MCID: NRL018
MIFTS: 20

Neural Tube Defects, Folate-Sensitive malady

Summaries for Neural Tube Defects, Folate-Sensitive

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48OMIM, 34MalaCards
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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:48 601634

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

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48OMIM
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Aliases & Descriptions:

neural tube defects, folate-sensitive 48


Related Diseases for Neural Tube Defects, Folate-Sensitive

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

601634

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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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, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Neural Tube Defects, Folate-Sensitive

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

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51PathCards, 56Reactome, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 31KEGG
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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 biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.1MTRR, MTR
4
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
9.1MTR, MTRR
5
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.1MTR, MTRR
6
Show member pathways
9.1MTR, MTRR

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

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46Novoseek, 25HMDB, 12DrugBank, 52PharmGKB
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Compounds related to Neural Tube Defects, Folate-Sensitive according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin46 2510.5MTR, MTRR
2Cob(I)alamin259.5MTR, MTRR
3methylcobalamin46 2510.5MTRR, MTR
4b vitamins469.5MTRR, MTR
5hydroxocobalamin46 1210.5MTR, MTRR
6cyanocobalamin52 25 1211.5MTR, MTRR
75-methyltetrahydrofolate46 1210.5MTR, MTRR
8tetrahydrofolate469.5MTRR, MTR
9betaine46 2510.5MTR, MTRR
10L-Methionine25 1210.5MTR, MTRR
11cystathionine469.5MTR, MTRR
12methylmalonic acid46 2510.4MTRR, MTR
13cobalamin46 2510.4MTR, MTRR
14flavin469.4MTR, MTRR
15isoleucine469.4MTRR, MTR
16s-adenosylhomocysteine46 2510.4MTR, MTRR
17vitamin b12469.4MTR, MTRR
18thymidylate469.4MTR, MTRR
19homocysteine46 2510.4MTRR, MTR
20s-adenosylmethionine46 25 1211.3MTR, MTRR
21FAD259.3MTR, MTRR
22folate469.3MTRR, MTR
23methotrexate52 46 1211.2MTR, MTRR
24methionine469.2MTR, MTRR
25nadph46 2510.1MTRR, MTR
26glutamate469.1MTR, MTRR
27aspartate469.0MTR, MTRR
28nitric oxide46 25 1210.8MTR, MTRR

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

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17Gene 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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  • Antibodies
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  • Antibodies

Sources for Neural Tube Defects, Folate-Sensitive

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet