MCID: NRL018
MIFTS: 39

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 49 67
Folate-Sensitive Susceptibility to Neural Tube Defects 22 24
Ntdfs 22 67
Neural Tube Defects, Folate-Sensitive, Susceptibility to 11
 
Neural Tube Defect, Folate-Sensitive 65
Spina Bifida, Folate Sensitive 22
Spina Bifida, Folate-Sensitive 49
Neural Tube Defects 49

Classifications:



External Ids:

OMIM49 601634
UMLS65 C1866558

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:49 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 omphalocele, and has symptoms including spinal dysraphismand abnormality of metabolism/homeostasis. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTHFD1 (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1, Methenyltetrahydrofolate Cyclohydrolase, Formyltetrahydrofolate Synthetase), and among its related pathways are Folate Metabolism and Selenium Pathway. Affiliated tissues include heart.

UniProtKB/Swiss-Prot:67 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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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 spinal dysraphism HP:0010301
2 abnormality of metabolism/homeostasis HP:0001939

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 Folate-Sensitive Susceptibility to Neural Tube Defects22 MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

33
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:

67
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
9.0MTR, MTRR
4
Show member pathways
9.0MTR, MTRR
59.0MTR, MTRR
6
Show member pathways
9.0MTR, 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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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
2methionine biosynthetic processGO:00090869.7MTHFD1, MTR
3cobalamin metabolic processGO:00092359.7MTR, MTRR
4sulfur amino acid metabolic processGO:00000969.6MTR, MTRR
5folic acid metabolic processGO:00466559.3MTHFD1, MTHFR, MTRR
6xenobiotic metabolic processGO:00068059.3MTR, MTRR
7small molecule metabolic processGO:00442818.5MTHFR, MTR, MTRR
8vitamin metabolic processGO:00067668.0MTHFD1, MTHFR, MTR, MTRR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet