MCID: NRL018
MIFTS: 39

Neural Tube Defects, Folate-Sensitive malady

Genetic diseases (common) category

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 46
Neural Tube Defects, Folate-Sensitive, Susceptibility to 9 22
 
Spina Bifida, Folate-Sensitive 46
Neural Tube Defects 46


Classifications:



External Ids:

OMIM46 601634

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:46 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 neural tube defects, folate-sensitive, susceptibility to, is related to neural tube defects and down syndrome, and has symptoms including abnormality of metabolism/homeostasis An important gene associated with Neural Tube Defects, Folate-Sensitive is MTR (5-methyltetrahydrofolate-homocysteine methyltransferase), and among its related pathways are Sulfur amino acid metabolism and Selenium Pathway. The compounds cob(ii)alamin and Cob(I)alamin have been mentioned in the context of this disorder. Affiliated tissues include heart, and related mouse phenotypes are hearing/vestibular/ear and limbs/digits/tail.

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 78)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects32.4VANGL1, VANGL2
2down syndrome30.8MTHFR, MTRR, MTR
3cleft lip30.5MTR, MTRR, MTHFR
4vitamin b12 deficiency30.5MTR, MTHFR
5homocystinuria30.2MTHFR, MTRR, MTR
6hyperhomocysteinemia30.2MTR, MTRR, MTHFR
7vascular disease30.2MTHFR, MTRR, MTR
8anencephaly10.8
9encephalocele10.6
10omphalocele10.5
11orofacial cleft10.5
12exencephaly10.5
13iniencephaly10.5
14obesity10.5
15hydrocephalus10.5
16myelomeningocele10.5
17meningocele10.4
18vangl1-related neural tube defect10.4
19vangl2-related neural tube defect10.4
20diabetic embryopathy10.4
21cataract-congenital heart disease-neural tube defect syndrome10.4
22megaloblastic anemia10.4MTR
23caudal regression syndrome10.3VANGL1
24schizophrenia10.3
25craniorachischisis10.3
26holoprosencephaly10.3
27neuronitis10.3
28hyperglycemia10.3
29lipomyelomeningocele10.3
30spina bifida occulta10.3
31split cord malformation10.3
32abdominal wall defect10.3
33strabismus10.2VANGL2
34disorders of intracellular cobalamin metabolism10.2MTR, MTRR
35homocysteinemia10.2MTR, MTHFR
36homocysteinemia due to mthfr deficiency10.2MTHFR, MTR
37folic acid deficiency anemia10.2MTR, MTHFR
38waardenburg syndrome, type 310.2
39vacterl association10.2
40craniosynostosis10.2
41polydactyly10.2
42glucose intolerance10.2
43choroiditis10.2
44gastroschisis10.2
45arachnoiditis10.2
46spondylocostal dysostosis10.2
47fetal alcohol syndrome10.2
48congenital diaphragmatic hernia10.2
49dysostosis10.2
50ischemia10.2

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

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

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Drug clinical trials:

Search ClinicalTrials for Neural Tube Defects, Folate-Sensitive

Search 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-Sensitive22

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

31
Heart

Animal Models for Neural Tube Defects, Folate-Sensitive or affiliated genes

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MGI Mouse Phenotypes related to Neural Tube Defects, Folate-Sensitive:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.5VANGL1, VANGL2, FUZ
2MP:00053718.0MTHFR, VANGL1, VANGL2, FUZ
3MP:00053767.6FUZ, VANGL2, MTHFR, MTRR, MTR
4MP:00107687.3FUZ, VANGL2, VANGL1, MTHFR, MTR

Publications for Neural Tube Defects, Folate-Sensitive

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Variations for Neural Tube Defects, Folate-Sensitive

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Clinvar genetic disease variations for Neural Tube Defects, Folate-Sensitive:

5
id Gene Variation Type Significance SNP ID Assembly Location
1VANGL1NM_138959.2(VANGL1): c.821G> A (p.Arg274Gln)single nucleotide variantPathogenicrs121918219GRCh37Chr 1, 116224993: 116224993
2VANGL1NM_138959.2(VANGL1): c.983T> C (p.Met328Thr)single nucleotide variantPathogenicrs121918220GRCh37Chr 1, 116226601: 116226601
3FUZNM_025129.4(FUZ): c.115C> T (p.Pro39Ser)single nucleotide variantPathogenicrs387907204GRCh37Chr 19, 50315990: 50315990
4FUZNM_025129.4(FUZ): c.1060G> T (p.Asp354Tyr)single nucleotide variantPathogenicrs139365610GRCh37Chr 19, 50310605: 50310605
5VANGL2NM_020335.2(VANGL2): c.1057C> T (p.Arg353Cys)single nucleotide variantPathogenicrs267607167GRCh37Chr 1, 160390961: 160390961
6VANGL2NM_020335.2(VANGL2): c.1310T> C (p.Phe437Ser)single nucleotide variantPathogenicrs267607168GRCh37Chr 1, 160394912: 160394912

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6MTR, MTRR
2
Show member pathways
thioredoxin pathway36
9.5MTR, MTHFR
3
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.5MTR, MTHFR
4
Show member pathways
Vitamin B12 Metabolism36
9.5MTHFR, MTRR
5
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.1MTR, MTRR, MTHFR
6
Show member pathways
One Carbon Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism59
9.1MTR, MTRR, MTHFR

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

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
See all sources

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

(show all 43)
idCompoundScoreTop Affiliating Genes
1cob(ii)alamin44 2411.0MTRR, MTR
2Cob(I)alamin2410.0MTRR, MTR
3methyl-group449.9MTR, MTHFR
45-Methyltetrahydrofolic acid249.9MTR, MTHFR
5L-Methionine24 1110.9MTR, MTRR
65,10-methenyltetrahydrofolate449.9MTR, MTHFR
7adenosylcobalamin44 2410.9MTHFR, MTR
8vitamin b-complex, plain509.9MTRR, MTHFR
910-formyltetrahydrofolate449.9MTHFR, MTR
10benazepril44 50 1111.9MTHFR, MTR
11flavin449.9MTR, MTRR
12Tetrahydrofolic acid24 1110.8MTHFR, MTR
13folic acid50 24 1111.8MTHFR, MTRR
14riboflavin44 24 1111.8MTHFR, MTRR
15vitamin b6449.8MTHFR, MTR
16dihydrofolate449.7MTHFR, MTR
17pyridoxal 5-phosphate449.7MTHFR, MTR
18isoleucine449.7MTRR, MTR
19purine44 2410.5MTHFR, MTR
20cyclophosphamide44 50 1111.5MTHFR, MTR
21b vitamins449.5MTR, MTRR, MTHFR
22methylcobalamin44 2410.5MTR, MTRR, MTHFR
23cyanocobalamin50 24 1111.5MTR, MTHFR, MTRR
24hydroxocobalamin44 1110.5MTR, MTRR, MTHFR
255-methyltetrahydrofolate44 1110.5MTHFR, MTR, MTRR
26tetrahydrofolate449.5MTHFR, MTR, MTRR
27betaine44 2410.5MTRR, MTR, MTHFR
28cystathionine449.5MTRR, MTR, MTHFR
29methylmalonic acid44 2410.5MTR, MTRR, MTHFR
30cobalamin44 2410.5MTHFR, MTRR, MTR
31s-adenosylhomocysteine44 2410.5MTHFR, MTR, MTRR
32vitamin b12449.5MTHFR, MTR, MTRR
33thymidylate449.5MTR, MTRR, MTHFR
34homocysteine44 2410.5MTR, MTRR, MTHFR
35s-adenosylmethionine44 24 1111.4MTRR, MTHFR, MTR
36FAD249.4MTHFR, MTR, MTRR
37folate449.4MTRR, MTR, MTHFR
38methotrexate50 44 1111.4MTR, MTHFR, MTRR
39methionine449.3MTHFR, MTRR, MTR
40nadph44 2410.3MTR, MTRR, MTHFR
41carbon449.2MTHFR, MTR
42aspartate449.2MTR, MTHFR, MTRR
43glutamate449.0MTR, MTRR, MTHFR

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 11)
idNameGO IDScoreTop Affiliating Genes
1methylationGO:00322599.7MTRR, MTR
2methionine biosynthetic processGO:00090869.7MTHFR, MTRR
3cobalamin metabolic processGO:00092359.7MTR, MTRR
4folic acid metabolic processGO:00466559.6MTRR, MTHFR
5sulfur amino acid metabolic processGO:00000969.6MTR, MTRR
6xenobiotic metabolic processGO:00068059.6MTR, MTRR
7water-soluble vitamin metabolic processGO:00067679.3MTR, MTRR, MTHFR
8vitamin metabolic processGO:00067669.3MTR, MTRR, MTHFR
9establishment of planar polarityGO:00017369.3VANGL2, FUZ
10hair follicle developmentGO:00019429.0FUZ, VANGL2
11neural tube closureGO:00018438.8VANGL2, FUZ

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.5MTRR, MTHFR
2NADP bindingGO:00506619.2MTRR, MTHFR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet