MCID: NRL018
MIFTS: 36

Neural Tube Defects, Folate-Sensitive malady

Category: Genetic diseases (common)

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

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

Name: Neural Tube Defects, Folate-Sensitive 52 70
Folate-Sensitive Susceptibility to Neural Tube Defects 24 27
Ntdfs 24 70
Neural Tube Defects, Folate-Sensitive, Susceptibility to 12
 
Neural Tube Defect, Folate-Sensitive 68
Spina Bifida, Folate-Sensitive 52
Spina Bifida, Folate Sensitive 24
Neural Tube Defects 52

Classifications:



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OMIM52 601634

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:52 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 neural tube defects and occipital encephalocele, 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 are Sulfur amino acid metabolism and Diseases of metabolism. Affiliated tissues include heart.

UniProtKB/Swiss-Prot:70 Neural tube defects, folate-sensitive: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.

Related Diseases for Neural Tube Defects, Folate-Sensitive

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

(show top 50)    (show all 94)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects32.5MTHFD1, MTHFR, MTR, MTRR
2occipital encephalocele29.2MTHFD1, MTHFR
3myelocystocele29.2MTHFD1, MTHFR
4craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation12.1
5vangl1-related neural tube defect12.1
6vangl2-related neural tube defect12.1
7anencephaly11.5
8encephalocele11.4
9birth defects11.3
10omphalocele11.2
11chiari malformation11.2
12mthfr thermolabile variant11.1
13fryns microphthalmia syndrome10.9
14meningoencephalocele10.9
15down syndrome10.1
16orofacial cleft10.1
17congenital intrinsic factor deficiency10.0MTR, MTRR
18x-linked disease10.0MTR, MTRR
19obesity10.0
20hydrocephalus10.0
21exencephaly10.0
22myelomeningocele10.0
23methylmalonic aciduria and homocystinuria, cblc type9.9MTHFD1, MTR
24iniencephaly9.9
25dysferlinopathy9.9MTR, MTRR
26exostosis9.9MTHFD1, MTR
27cervical spina bifida cystica9.9MTHFD1, MTHFR
28thoracolumbosacral spina bifida cystica9.8MTHFD1, MTHFR
29total spina bifida cystica9.8MTHFD1, MTHFR
30upper thoracic spina bifida aperta9.8MTHFD1, MTHFR
31cranial meningocele9.8MTHFD1, MTHFR
32schizophrenia9.8
33spina bifida occulta9.8
34meningocele9.8
35gastroschisis9.8
36hyperglycemia9.8
37neuronitis9.8
38cleft lip9.8
39lipomyelomeningocele9.8
40abdominal wall defect9.8
41cervicothoracic spina bifida aperta9.8MTHFD1, MTHFR
42open iniencephaly9.8MTHFD1, MTHFR
43closed iniencephaly9.8MTHFD1, MTHFR
44spina bifida aperta9.8MTHFD1, MTHFR
45mycophenolate mofetil embryopathy9.8MTHFD1, MTHFR
46homocystinuria due to mthfr deficiency9.7MTHFR, MTR
47serine deficiency9.7MTHFR, MTR
48waardenburg syndrome, type 39.7
49vater/vacterl association9.7
50spinal arachnoiditis9.7

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

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Symptoms by clinical synopsis from OMIM:

601634

Clinical features from OMIM:

601634

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

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis64 HP:0001939
2 spinal dysraphism64 HP:0010301

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

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Interventional clinical trials:

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

Genetic Tests for Neural Tube Defects, Folate-Sensitive

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

id Genetic test Affiliating Genes
1 Neural Tube Defects, Folate-Sensitive27
2 Folate-Sensitive Susceptibility to Neural Tube Defects24 MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

36
Heart

Publications for Neural Tube Defects, Folate-Sensitive

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Variations for Neural Tube Defects, Folate-Sensitive

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

70
id Symbol AA change Variation ID SNP ID
1MTHFD1p.Arg293HisVAR_010241rs34181110
2MTHFD1p.Arg653GlnVAR_010251rs2236225

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MTHFRNM_005957.4(MTHFR): c.1004G> A (p.Arg335His)SNVPathogenicrs543016186GRCh37Chr 1, 11855182: 11855182

Expression for genes affiliated with Neural Tube Defects, Folate-Sensitive

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

Pathways for genes affiliated with Neural Tube Defects, Folate-Sensitive

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3MTR, MTRR
2
Show member pathways
9.3MTR, MTRR
39.3MTR, MTRR
4
Show member pathways
9.3MTR, MTRR
5
Show member pathways
9.1MTHFR, MTR
6
Show member pathways
9.0MTHFR, MTRR
7
Show member pathways
8.0MTHFD1, MTHFR, MTR, MTRR
8
Show member pathways
8.0MTHFD1, MTHFR, MTR, MTRR

GO Terms for genes affiliated with Neural Tube Defects, Folate-Sensitive

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

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00058298.0MTHFD1, MTHFR, MTR, MTRR

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:000923510.0MTR, MTRR
2methylationGO:003225910.0MTR, MTRR
3sulfur amino acid metabolic processGO:00000969.6MTR, MTRR
4methionine biosynthetic processGO:00090869.5MTHFD1, MTR, MTRR
5folic acid metabolic processGO:00466559.2MTHFD1, MTHFR, MTRR
6methionine metabolic processGO:00065559.2MTHFD1, MTHFR, MTRR
7tetrahydrofolate interconversionGO:00359999.1MTHFD1, MTHFR
8oxidation-reduction processGO:00551148.9MTHFD1, MTHFR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.4MTHFR, MTRR
2NADP bindingGO:00506619.0MTHFR, MTRR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet