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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MalaCards based summary: 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:46 601634

Aliases & Classifications for Neural Tube Defects, Folate-Sensitive

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Neural Tube Defects, Folate-Sensitive, Aliases & Descriptions:

Name: Neural Tube Defects, Folate-Sensitive 46


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/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia10.2MTR
2megaloblastic anemia10.2MTR
3disorders of intracellular cobalamin metabolism10.0MTRR, MTR
4homocystinuria10.0MTRR, MTR
5neural tube defects10.0MTR, MTRR
6spina bifida9.9MTRR, MTR
7cleft lip9.9MTR, MTRR
8hyperhomocysteinemia9.9MTRR, MTR
9down syndrome9.9MTR, MTRR
10colorectal cancer9.9MTR, MTRR
11vascular disease9.8MTRR, MTR
12coronary artery anomaly9.8MTR, 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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Clinical features from OMIM:

601634

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

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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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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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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 biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.1MTRR, MTR
4
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.1MTR, MTRR
5
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
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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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank
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Compounds related to Neural Tube Defects, Folate-Sensitive according to GeneCards/GeneDecks:

(show all 28)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin44 2410.5MTR, MTRR
2Cob(I)alamin249.5MTRR, MTR
3b vitamins449.5MTR, MTRR
4methylcobalamin44 2410.5MTR, MTRR
5cyanocobalamin50 24 1111.5MTR, MTRR
6hydroxocobalamin44 1110.5MTR, MTRR
75-methyltetrahydrofolate44 1110.5MTR, MTRR
8tetrahydrofolate449.5MTR, MTRR
9L-Methionine24 1110.5MTRR, MTR
10betaine44 2410.5MTRR, MTR
11cystathionine449.5MTRR, MTR
12methylmalonic acid44 2410.4MTRR, MTR
13cobalamin44 2410.4MTRR, MTR
14flavin449.4MTRR, MTR
15isoleucine449.4MTR, MTRR
16s-adenosylhomocysteine44 2410.4MTR, MTRR
17vitamin b12449.4MTR, MTRR
18thymidylate449.4MTRR, MTR
19homocysteine44 2410.4MTRR, MTR
20s-adenosylmethionine44 24 1111.3MTRR, MTR
21FAD249.3MTR, MTRR
22folate449.3MTR, MTRR
23methotrexate50 44 1111.2MTR, MTRR
24methionine449.2MTRR, MTR
25nadph44 2410.1MTRR, MTR
26glutamate449.1MTRR, MTR
27aspartate449.0MTR, MTRR
28nitric oxide44 24 1110.8MTR, 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/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
  • Proteins
  • Lysates

Sources for Neural Tube Defects, Folate-Sensitive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet