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 51 69
Folate-Sensitive Susceptibility to Neural Tube Defects 24 26
Ntdfs 24 69
Neural Tube Defects, Folate-Sensitive, Susceptibility to 12
 
Neural Tube Defect, Folate-Sensitive 67
Spina Bifida, Folate-Sensitive 51
Spina Bifida, Folate Sensitive 24
Neural Tube Defects 51

Classifications:



External Ids:

OMIM51 601634

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:51 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:69 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 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:

 63
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis63 HP:0001939
2 spinal dysraphism63 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-Sensitive26
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:

35
Heart

Animal Models for Neural Tube Defects, Folate-Sensitive or affiliated genes

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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:

69
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
1sulfur amino acid metabolic processGO:00000969.9MTR, MTRR
2cobalamin metabolic processGO:00092359.9MTR, MTRR
3tetrahydrofolate interconversionGO:00359999.7MTHFD1, MTHFR
4methionine biosynthetic processGO:00090869.4MTHFD1, MTR, MTRR
5methylationGO:00322599.3MTR, MTRR
6methionine metabolic processGO:00065559.2MTHFD1, MTHFR, MTRR
7folic acid metabolic processGO:00466558.7MTHFD1, MTHFR, MTRR
8oxidation-reduction processGO:00551148.4MTHFD1, MTHFR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.0MTHFR, MTRR
2flavin adenine dinucleotide bindingGO:00506608.7MTHFR, MTRR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet