MCID: MTH027
MIFTS: 30

Mthfr Deficiency malady

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 vascular disease and marfan syndrome. An important gene associated with Mthfr Deficiency is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Carbon metabolism and Selenium Pathway. The drugs betaine and betaine hydrochloride and the compounds 5,10-methenyltetrahydrofolate and b vitamins have been mentioned in the context of this disorder. Affiliated tissues include breast and endothelial.

Aliases & Classifications for Mthfr Deficiency

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61UMLS, 20GeneTests
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Aliases & Descriptions:

mthfr deficiency 20
homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 61
homocystinuria 61


Related Diseases for Mthfr Deficiency

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Mthfr Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1vascular disease30.3CBS
2marfan syndrome30.2CBS
3hyperhomocysteinemia30.2MTHFR, CBS
4venous thrombosis30.1CBS, MTHFR
5homocysteinemia30.0CBS, MTHFR
6thrombophilia30.0MTHFR, CBS
7homocystinuria29.9CBS, MTHFR
8hypercholesterolemia29.7CBS
9protein c deficiency29.7MTHFR
10arteriosclerosis29.7MTHFR
11neural tube defects29.7CBS, MTHFR
12cblc10.5
13homocysteinemia due to mthfr deficiency10.5
14methylmalonic aciduria and homocystinuria type cblf10.4
15megaloblastic anemia10.4
16methylmalonic acidemia with homocystinuria10.3
17homocystinuria caused by cystathionine beta-synthase deficiency10.3
18homocystinuria, b6-responsive and nonresponsive types10.3
19methylmalonic aciduria and homocystinuria type cblc10.3
20homocystinuria due to cbs deficiency10.3
21cble10.3
22homocystinuria, cbld type, variant 110.2
23homocystinuria-megaloblastic anemia, cbl e type10.2
24homocystinuria due to mthfr deficiency10.2
25sagittal sinus thrombosis10.2
26methylmalonic aciduria and homocystinuria type cbld10.2
27methylmalonicacidemia with homocystinuria cbl d10.2
28pyridoxine deficiency10.2
29homocystinuria-megaloblastic anemia, cblg complementation type10.2
30methylmalonic aciduria and homocystinuria, cblj type10.2
31homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type10.1
32phenylketonuria10.1
33n syndrome10.1
34methylmalonic acidemia with homocystinuria, type cblj10.1
35methylmalonic acidemia with homocystinuria, type cblx10.1
36methylmalonic acidemia without homocystinuria10.1
37homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type10.0
38central retinal artery occlusion10.0
39transsexualism10.0
40lens subluxation10.0
41congenital hypothyroidism10.0
42maple syrup urine disease10.0
43cystinuria10.0
44methylmalonic aciduria and homocystinuria type cble10.0
45methylmalonic aciduria and homocystinuria type cblg10.0
46homocystinuria due to defect in methylation cbl e10.0
47homocystinuria due to defect in methylation cbl g10.0
48mthfr gene mutation10.0
49retinal vein occlusion10.0MTHFR
50liver cirrhosis10.0CBS

Graphical network of the top 20 diseases related to Mthfr Deficiency:



Diseases related to mthfr deficiency

Clinical Features for Mthfr Deficiency

Drugs & Therapeutics for Mthfr Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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 UMLS61/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

Sources:
33MalaCards
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MalaCards organs/tissues related to Mthfr Deficiency:

33
Breast, Endothelial

Animal Models for Mthfr Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mthfr Deficiency

Sources:
51PubMed
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Articles related to Mthfr Deficiency:

(show all 23)
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
Interactions between MTHFR C677T-A1298C variants and folic acid deficiency affect breast cancer risk in a Chinese population. (22901194)
2012
5
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. (22848014)
2012
6
Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations. (21131308)
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
Effects of folic acid deficiency and MTHFRC677T polymorphisms on cytotoxicity in human peripheral blood lymphocytes. (19121630)
2009
13
MTHFR polymorphisms involved in vitamin B12 deficiency associated with atrophic gastritis. (19521764)
2009
14
Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. (19609317)
2009
15
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. (18615588)
2008
16
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. (18658082)
2008
17
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. (17449548)
2007
18
Effects of folic acid deficiency and MTHFR C677T polymorphism on spontaneous and radiation-induced micronuclei in human lymphocytes. (16950805)
2006
19
Serum total homocysteine levels and the prevalence of folic acid deficiency and C677T mutation at the MTHFR gene in an indigenous population of Amazonia: the relationship of homocysteine with other cardiovascular risk factors. (15002923)
2004
20
Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine. (12655429)
2003
21
5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency. (12028998)
2002
22
The effect of folic acid deficiency and MTHFR C677T polymorphism on chromosome damage in human lymphocytes in vitro. (11588136)
2001
23
Genetic predisposition to hyperhomocysteinemia: deficiency of methylenetetrahydrofolate reductase (MTHFR). (9198208)
1997

Genetic Variations for Mthfr Deficiency

Expression for genes affiliated with Mthfr Deficiency

Sources:
1BioGPS, 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

Sources:
30KEGG, 38NCBI BioSystems Database, 50PharmGKB
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Pathways related to Mthfr Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1CBS, MTHFR
29.1CBS, MTHFR
3
Hide members
9.1CBS, MTHFR

Compounds for genes affiliated with Mthfr Deficiency

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB
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Compounds related to Mthfr Deficiency according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
15,10-methenyltetrahydrofolate459.5CBS, MTHFR
2b vitamins459.5MTHFR, CBS
3methylcobalamin45 2410.5MTHFR, CBS
4Pyridoxine11 2410.5CBS, MTHFR
55-methyltetrahydrofolate45 1110.5CBS, MTHFR
6betaine45 2410.4MTHFR, CBS
7cystathionine459.4CBS, MTHFR
8methylmalonic acid45 2410.4CBS, MTHFR
9cobalamin45 2410.4MTHFR, CBS
10vitamin b6459.4CBS, MTHFR
11pyridoxal 5-phosphate459.4CBS, MTHFR
12s-adenosylhomocysteine45 2410.4MTHFR, CBS
13vitamin b12459.4CBS, MTHFR
14purine45 2410.3CBS, MTHFR
15thymidylate459.3MTHFR, CBS
16homocysteine45 2410.3CBS, MTHFR
17p002459.2MTHFR, CBS
18s-adenosylmethionine45 11 2411.2CBS, MTHFR
19folate459.1CBS, MTHFR
20fibrinogen459.1CBS, MTHFR
21methotrexate45 50 1111.0MTHFR, CBS
22methionine458.8CBS, MTHFR

GO Terms for genes affiliated with Mthfr Deficiency

Sources:
16Gene Ontology
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Biological processes related to Mthfr Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:0506679.1CBS, MTHFR

Molecular functions related to Mthfr Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:0723419.1CBS, MTHFR

Products for genes affiliated with Mthfr Deficiency

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mthfr Deficiency

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet