MCID: NRL018
MIFTS: 38

Neural Tube Defects, Folate-Sensitive malady

Category: Genetic diseases (common)

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 49 67
Folate-Sensitive Susceptibility to Neural Tube Defects 22 24
Ntdfs 22 67
Neural Tube Defects, Folate-Sensitive, Susceptibility to 11
 
Neural Tube Defect, Folate-Sensitive 65
Spina Bifida, Folate Sensitive 22
Spina Bifida, Folate-Sensitive 49
Neural Tube Defects 49

Classifications:



External Ids:

OMIM49 601634
UMLS65 C1866558

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:49 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 folate-sensitive susceptibility to neural tube defects, is related to neural tube defects and omphalocele, and has symptoms including spinal dysraphismand abnormality of metabolism/homeostasis. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTHFD1 (Methylenetetrahydrofolate Dehydrogenase (NADP+ Dependent) 1, Methenyltetrahydrofolate Cyclohydrolase, Formyltetrahydrofolate Synthetase), and among its related pathways are Folate Metabolism and Selenium Pathway. Affiliated tissues include heart, thyroid and liver.

UniProtKB/Swiss-Prot:67 Neural tube defects, folate-sensitive: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.

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 95)
idRelated DiseaseScoreTop Affiliating Genes
1neural tube defects32.3MTHFD1, MTHFR, MTR, MTRR
2omphalocele30.4MTHFD1, MTHFR, MTRR
3occipital encephalocele29.9MTHFD1, MTHFR
4vangl1-related neural tube defect12.2
5vangl2-related neural tube defect12.2
6cataract-congenital heart disease-neural tube defect syndrome12.2
7mthfr thermolabile variant11.2
8anencephaly10.9
9encephalocele10.8
10iniencephaly10.7
11craniorachischisis10.5
12chiari malformation10.5
1321q22.13q22.2 microdeletion syndrome10.2MTHFD1, MTHFR
14down syndrome10.2
15cervicothoracic spina bifida cystica10.2MTHFD1, MTHFR
16lumbosacral spina bifida cystica10.2MTHFD1, MTHFR
17orofacial cleft10.2
18thoracolumbosacral spina bifida cystica10.2MTHFD1, MTHFR
19total spina bifida cystica10.2MTHFD1, MTHFR
20upper thoracic spina bifida aperta10.1MTHFD1, MTHFR
21cranial meningocele10.1MTHFD1, MTHFR
22obesity10.1
23exencephaly10.1
24cervical spina bifida aperta10.1MTHFD1, MTHFR
25cervicothoracic spina bifida aperta10.1MTHFD1, MTHFR
26open iniencephaly10.1MTHFD1, MTHFR
27closed iniencephaly10.1MTHFD1, MTHFR
28hydrocephalus10.1
29myelomeningocele10.0
30diabetic embryopathy10.0
31anophthalmia plus syndrome10.0
32limb-body wall complex10.0
33meningoencephalocele10.0
34schizophrenia9.9
35spina bifida occulta9.9
36meningocele9.9
37gastroschisis9.9
38hyperglycemia9.9
39neuronitis9.9
40cleft lip9.9
41lipomyelomeningocele9.9
42abdominal wall defect9.9
43senile cataract9.9MTHFD1, MTHFR
44methylmalonic aciduria and homocystinuria type cblg9.8MTR, MTRR
45congenital intrinsic factor deficiency9.8MTR, MTRR
46homocystinuria due to mthfr deficiency9.8MTHFR, MTR
47waardenburg syndrome, type 39.8
48craniosynostosis9.8
49holoprosencephaly9.8
50spondylocostal dysostosis9.8

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 spinal dysraphism HP:0010301
2 abnormality of metabolism/homeostasis HP:0001939

Drugs & Therapeutics for Neural Tube Defects, Folate-Sensitive

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Interventional clinical trials:

Search ClinicalTrials, 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 Folate-Sensitive Susceptibility to Neural Tube Defects22 MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

33
Heart, Thyroid, Liver, Myeloid, Prostate, Breast, Bone

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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UniProtKB/Swiss-Prot genetic disease variations for Neural Tube Defects, Folate-Sensitive:

67
id Symbol AA change Variation ID SNP ID
1MTHFD1p.Arg293HisVAR_010241rs34181110
2MTHFD1p.Arg653GlnVAR_010251rs2236225

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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.3MTHFR, MTRR
2
Show member pathways
9.1MTHFR, MTR
3
Show member pathways
9.0MTR, MTRR
4
Show member pathways
9.0MTR, MTRR
59.0MTR, MTRR
6
Show member pathways
9.0MTR, MTRR
7
Show member pathways
8.0MTHFD1, MTHFR, MTR, MTRR
8
Show member pathways
8.0MTHFD1, MTHFR, MTR, 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 Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1tetrahydrofolate interconversionGO:003599910.0MTHFD1, MTHFR
2methionine biosynthetic processGO:00090869.7MTHFD1, MTR
3cobalamin metabolic processGO:00092359.7MTR, MTRR
4sulfur amino acid metabolic processGO:00000969.6MTR, MTRR
5folic acid metabolic processGO:00466559.3MTHFD1, MTHFR, MTRR
6xenobiotic metabolic processGO:00068059.3MTR, MTRR
7small molecule metabolic processGO:00442818.5MTHFR, MTR, MTRR
8vitamin metabolic processGO:00067668.0MTHFD1, MTHFR, MTR, MTRR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet