MCID: MTH027
MIFTS: 16

Mthfr Deficiency malady

Genetic diseases (common) category
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Summaries for Mthfr Deficiency

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MalaCards based summary: 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)). Affiliated tissues include endothelial.

Aliases & Classifications for Mthfr Deficiency

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Mthfr Deficiency, Aliases & Descriptions:

Name: Mthfr Deficiency 20
 
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 62


Classifications:

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


Related Diseases for Mthfr Deficiency

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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 deficiency10.3
3malaria10.0
4homocystinuria10.0
5cerebritis10.0
6neuropathy10.0
7peripheral neuropathy10.0
8mthfr thermolabile variant10.0
9cytomegalovirus infection10.0
10endotheliitis10.0

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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Drug clinical trials:

Search ClinicalTrials for Mthfr Deficiency

Search NIH Clinical Center for Mthfr Deficiency

Genetic Tests for Mthfr Deficiency

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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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MalaCards organs/tissues related to Mthfr Deficiency:

32
Endothelial

Animal Models for Mthfr Deficiency or affiliated genes

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Publications for Mthfr Deficiency

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Articles related to Mthfr Deficiency:

(show all 17)
idTitleAuthorsYear
1
Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant. (24616178)
2014
2
Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency. (25081070)
2014
3
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. (23526309)
2013
4
Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation. (24048573)
2013
5
A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews. (22947400)
2012
6
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. (22848014)
2012
7
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. (21778025)
2011
8
Mthfr deficiency induces endothelial progenitor cell senescence via uncoupling of eNOS and downregulation of SIRT1. (21169404)
2011
9
Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice. (20813139)
2011
10
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. (20356773)
2010
11
Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency. (19697151)
2009
12
Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. (19609317)
2009
13
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. (18615588)
2008
14
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. (18658082)
2008
15
Cystathionine betasynthase and MTHFR deficiencies in adults]. (18033026)
2007
16
Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine. (12655429)
2003
17
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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Expression patterns in normal tissues for genes affiliated with Mthfr Deficiency

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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

Sources for Mthfr Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet