MCID: NRL018
MIFTS: 37

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 54 71 29
Ntdfs 24 71
Neural Tube Defects, Folate-Sensitive, Susceptibility to 13
Folate-Sensitive Susceptibility to Neural Tube Defects 24
Neural Tube Defect, Folate-Sensitive 69
Spina Bifida, Folate-Sensitive 54
Spina Bifida, Folate Sensitive 24
Neural Tube Defects 54

Characteristics:

OMIM:

54
Inheritance:
? autosomal recessive


Classifications:



External Ids:

OMIM 54 601634
SNOMED-CT via HPO 65 253098009

Summaries for Neural Tube Defects, Folate-Sensitive

OMIM : 54
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 ntdfs, is related to neural tube defects and occipital encephalocele, and has symptoms including spinal dysraphism and abnormality of metabolism/homeostasis. 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 Sulfur amino acid metabolism. 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.

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 102)
id Related Disease Score Top Affiliating Genes
1 neural tube defects 31.6 MTHFD1 MTHFR MTR MTRR PARD3
2 occipital encephalocele 29.7 MTHFD1 MTHFR
3 myelocystocele 29.7 MTHFD1 MTHFR
4 homocystinuria 28.8 MTHFR MTR
5 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.1
6 vangl2-related neural tube defect 12.1
7 vangl1-related neural tube defect 12.1
8 anencephaly 11.5
9 encephalocele 11.4
10 iniencephaly 11.3
11 birth defects 11.2
12 meningocele 11.2
13 chiari malformation 11.2
14 craniorachischisis 11.2
15 mthfr thermolabile variant 11.1
16 limb-body wall complex 10.9
17 fryns microphthalmia syndrome 10.9
18 meningoencephalocele 10.9
19 mthfr gene mutation 10.9
20 schisis association 10.9
21 thoracolumbosacral spina bifida cystica 10.1 MTHFD1 MTHFR
22 upper thoracic spina bifida aperta 10.1 MTHFD1 MTHFR
23 cranial meningocele 10.1 MTHFD1 MTHFR
24 phakomatosis pigmentokeratotica 10.1 MTHFD1 MTHFR
25 posterior meningocele 10.1 MTHFD1 MTHFR
26 closed iniencephaly 10.1 MTHFD1 MTHFR
27 spina bifida aperta 10.1 MTHFD1 MTHFR
28 down syndrome 10.1
29 total spina bifida aperta 10.1 MTHFD1 MTHFR
30 intraocular medulloepithelioma 10.1 MTHFD1 MTHFR
31 intermediate maple syrup urine disease 10.1 MTHFD1 MTHFR
32 orofacial cleft 10.1
33 omphalocele 10.1
34 hydrocephalus 10.0
35 obesity 10.0
36 exencephaly 10.0
37 myelomeningocele 10.0
38 lipomyelomeningocele 9.9
39 congenital intrinsic factor deficiency 9.9 MTR MTRR
40 x-linked disease 9.9 MTR MTRR
41 schizophrenia 9.8
42 abdominal wall defect 9.8
43 hyperglycemia 9.8
44 spina bifida occulta 9.8
45 gastroschisis 9.8
46 neuronitis 9.8
47 cleft lip 9.8
48 methylmalonic aciduria and homocystinuria, cblc type 9.8 MTHFD1 MTR
49 factor v leiden thrombophilia 9.8 MTR MTRR
50 homocystinuria due to mthfr deficiency 9.7 MTHFR MTR

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:

54

Lab:
thermolabile form of mthfr

Metabolic:
maternal abnormal homocysteine metabolism.

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


Clinical features from OMIM:

601634

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

32
id Description HPO Frequency HPO Source Accession
1 spinal dysraphism 32 HP:0010301
2 abnormality of metabolism/homeostasis 32 HP:0001939

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

44
id 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:

id Genetic test Affiliating Genes
1 Neural Tube Defects, Folate-Sensitive 29
2 Folate-Sensitive Susceptibility to Neural Tube Defects 24 MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

39
Heart

Publications for Neural Tube Defects, Folate-Sensitive

Variations for Neural Tube Defects, Folate-Sensitive

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

71
id 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
id 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.87 MTHFD1 MTHFR MTR MTRR
2
Show member pathways
11.45 MTR MTRR
3
Show member pathways
11.3 MTR MTRR
4
Show member pathways
11.07 MTHFD1 MTHFR MTR MTRR
5 10.6 MTR MTRR
6
Show member pathways
9.93 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:

id 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:

id 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:

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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