 11 10.1
35 body mass index quantitative trait locus 9 10.1
36 body mass index quantitative trait locus 8 10.1
37 body mass index quantitative trait locus 7 10.1
38 body mass index quantitative trait locus 12 10.1
39 body mass index quantitative trait locus 14 10.1
40 body mass index quantitative trait locus 18 10.1
41 hydrocephalus 10.1
42 exencephaly 10.1
43 total spina bifida aperta 10.1 MTHFD1 MTHFR
44 blood group, i system 10.0
45 meckel syndrome, type 1 10.0
46 lipomyelomeningocele 10.0
47 placental abruption 10.0 MTHFD1 MTHFR
48 acute lymphoblastic leukemia, childhood 9.9 MTHFD1 MTHFR
49 nondisjunction 9.9 MTHFR MTRR
50 schizophrenia 9.9

Graphical network of the top 20 diseases related to Neural Tube Defects, Folate-Sensitive:



Diseases related to Neural Tube Defects, Folate-Sensitive

Symptoms & Phenotypes for Neural Tube Defects, Folate-Sensitive

Symptoms via clinical synopsis from OMIM:

53
Metabolic:
maternal abnormal homocysteine metabolism.

Lab:
thermolabile form of mthfr

Misc:
increased (7-fold) risk for ntd
folate-sensitive


Clinical features from OMIM:

601634

Human phenotypes related to Neural Tube Defects, Folate-Sensitive:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis 31 HP:0001939
2 spinal dysraphism 31 HP:0010301

MGI Mouse Phenotypes related to Neural Tube Defects, Folate-Sensitive:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.02 MTHFD1 MTHFR MTR MTRR PARD3

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

Search Clinical Trials , NIH Clinical Center for Neural Tube Defects, Folate-Sensitive

Genetic Tests for Neural Tube Defects, Folate-Sensitive

Genetic tests related to Neural Tube Defects, Folate-Sensitive:

# Genetic test Affiliating Genes
1 Neural Tube Defects, Folate-Sensitive 28 MTHFD1 MTHFR MTR MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

MalaCards organs/tissues related to Neural Tube Defects, Folate-Sensitive:

38
Heart

Publications for Neural Tube Defects, Folate-Sensitive

Articles related to Neural Tube Defects, Folate-Sensitive:

(show top 50) (show all 899)
# Title Authors Year
1
Correction to: Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29445915 )
2018
2
Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects. ( 29365368 )
2018
3
Oxidative Stress and Apoptosis in Benzo[a]pyrene-Induced Neural Tube Defects. ( 29309894 )
2018
4
Estimates of global and regional prevalence of neural tube defects for 2015: a systematic analysis. ( 29363759 )
2018
5
Public health failure in the prevention of neural tube defects: time to abandon the tolerable upper intake level of folate. ( 29450103 )
2018
6
Key apoptotic genes APAF1 and CASP9 implicated in recurrent folate-resistant neural tube defects. ( 29358613 )
2018
7
Rare mutations inapoptosis related genes APAF1, CASP9, and CASP3 contribute to human neural tube defects. ( 29352212 )
2018
8
Low carbohydrate diets may increase risk of neural tube defects. ( 29368448 )
2018
9
A public health approach for preventing neural tube defects: folic acid fortification and beyond. ( 29450891 )
2018
10
Low maternal folate concentrations and maternal MTHFR C677T polymorphism are associated with an increased risk for neural tube defects in offspring: a case-control study among Pakistani case and control mothers. ( 29222906 )
2018
11
Comments on "ambient and dosed exposure to quaternary ammonium disinfectants causes neural tube defects in rodents". ( 29388359 )
2018
12
Association of main folate metabolic pathway gene polymorphisms with neural tube defects in Han population of Northern China. ( 29392422 )
2018
13
Should vitamin B<sub>12</sub>status be considered in assessing risk of neural tube defects? ( 29377209 )
2018
14
Letter to the Editor. Family history of neural tube defects. ( 29303457 )
2018
15
Genetic contribution of retinoid-related genes to neural tube defects. ( 29297599 )
2018
16
A targeted sequencing panel identifies rare damaging variants in multiple genes in the cranial neural tube defect, anencephaly. ( 29205322 )
2017
17
Finding the genetic mechanisms of folate deficiency and neural tube defects-Leaving no stone unturned. ( 28944587 )
2017
18
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
19
Protein kinase C-alpha suppresses autophagy and induces neural tube defects via miR-129-2 in diabetic pregnancy. ( 28474670 )
2017
20
Exome analysis in an Estonian multiplex family with neural tube defects-a case report. ( 28721594 )
2017
21
Prevention of neural tube defects and maternal gestational diabetes through the inositol supplementation: preliminary results. ( 28770950 )
2017
22
Are concentrations of alkaline earth elements in maternal hair associated with risk of neural tube defects? ( 28763666 )
2017
23
Papers from the Ninth International Conference on Neural Tube Defects. ( 28398651 )
2017
24
Mediterranean diet, folic acid, and neural tube defects. ( 28818086 )
2017
25
Molecular cytogenetic characterization of a duplication of 15q24.2-q26.2 associated with anencephaly and neural tube defect. ( 28805617 )
2017
26
Fetal DNA hypermethylation in tight junction pathway is associated with neural tube defects: A genome-wide DNA methylation analysis. ( 28059605 )
2017
27
Highlighting recognition, management, and treatment of neural tube defects at various stages of development. ( 28265328 )
2017
28
Altered GNAS imprinting due to folic acid deficiency contributes to poor embryo development and may lead to neural tube defects. ( 29340017 )
2017
29
Association of neural tube defects with gene polymorphisms in one-carbon metabolic pathway. ( 28770393 )
2017
30
Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation. ( 28862178 )
2017
31
Relationship of Methylation within Upper Stream Region of Transcription Starts Site of HOXA5 Gene with Neural Tube Defects. ( 29338823 )
2017
32
Air pollution, neighborhood acculturation factors, and neural tube defects among Hispanic women in California. ( 28398703 )
2017
33
Apoptosis, Expression of PAX3 and P53, and Caspase Signal in Fetuses with Neural Tube Defects. ( 28786179 )
2017
34
Risk factors associated with neural tube defects in infants referred to western Iranian obstetrical centers; 2013-2014. ( 28848641 )
2017
35
Folic acid usage and associated factors in the prevention of neural tube defects among pregnant women in Ethiopia: cross-sectional study. ( 28934941 )
2017
36
Spinal Arteriovenous Vascular Malformations in Patients with Neural Tube Defects. ( 29284599 )
2017
37
The clinical features of paediatric neural tube defects changed in a tertiary care centre between 1997 and 2015. ( 28135771 )
2017
38
Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. ( 28742214 )
2017
39
Use of high frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc-deficient mice. ( 28056489 )
2017
40
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
41
CSF-Based Analysis for Identification of Potential Serum Biomarkers of Neural Tube Defects. ( 28695418 )
2017
42
Surveillance survey of family history in children with neural tube defects. ( 28362184 )
2017
43
A single center study of epidemiology of neural tube defects. ( 28149108 )
2017
44
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
45
Clinical profile of neural tube defects in Sudanese children: Is malaria a risk factor? ( 29213169 )
2017
46
Prevalence of Neural Tube Defects and the Impact of Prenatal Diagnosis in Three Districts of Beijing, China. ( 28464249 )
2017
47
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
48
Homocysteine-induced changes in cell proliferation and differentiation in the chick embryo spinal cord: implications for mechanisms of neural tube defects (NTD). ( 28242235 )
2017
49
The preventive effects of taurine on neural tube defects through the Wnt/PCP-Jnk-dependent pathway. ( 28718066 )
2017
50
Notomelia and related neural tube defects in a baby born in Niger: case report and literature review. ( 28083641 )
2017

Variations for Neural Tube Defects, Folate-Sensitive

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

71
# Symbol AA change Variation ID SNP ID
1 MTHFD1 p.Arg293His VAR_010241 rs34181110
2 MTHFD1 p.Arg653Gln VAR_010251 rs2236225

ClinVar genetic disease variations for Neural Tube Defects, Folate-Sensitive:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MTHFR NM_005957.4(MTHFR): c.665C> T (p.Ala222Val) single nucleotide variant drug response rs1801133 GRCh37 Chromosome 1, 11856378: 11856378
2 MTHFR NM_005957.4(MTHFR): c.1286A> C (p.Glu429Ala) single nucleotide variant drug response rs1801131 GRCh37 Chromosome 1, 11854476: 11854476
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.2348A> G (p.Asp783Gly) single nucleotide variant Pathogenic rs1114167354 GRCh37 Chromosome 10, 34630624: 34630624
5 PARD3 NC_000010.11: g.34546661_34686264del139604 deletion Pathogenic GRCh37 Chromosome 10, 34835589: 34975192

Expression for Neural Tube Defects, Folate-Sensitive

Search GEO for disease gene expression data for Neural Tube Defects, Folate-Sensitive.

Pathways for Neural Tube Defects, Folate-Sensitive

Pathways related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.07 MTHFD1 MTHFR MTR MTRR
2
Show member pathways
11.59 MTHFD1 MTHFR MTR MTRR
3
Show member pathways
11.49 MTR MTRR
4
Show member pathways
11.35 MTR MTRR
5
Show member pathways
11.07 MTHFD1 MTHFR MTR MTRR
6 10.66 MTR MTRR
7
Show member pathways
10.03 MTR MTRR

GO Terms for Neural Tube Defects, Folate-Sensitive

Cellular components related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.02 MTHFD1 MTHFR MTR MTRR PARD3

Biological processes related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.61 MTHFD1 MTHFR MTRR
2 cellular amino acid biosynthetic process GO:0008652 9.43 MTHFD1 MTR MTRR
3 cobalamin metabolic process GO:0009235 9.4 MTR MTRR
4 tetrahydrofolate interconversion GO:0035999 9.37 MTHFD1 MTHFR
5 folic acid metabolic process GO:0046655 9.33 MTHFD1 MTHFR MTRR
6 sulfur amino acid metabolic process GO:0000096 9.32 MTR MTRR
7 methionine biosynthetic process GO:0009086 9.13 MTHFD1 MTR MTRR
8 methionine metabolic process GO:0006555 8.8 MTHFD1 MTHFR MTRR

Molecular functions related to Neural Tube Defects, Folate-Sensitive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.33 MTHFD1 MTHFR MTRR
2 flavin adenine dinucleotide binding GO:0050660 8.96 MTHFR MTRR
3 NADP binding GO:0050661 8.62 MTHFR MTRR

Sources for Neural Tube Defects, Folate-Sensitive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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