MCID: MTH027
MIFTS: 18

Mthfr Deficiency malady

Genetic diseases (common) category
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Summaries for Mthfr Deficiency

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33MalaCards
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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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62UMLS, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

mthfr deficiency 20
homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 62
homocystinuria 62


Related Diseases for Mthfr Deficiency

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17GeneCards, 18GeneDecks
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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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Mthfr Deficiency

Search NIH Clinical Center for Mthfr Deficiency

Inferred drug relations via UMLS62/NDF-RT41:

Genetic Tests for Mthfr Deficiency

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20GeneTests
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Genetic tests related to Mthfr Deficiency:

id Genetic test Affiliating Genes
1 Mthfr Deficiency20 MTHFR

Anatomical Context for Mthfr Deficiency

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33MalaCards
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MalaCards organs/tissues related to Mthfr Deficiency:

33
Endothelial

Animal Models for Mthfr Deficiency or affiliated genes

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Publications for Mthfr Deficiency

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52PubMed
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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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2BioGPS, 15Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet