NTDFS
MCID: NRL018
MIFTS: 36

Neural Tube Defects, Folate-Sensitive (NTDFS) 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 52 70
Folate-Sensitive Susceptibility to Neural Tube Defects 24 27
Ntdfs 24 70
Neural Tube Defects, Folate-Sensitive, Susceptibility to 12
 
Neural Tube Defect, Folate-Sensitive 68
Spina Bifida, Folate-Sensitive 52
Spina Bifida, Folate Sensitive 24
Neural Tube Defects 52

Classifications:



External Ids:

OMIM52 601634

Summaries for Neural Tube Defects, Folate-Sensitive

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OMIM:52 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 myelocystocele and cleft lip, and has symptoms including abnormality of metabolism/homeostasis and spinal dysraphism. An important gene associated with Neural Tube Defects, Folate-Sensitive is MTHFD1 (Methylenetetrahydrofolate Dehydrogenase, Cyclohydrolase And Formyltetrahydrofolate Synthetase 1), and among its related pathways are Diseases of metabolism and Sulfur amino acid metabolism. Affiliated tissues include heart.

UniProtKB/Swiss-Prot:70 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 110)
idRelated DiseaseScoreTop Affiliating Genes
1myelocystocele29.5MTHFD1, MTHFR
2cleft lip29.3MTHFR, MTR, MTRR
3neural tube defects12.7
4craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation12.1
5vangl1-related neural tube defect12.1
6vangl2-related neural tube defect12.1
7anencephaly11.5
8encephalocele11.4
9iniencephaly11.3
10birth defects11.2
11craniorachischisis11.2
12chiari malformation11.2
13mthfr thermolabile variant11.1
14fryns microphthalmia syndrome10.9
15valproate embryopathy, susceptibility to10.9
16limb-body wall complex10.9
17meningoencephalocele10.9
18mthfr gene mutation10.9
19down syndrome10.1
20x-linked disease10.1MTR, MTRR
21autosomal dominant disease10.1MTR, MTRR
22orofacial cleft10.0
23omphalocele10.0
24methylmalonic aciduria and homocystinuria, cblc type10.0MTHFD1, MTR
25ezh2-related overgrowth10.0MTR, MTRR
26skeletal muscle regeneration10.0MTR, MTRR
27anxiety disorder10.0MTHFD1, MTR
28obesity10.0
29hydrocephalus10.0
30exencephaly10.0
31myh7-related myosin storage myopathy10.0MTHFR, MTR
32homocystinuria due to mthfr deficiency10.0MTHFR, MTR
33hereditary acrokeratotic poikiloderma, weary type10.0MTHFD1, MTHFR
34posterior meningocele10.0MTHFD1, MTHFR
35pericardial and diaphragmatic defect10.0MTHFD1, MTHFR
36hereditary thrombocytopenia with normal platelets10.0MTHFD1, MTHFR
37thoracolumbosacral spina bifida aperta10.0MTHFD1, MTHFR
38lumbosacral spina bifida aperta10.0MTHFD1, MTHFR
39cervical spina bifida aperta10.0MTHFD1, MTHFR
40mycophenolate mofetil embryopathy10.0MTHFD1, MTHFR
41complication in hemodialysis10.0MTHFD1, MTHFR
42myelomeningocele10.0
43intermediate maple syrup urine disease10.0MTHFD1, MTHFR
4446,xx disorder of sex development-anorectal anomalies syndrome10.0MTHFD1, MTHFR
45glycogen storage disease due to liver phosphorylase kinase deficiency10.0MTHFD1, MTHFR
46coenzyme q10 deficiency disease9.9MTHFR, MTR
47hyperekplexia 2, autosomal recessive9.9MTHFR, MTR
48congenital intrinsic factor deficiency9.9MTHFR, MTR
49ophthalmia neonatorum9.9MTHFD1, MTHFR
50borderline glaucoma9.9MTHFR, MTR

Graphical network of the top 20 diseases related to Neural Tube Defects, Folate-Sensitive:



Diseases related to neural tube defects, folate-sensitive

Symptoms & Phenotypes for Neural Tube Defects, Folate-Sensitive

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Symptoms by clinical synopsis from OMIM:

601634

Clinical features from OMIM:

601634

Human phenotypes related to Neural Tube Defects, Folate-Sensitive:

 64
id Description HPO Frequency HPO Source Accession
1 abnormality of metabolism/homeostasis64 HP:0001939
2 spinal dysraphism64 HP:0010301

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 Neural Tube Defects, Folate-Sensitive27
2 Folate-Sensitive Susceptibility to Neural Tube Defects24 MTRR

Anatomical Context for Neural Tube Defects, Folate-Sensitive

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

36
Heart

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:

70
id Symbol AA change Variation ID SNP ID
1MTHFD1p.Arg293HisVAR_010241rs34181110
2MTHFD1p.Arg653GlnVAR_010251rs2236225

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1MTHFRNM_ 005957.4(MTHFR): c.665C> T (p.Ala222Val)SNVdrug responsers1801133GRCh37Chr 1, 11856378: 11856378
2MTHFRNM_ 005957.4(MTHFR): c.1286A> C (p.Glu429Ala)SNVdrug responsers1801131GRCh37Chr 1, 11854476: 11854476

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
9.3MTR, MTRR
2
Show member pathways
9.3MTR, MTRR
39.3MTR, MTRR
4
Show member pathways
9.3MTR, MTRR
5
Show member pathways
9.1MTHFR, MTR
6
Show member pathways
8.0MTHFD1, MTHFR, MTR, 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 9)
idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:000923510.0MTR, MTRR
2methylationGO:003225910.0MTR, MTRR
3sulfur amino acid metabolic processGO:00000969.6MTR, MTRR
4cellular amino acid biosynthetic processGO:00086529.5MTHFD1, MTR, MTRR
5methionine biosynthetic processGO:00090869.5MTHFD1, MTR, MTRR
6folic acid metabolic processGO:00466559.2MTHFD1, MTHFR, MTRR
7methionine metabolic processGO:00065559.2MTHFD1, MTHFR, MTRR
8tetrahydrofolate interconversionGO:00359999.1MTHFD1, MTHFR
9oxidation-reduction processGO:00551148.8MTHFD1, MTHFR, MTRR

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

idNameGO IDScoreTop Affiliating Genes
1flavin adenine dinucleotide bindingGO:00506609.7MTHFR, MTRR
2NADP bindingGO:00506619.7MTHFR, MTRR
3oxidoreductase activityGO:00164918.5MTHFD1, MTHFR, MTRR

Sources for Neural Tube Defects, Folate-Sensitive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet