MCID: NRL018
MIFTS: 20

Neural Tube Defects, Folate-Sensitive malady

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Summaries for Neural Tube Defects, Folate-Sensitive

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47OMIM, 33MalaCards
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MalaCards: Neural Tube Defects, Folate-Sensitive is related to homocysteinemia and megaloblastic anemia. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), and among its related pathways are Biological oxidations and Disease. The compounds cob(ii)alamin and Cob(I)alamin have been mentioned in the context of this disorder.

Description from OMIM:47 601634

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

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47OMIM
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Aliases & Descriptions:

neural tube defects, folate-sensitive 47


Related Diseases for Neural Tube Defects, Folate-Sensitive

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17GeneCards, 18GeneDecks
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Diseases related to Neural Tube Defects, Folate-Sensitive via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia10.0MTR
2megaloblastic anemia10.0MTR
3disorders of intracellular cobalamin metabolism10.0MTR, MTRR
4homocystinuria10.0MTR, MTRR
5neural tube defects10.0MTR, MTRR
6spina bifida10.0MTR, MTRR
7cleft lip10.0MTRR, MTR
8hyperhomocysteinemia10.0MTR, MTRR
9down syndrome10.0MTR, MTRR
10colorectal cancer10.0MTR, MTRR
11vascular disease10.0MTRR, MTR
12coronary artery disease9.9MTR, MTRR

Graphical network of 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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47OMIM
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Clinical features from OMIM:

601634

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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

Genetic Tests for Neural Tube Defects, Folate-Sensitive

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Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neural Tube Defects, Folate-Sensitive

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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50PathCards, 55Reactome, 38NCBI BioSystems Database, 51PharmGKB, 60Thomson Reuters, 30KEGG
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Pathways related to Neural Tube Defects, Folate-Sensitive according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1MTR, MTRR
29.1MTR, MTRR
3
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.1MTRR, MTR
4
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
9.1MTR, MTRR
5
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.1MTR, MTRR
6
Show member pathways
9.1MTR, MTRR

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

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45Novoseek, 24HMDB, 11DrugBank, 51PharmGKB
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Compounds related to Neural Tube Defects, Folate-Sensitive according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin45 2410.5MTR, MTRR
2Cob(I)alamin249.5MTR, MTRR
3methylcobalamin45 2410.5MTRR, MTR
4b vitamins459.5MTRR, MTR
5hydroxocobalamin45 1110.5MTR, MTRR
6cyanocobalamin51 24 1111.5MTR, MTRR
75-methyltetrahydrofolate45 1110.5MTR, MTRR
8tetrahydrofolate459.5MTRR, MTR
9betaine45 2410.5MTR, MTRR
10L-Methionine24 1110.5MTR, MTRR
11cystathionine459.5MTR, MTRR
12methylmalonic acid45 2410.4MTRR, MTR
13cobalamin45 2410.4MTR, MTRR
14flavin459.4MTR, MTRR
15isoleucine459.4MTRR, MTR
16s-adenosylhomocysteine45 2410.4MTR, MTRR
17vitamin b12459.4MTR, MTRR
18thymidylate459.4MTR, MTRR
19homocysteine45 2410.4MTRR, MTR
20s-adenosylmethionine45 24 1111.3MTR, MTRR
21FAD249.3MTR, MTRR
22folate459.3MTRR, MTR
23methotrexate51 45 1111.2MTR, MTRR
24methionine459.2MTR, MTRR
25nadph45 2410.1MTRR, MTR
26glutamate459.1MTR, MTRR
27aspartate459.0MTR, MTRR
28nitric oxide45 24 1110.8MTR, MTRR

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

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16Gene Ontology
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Biological processes related to Neural Tube Defects, Folate-Sensitive according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1methylationGO:0322599.3MTR, MTRR
2cobalamin metabolic processGO:0092359.2MTR, MTRR
3sulfur amino acid metabolic processGO:0000969.2MTR, MTRR
4water-soluble vitamin metabolic processGO:0067679.1MTRR, MTR
5cellular nitrogen compound metabolic processGO:0346419.1MTR, MTRR
6vitamin metabolic processGO:0067669.0MTR, MTRR
7xenobiotic metabolic processGO:0068058.8MTR, MTRR

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

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Sources for Neural Tube Defects, Folate-Sensitive

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet