MCID: MTH027
MIFTS: 18

Mthfr Deficiency malady

Genetic diseases (common) category

Summaries for Mthfr Deficiency

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34MalaCards
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MalaCards: Mthfr Deficiency, also known as homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity, is related to homocysteinemia due to mthfr deficiency and homocystinuria due to mthfr deficiency. An important gene associated with Mthfr Deficiency is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)). The drugs betaine and betaine hydrochloride have been mentioned in the context of this disorder. Affiliated tissues include endothelial.

Aliases & Classifications for Mthfr Deficiency

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63UMLS, 21GeneTests
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Classifications:

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


Aliases & Descriptions:

mthfr deficiency 21
homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 63
homocystinuria 63


Related Diseases for Mthfr Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Mthfr Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia due to mthfr deficiency10.5
2homocystinuria due to mthfr deficiency10.2
3homocystinuria10.0
4cerebritis10.0
5neuropathy10.0
6peripheral neuropathy10.0
7mthfr thermolabile variant10.0
8cytomegalovirus infection10.0
9endotheliitis10.0

Graphical network of diseases related to Mthfr Deficiency:



Diseases related to mthfr deficiency

Symptoms for Mthfr Deficiency

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Drugs & Therapeutics for Mthfr Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Mthfr Deficiency

Drug clinical trials:

Search ClinicalTrials for Mthfr Deficiency

Search NIH Clinical Center for Mthfr Deficiency

Search CenterWatch for Mthfr Deficiency

Inferred drug relations via UMLS63/NDF-RT42:

Genetic Tests for Mthfr Deficiency

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21GeneTests
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Genetic tests related to Mthfr Deficiency:

id Genetic test Affiliating Genes
1 Mthfr Deficiency21 MTHFR

Anatomical Context for Mthfr Deficiency

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34MalaCards
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MalaCards organs/tissues related to Mthfr Deficiency:

34
Endothelial

Animal Models for Mthfr Deficiency or affiliated genes

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Publications for Mthfr Deficiency

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53PubMed
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Articles related to Mthfr Deficiency:

(show all 15)
idTitleAuthorsYear
1
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. (23526309)
2013
2
Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation. (24048573)
2013
3
A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews. (22947400)
2012
4
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. (22848014)
2012
5
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. (21778025)
2011
6
Mthfr deficiency induces endothelial progenitor cell senescence via uncoupling of eNOS and downregulation of SIRT1. (21169404)
2011
7
Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice. (20813139)
2011
8
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. (20356773)
2010
9
Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency. (19697151)
2009
10
Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. (19609317)
2009
11
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. (18615588)
2008
12
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. (18658082)
2008
13
Cystathionine betasynthase and MTHFR deficiencies in adults]. (18033026)
2007
14
Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine. (12655429)
2003
15
5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency. (12028998)
2002

Variations for Mthfr Deficiency

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Expression for genes affiliated with Mthfr Deficiency

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mthfr Deficiency

Search GEO for disease gene expression data for Mthfr Deficiency.

Pathways for genes affiliated with Mthfr Deficiency

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Compounds for genes affiliated with Mthfr Deficiency

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GO Terms for genes affiliated with Mthfr Deficiency

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Products for genes affiliated with Mthfr Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mthfr Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet