NTDFS
MCID: NRL018
MIFTS: 36

Neural Tube Defects, Folate-Sensitive (NTDFS) malady

Categories: Genetic diseases

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

Aliases & Descriptions for Neural Tube Defects, Folate-Sensitive:

Name: Neural Tube Defects, Folate-Sensitive 54 66
Folate-Sensitive Susceptibility to Neural Tube Defects 24 29
Ntdfs 24 66
Neural Tube Defects, Folate-Sensitive, Susceptibility to 13
Neural Tube Defect, Folate-Sensitive 69
Spina Bifida, Folate-Sensitive 54
Spina Bifida, Folate Sensitive 24
Neural Tube Defects 54

Classifications:



External Ids:

OMIM 54 601634

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... (601634) more...

MalaCards based summary : Neural Tube Defects, Folate-Sensitive, also known as folate-sensitive susceptibility to neural tube defects, is related to myelocystocele and cleft lip, 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 Carbon metabolism. Affiliated tissues include heart.

UniProtKB/Swiss-Prot : 66 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 110)
id Related Disease Score Top Affiliating Genes
1 myelocystocele 29.5 MTHFD1 MTHFR
2 cleft lip 29.3 MTHFR MTR MTRR
3 neural tube defects 12.7
4 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation 12.1
5 vangl1-related neural tube defect 12.1
6 vangl2-related neural tube defect 12.1
7 anencephaly 11.5
8 encephalocele 11.4
9 iniencephaly 11.3
10 birth defects 11.2
11 craniorachischisis 11.2
12 chiari malformation 11.2
13 mthfr thermolabile variant 11.1
14 fryns microphthalmia syndrome 10.9
15 limb-body wall complex 10.9
16 valproate embryopathy, susceptibility to 10.9
17 meningoencephalocele 10.9
18 mthfr gene mutation 10.9
19 down syndrome 10.1
20 x-linked disease 10.1 MTR MTRR
21 autosomal dominant disease 10.1 MTR MTRR
22 orofacial cleft 10.0
23 omphalocele 10.0
24 methylmalonic aciduria and homocystinuria, cblc type 10.0 MTHFD1 MTR
25 ezh2-related overgrowth 10.0 MTR MTRR
26 skeletal muscle regeneration 10.0 MTR MTRR
27 anxiety disorder 10.0 MTHFD1 MTR
28 hydrocephalus 10.0
29 obesity 10.0
30 exencephaly 10.0
31 myh7-related myosin storage myopathy 10.0 MTHFR MTR
32 homocystinuria due to mthfr deficiency 10.0 MTHFR MTR
33 hereditary acrokeratotic poikiloderma, weary type 10.0 MTHFD1 MTHFR
34 posterior meningocele 10.0 MTHFD1 MTHFR
35 pericardial and diaphragmatic defect 10.0 MTHFD1 MTHFR
36 hereditary thrombocytopenia with normal platelets 10.0 MTHFD1 MTHFR
37 thoracolumbosacral spina bifida aperta 10.0 MTHFD1 MTHFR
38 lumbosacral spina bifida aperta 10.0 MTHFD1 MTHFR
39 cervical spina bifida aperta 10.0 MTHFD1 MTHFR
40 mycophenolate mofetil embryopathy 10.0 MTHFD1 MTHFR
41 complication in hemodialysis 10.0 MTHFD1 MTHFR
42 myelomeningocele 10.0
43 intermediate maple syrup urine disease 10.0 MTHFD1 MTHFR
44 46,xx disorder of sex development-anorectal anomalies syndrome 10.0 MTHFD1 MTHFR
45 glycogen storage disease due to liver phosphorylase kinase deficiency 10.0 MTHFD1 MTHFR
46 coenzyme q10 deficiency disease 9.9 MTHFR MTR
47 hyperekplexia 2, autosomal recessive 9.9 MTHFR MTR
48 congenital intrinsic factor deficiency 9.9 MTHFR MTR
49 ophthalmia neonatorum 9.9 MTHFD1 MTHFR
50 borderline glaucoma 9.9 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 by clinical synopsis from OMIM:

601634

Clinical features from OMIM:

601634

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

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

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:

66
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

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
12.07 MTHFD1 MTHFR MTR MTRR
2
Show member pathways
11.75 MTHFR MTR
3
Show member pathways
11.59 MTHFD1 MTHFR MTR MTRR
4
Show member pathways
11.49 MTR MTRR
5
Show member pathways
11.35 MTR MTRR
6
Show member pathways
11.07 MTHFD1 MTHFR MTR MTRR
7 10.66 MTR MTRR
8
Show member pathways
10.03 MTR MTRR

GO Terms for Neural Tube Defects, Folate-Sensitive

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 methylation GO:0032259 9.46 MTR MTRR
3 cellular amino acid biosynthetic process GO:0008652 9.43 MTHFD1 MTR MTRR
4 cobalamin metabolic process GO:0009235 9.4 MTR MTRR
5 tetrahydrofolate interconversion GO:0035999 9.37 MTHFD1 MTHFR
6 folic acid metabolic process GO:0046655 9.33 MTHFD1 MTHFR MTRR
7 sulfur amino acid metabolic process GO:0000096 9.32 MTR MTRR
8 methionine biosynthetic process GO:0009086 9.13 MTHFD1 MTR MTRR
9 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
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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