MCID: NRL018
MIFTS: 37

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 50 68
Folate-Sensitive Susceptibility to Neural Tube Defects 23 25
Ntdfs 23 68
Neural Tube Defects, Folate-Sensitive, Susceptibility to 12
 
Neural Tube Defect, Folate-Sensitive 66
Spina Bifida, Folate-Sensitive 50
Spina Bifida, Folate Sensitive 23
Neural Tube Defects 50

Classifications:



External Ids:

OMIM50 601634

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:50 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 Folate Metabolism and Carbon metabolism. Affiliated tissues include heart.

UniProtKB/Swiss-Prot:68 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 100)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects32.3MTHFD1, MTHFR, MTR, MTRR
2occipital encephalocele29.8MTHFD1, MTHFR
3myelocystocele29.8MTHFD1, MTHFR
4craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation12.2
5vangl1-related neural tube defect12.2
6vangl2-related neural tube defect12.2
7mthfr thermolabile variant11.2
8anencephaly10.9
9encephalocele10.8
10birth defects10.7
11omphalocele10.7
12iniencephaly10.7
13craniorachischisis10.5
14chiari malformation10.5
15down syndrome10.2
16orofacial cleft10.2
17cervical spina bifida cystica10.2MTHFD1, MTHFR
18thoracolumbosacral spina bifida cystica10.1MTHFD1, MTHFR
19total spina bifida cystica10.1MTHFD1, MTHFR
20upper thoracic spina bifida aperta10.1MTHFD1, MTHFR
21obesity10.1
22exencephaly10.1
23cranial meningocele10.1MTHFD1, MTHFR
24cervicothoracic spina bifida aperta10.1MTHFD1, MTHFR
25open iniencephaly10.1MTHFD1, MTHFR
26closed iniencephaly10.1MTHFD1, MTHFR
27hydrocephalus10.1
28myelomeningocele10.1
29spina bifida aperta10.1MTHFD1, MTHFR
30mycophenolate mofetil embryopathy10.0MTHFD1, MTHFR
31fryns microphthalmia syndrome10.0
32limb-body wall complex10.0
33meningoencephalocele10.0
34schizophrenia9.9
35spina bifida occulta9.9
36meningocele9.9
37gastroschisis9.9
38hyperglycemia9.9
39neuronitis9.9
40cleft lip9.9
41lipomyelomeningocele9.9
42abdominal wall defect9.9
43noma9.8MTHFD1, MTHFR
44congenital intrinsic factor deficiency9.8MTR, MTRR
45waardenburg syndrome, type 39.8
46vater/vacterl association9.8
47spinal arachnoiditis9.8
48diastematomyelia9.8
49craniosynostosis9.8
50holoprosencephaly9.8

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

HPO human phenotypes related to Neural Tube Defects, Folate-Sensitive:

id Description Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis HP:0001939
2 spinal dysraphism 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-Sensitive25
2 Folate-Sensitive Susceptibility to Neural Tube Defects23 MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

34
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:

68
id Symbol AA change Variation ID SNP ID
1MTHFD1p.Arg293HisVAR_010241rs34181110
2MTHFD1p.Arg653GlnVAR_010251rs2236225

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
9.3MTHFR, MTRR
2
Show member pathways
9.1MTHFR, MTR
3
Show member pathways
9.1MTHFR, MTR
4
Show member pathways
9.0MTR, MTRR
59.0MTR, MTRR
6
Show member pathways
9.0MTR, MTRR
7
Show member pathways
9.0MTR, MTRR
8
Show member pathways
8.0MTHFD1, MTHFR, MTR, MTRR
9
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
1tetrahydrofolate interconversionGO:003599910.0MTHFD1, MTHFR
2sulfur amino acid metabolic processGO:00000969.6MTR, MTRR
3cobalamin metabolic processGO:00092359.6MTR, MTRR
4methionine metabolic processGO:00065559.5MTHFD1, MTHFR, MTRR
5methionine biosynthetic processGO:00090869.2MTHFD1, MTR, MTRR
6methylationGO:00322599.0MTR, MTRR
7folic acid metabolic processGO:00466559.0MTHFD1, MTHFR, MTRR
8oxidation-reduction processGO:00551148.8MTHFD1, MTHFR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1NADP bindingGO:00506619.3MTHFR, MTRR
2flavin adenine dinucleotide bindingGO:00506609.0MTHFR, MTRR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet