MCID: NRL018
MIFTS: 39

Neural Tube Defects, Folate-Sensitive malady

Genetic diseases (common) category

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:45 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(I)alamin and cob(ii)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.

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 45
Neural Tube Defects, Folate-Sensitive, Susceptibility to 10 22
 
Spina Bifida, Folate-Sensitive 45
Neural Tube Defects 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 601634

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:

6
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, MTHFR, MTRR
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 metabolism58
9.1MTHFR, MTRR, MTR

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

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Sources:
24HMDB, 43Novoseek, 12DrugBank, 49PharmGKB
See all sources

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

(show all 43)
idCompoundScoreTop Affiliating Genes
1Cob(I)alamin2410.0MTRR, MTR
2cob(ii)alamin43 2411.0MTRR, MTR
35-Methyltetrahydrofolic acid249.9MTHFR, MTR
4methyl-group439.9MTHFR, MTR
5adenosylcobalamin43 2410.9MTHFR, MTR
6L-Methionine24 1210.9MTRR, MTR
75,10-methenyltetrahydrofolate439.9MTHFR, MTR
8vitamin b-complex, plain499.9MTHFR, MTRR
910-formyltetrahydrofolate439.9MTR, MTHFR
10benazepril43 49 1211.9MTHFR, MTR
11flavin439.9MTR, MTRR
12Tetrahydrofolic acid24 1210.8MTHFR, MTR
13folic acid49 24 1211.8MTRR, MTHFR
14riboflavin43 24 1211.8MTRR, MTHFR
15vitamin b6439.8MTR, MTHFR
16dihydrofolate439.7MTR, MTHFR
17pyridoxal 5-phosphate439.7MTR, MTHFR
18isoleucine439.7MTR, MTRR
19purine43 2410.5MTR, MTHFR
20cyclophosphamide43 49 1211.5MTR, MTHFR
21b vitamins439.5MTR, MTRR, MTHFR
22methylcobalamin43 2410.5MTR, MTRR, MTHFR
23cyanocobalamin49 24 1211.5MTHFR, MTRR, MTR
24hydroxocobalamin43 1210.5MTHFR, MTRR, MTR
255-methyltetrahydrofolate43 1210.5MTHFR, MTRR, MTR
26tetrahydrofolate439.5MTR, MTRR, MTHFR
27betaine43 2410.5MTR, MTRR, MTHFR
28cystathionine439.5MTHFR, MTRR, MTR
29methylmalonic acid43 2410.5MTR, MTRR, MTHFR
30cobalamin43 2410.5MTHFR, MTRR, MTR
31s-adenosylhomocysteine43 2410.5MTR, MTRR, MTHFR
32vitamin b12439.5MTR, MTRR, MTHFR
33thymidylate439.5MTHFR, MTRR, MTR
34homocysteine43 2410.5MTR, MTRR, MTHFR
35s-adenosylmethionine43 24 1211.4MTR, MTRR, MTHFR
36FAD249.4MTHFR, MTRR, MTR
37folate439.4MTR, MTRR, MTHFR
38methotrexate49 43 1211.4MTR, MTRR, MTHFR
39methionine439.3MTHFR, MTRR, MTR
40nadph43 2410.3MTHFR, MTRR, MTR
41carbon439.2MTR, MTHFR
42aspartate439.2MTHFR, MTRR, MTR
43glutamate439.0MTHFR, MTRR, MTR

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

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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet