MCID: MTH044
MIFTS: 32

Mthfr Gene Mutation malady

Summaries for Mthfr Gene Mutation

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43NIH Rare Diseases, 33MalaCards
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NIH Rare Diseases:43 The mthfr gene provides the instructions for making the mthfr enzyme, which plays a role in converting the amino acid homocysteine to methionine. a change in a gene is called a mutation or a polymorphism. some changes in the mthfr gene are very common, such as the c677t mutation or the a1298c mutation. these mutations result in a version of the mthfr enzyme that has a mildly to moderately reduced function. there are also rare mutations in the mthfr gene that severely impair the enzyme and cause a rare disease called homocystinuria. people with a personal or family history of heart disease or blood clots may be tested for the common mthfr gene mutations. because each person has two copies of the mthfr gene, it is possible to have one or two mthfr gene mutations. if you have two mutations, you are said to be homozygous. if you have one mutation, you are heterozygous. individuals with two c677t mutations and people with one c677t and one a1298c mutation have an increased risk of developing blood clots. having this increased risk does not mean that a person will develop a clot, as many people with mthfr gene mutations never do. last updated: 9/18/2012

MalaCards: Mthfr Gene Mutation, also known as 5,10-methylenetetrahydrofolate reductase deficiency, is related to homocystinuria and neural tube defects. An important gene associated with Mthfr Gene Mutation is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Selenium Pathway and Complement and coagulation cascades. The compounds heparin and monoethylglycinexylidide have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and colon, and related mouse phenotype integument.

Aliases & Classifications for Mthfr Gene Mutation

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43NIH Rare Diseases, 61UMLS
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Aliases & Descriptions:

mthfr gene mutation 43
5,10-methylenetetrahydrofolate reductase deficiency 61
methylenetetrahydrofolate reductase mutation 43


Related Diseases for Mthfr Gene Mutation

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

(show top 50)    (show all 84)
idRelated DiseaseScoreTop Affiliating Genes
1homocystinuria30.9MTHFR, F5
2neural tube defects30.6MTHFR
3hyperhomocysteinemia30.6F2, MTHFR, F5
4purpura fulminans30.2F5
5ovarian hyperstimulation syndrome30.2F5
6atherosclerosis30.2MTHFR
7protein c deficiency30.2F2, MTHFR, F5
8venous thrombosis30.2F5, MTHFR, F2
9antiphospholipid syndrome30.2F5, MTHFR, F2
10protein s deficiency30.2F2, MTHFR, F5
11stroke, ischemic30.0F5, MTHFR
12thrombophilia30.0F5, MTHFR, F2
13coronary artery disease,10.4
14brain disease10.2
15pyridoxine deficiency10.2
16mthfr thermolabile variant10.2
17homocysteinemia due to mthfr deficiency10.2
18diamond-blackfan anemia10.2
19renovascular hypertension10.2
20ischemic neuropathy10.2
21polyarteritis nodosa10.2
22abdominal aortic aneurysm10.2
23ischemic optic neuropathy10.2
24n syndrome10.2
25aortic aneurysm10.2
26optic neuropathy, anterior ischemic10.2
27neonatal stroke10.2
28protein r deficiency10.2
29nonarteritic anterior ischemic optic neuropathy10.2
30klinefelter's syndrome10.1
31osteonecrosis10.1
32young syndrome10.1
33varicose veins10.0F2
34thrombocytosis10.0F2
35cerebrovascular disease10.0MTHFR
36migraine10.0MTHFR
37hepatitis a10.0F2
38deficiency anemia10.0F2
39eclampsia10.0MTHFR
40coronary heart disease10.0MTHFR
41patent foramen ovale10.0F5
42hepatitis c10.0F2
43branch retinal artery occlusion10.0F5
44diabetes mellitus10.0MTHFR
45retinal vascular occlusion10.0F5
46viral hepatitis10.0F2
47factor xii deficiency10.0F5
48colon cancer10.0MTHFR
49rheumatoid arthritis10.0MTHFR
50prothrombin deficiency10.0F2, F5

Graphical network of the top 20 diseases related to Mthfr Gene Mutation:



Diseases related to mthfr gene mutation

Clinical Features for Mthfr Gene Mutation

Drugs & Therapeutics for Mthfr Gene Mutation

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Mthfr Gene Mutation

Anatomical Context for Mthfr Gene Mutation

Sources:
33MalaCards
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MalaCards organs/tissues related to Mthfr Gene Mutation:

33
Skin, Heart, Colon, Breast, T cells, Endothelial

Animal Models for Mthfr Gene Mutation or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Mthfr Gene Mutation:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5F2, MTHFR, F5

Publications for Mthfr Gene Mutation

Sources:
51PubMed
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Articles related to Mthfr Gene Mutation:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Association of MTHFR gene C677T mutation with diabetic peripheral neuropathy and diabetic retinopathy. (23901246)
2013
2
MTHFR gene C677T mutation and ACE gene I/D polymorphism in Turkish patients with osteoarthritis. (23089924)
2013
3
Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation]. (22361411)
2012
4
Mutational analysis of the MTHFR gene in breast cancer patients of Pakistani population. (22799374)
2012
5
Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation. (22807619)
2012
6
Divergent effects of the 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness and anti-MA1llerian hormone concentrations. (21481373)
2011
7
Combined portal, splenic and mesenteric venous thrombosis in inactive ulcerative colitis with heterozygous mutation in MTHFR gene: A rare case of thrombophilia. (22973354)
2011
8
The role of 1691G>A (Leiden) mutation in Factor V gene, 20210G>A in prothrombin gene and 677C>T in MTHFR gene in etiology of early pregnancy loss]. (21853935)
2011
9
Combined effect of Factor V Leiden, MTHFR, and angiotensin-converting enzyme (insertion/deletion) gene mutations in hypertensive adult individuals: a population-based study from Sivas and Canakkale, Turkey. (21699409)
2011
10
Plasma homocysteine level and 677C-->T mutation on the MTHFR gene in patients with venous thromboembolism. (20429317)
2010
11
Treatment of erectile dysfunction due to C677T mutation of the MTHFR gene with vitamin B6 and folic acid in patients non responders to PDE5i. (19694922)
2010
12
Correlation between C677T and A1298C mutations of the MTHFR gene and therapeutic prognostic elements in colorectal cancer]. (20726304)
2010
13
C677T and A1298C mutations in the MTHFR gene and survival in colorectal cancer. (20076818)
2009
14
The prevalence of factor V (G1691A), MTHFR (C677T) and PT (G20210A) gene mutations in arterial thrombosis. (19353312)
2009
15
Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. (18160591)
2008
16
Compound heterozygosity for the C677T and A1298C mutations of the MTHFR gene in a case of hyperhomocysteinemia with recurrent deep thrombosis at young age. (19366086)
2008
17
Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation. (18666857)
2008
18
Could the C677T mutation in the MTHFR gene be another genetic cause of arrhythmogenic right ventricular dysplasia? (16680746)
2006
19
Homozygous MTHFR C677T gene mutation and recurrent stroke in an infant. (16814086)
2006
20
Stromelysin-1 5A/6A and eNOS T-786C polymorphisms, MTHFR C677T and A1298C mutations, and cigarette-cannabis smoking: a pilot, hypothesis-generating study of gene-environment pathophysiological associations with Buerger's disease. (17000887)
2006
21
A case control study on the contribution of factor V-Leiden, prothrombin G20210A, and MTHFR C677T mutations to the genetic susceptibility of deep venous thrombosis. (16082606)
2005
22
MTHFR C677T gene mutation as a risk factor for arterial stroke: a hospital based study. (15613145)
2005
23
MTHFR variants reduce the risk of G:C->A:T transition mutations within the p53 tumor suppressor gene in colon tumors. (16177213)
2005
24
A bacterial model for studying effects of human mutations in vivo: Escherichia coli strains mimicking a common polymorphism in the human MTHFR gene. (15961124)
2005
25
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
26
-455G/A beta-fibrinogen gene polymorphism, factor V Leiden, prothrombin G20210A mutation and MTHFR C677T, and placental vascular complications. (15091001)
2004
27
Factor V Leiden, prothrombin G20210A and MTHFR gene mutations in inflammatory bowel disease. (16249980)
2004
28
A C677T methylenetetrahydrofolate reductase (MTHFR) polymorphism and G20210A mutation in the prothrombin gene of sickle cell anemia patients from Northeast Brazil. (15481892)
2004
29
Mutations of the MTHFR gene (428C>T and [458G>T+459C>T]) markedly decrease MTHFR enzyme activity. (15048559)
2004
30
Specific APO E genotypes in combination with the ACE D/D or MTHFR 677TT mutation yield an independent genetic risk of leukoaraiosis. (14763962)
2004
31
Differences in the frequency of the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene among the Lebanese population. (15114606)
2004
32
Detecting MTHFR gene mutation with a new approach: molecular beacons]. (14556201)
2003
33
Homozygous C677T mutation in the MTHFR gene as an independent risk factor for multiple small artery occlusions. (15041282)
2003
34
Deep vein thrombosis after orthopedic surgery in a patient with type 1 von Willebrand disease and mutations in the MTHFR and beta-fibrinogen genes. (14597997)
2003
35
Premature arterial and venous events in three families. Effect of folate levels and MTHFR mutation mediated by family/generation and homocysteine levels. (11958800)
2002
36
Mutations of MTHFR, MTR, MTRR genes as high risk factors for neural tube defects]. (12810988)
2002
37
Factor V gene G1691A mutation, prothrombin gene G20210A mutation, and MTHFR gene C677T mutation are not risk factors for pulmonary thromboembolism in Chinese population. (12165282)
2002
38
Metabolic effects of C677T and A1298C mutations at the MTHFR gene in Brazilian children with neural tube defects. (11880124)
2002
39
Mutations in the factor V, prothrombin and MTHFR genes are not risk factors for recurrent fetal loss. (12380673)
2002
40
Mutations in the genes regulating methylene tetrahydrofolate reductase (MTHFR C-->T677) and cystathione beta-synthase (CBS G-->A919, CBS T-->c833) are not associated with myocardial infarction in African Americans. (11457468)
2001
41
The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene and vascular dementia. (10855603)
2000
42
The role of vitamin B12 in fasting hyperhomocysteinemia and its interaction with the homozygous C677T mutation of the methylenetetrahydrofolate reductase (MTHFR) gene. A case-control study of patients with early-onset thrombotic events. (10780318)
2000
43
The relation between erythrocyte volume and folate levels is influenced by a common mutation in the methylenetetrahydrofolate reductase (MTHFR) gene (C677T). (10695265)
2000
44
Characterization of six novel mutations in the methylenetetrahydrofolate reductase (MTHFR) gene in patients with homocystinuria. (10679944)
2000
45
The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss. (10233370)
1999
46
Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene. (10563481)
1999
47
Mortality risk in men is associated with a common mutation in the methylene-tetrahydrofolate reductase gene (MTHFR). (10196703)
1999
48
The relationship of mutations in the MTHFR, prothrombin, and PAI-1 genes to plasma levels of homocysteine, prothrombin, and PAI-1 in children and adults. (10365747)
1999
49
Is the coexistence of mutations in the genes of factor V and MTHFR a predisposing factor for massive skin necrosis due to loxoscelism? (10444964)
1998
50
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR. (8940272)
1996

Genetic Variations for Mthfr Gene Mutation

Expression for genes affiliated with Mthfr Gene Mutation

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mthfr Gene Mutation

Search GEO for disease gene expression data for Mthfr Gene Mutation.

Pathways for genes affiliated with Mthfr Gene Mutation

Sources:
38NCBI BioSystems Database, 30KEGG, 54Reactome, 53R&D Systems, 52QIAGEN
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Pathways related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3F2, MTHFR
2
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9.1F2, F5
3
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9.1F2, F5
4
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9.1F2, F5

Compounds for genes affiliated with Mthfr Gene Mutation

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB, 2BitterDB, 60Tocris Bioscience
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Compounds related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1heparin45 29 11 2413.2MTHFR
2monoethylglycinexylidide4510.1F5
3inogatran459.6F5, F2
4ecarin459.6F2, F5
5hirugen459.6F2, F5
6spectrozyme459.6F2, F5
7danaparoid459.6F2, F5
8batroxobin459.6F2, F5
9ancrod459.6F5, F2
10ximelagatran45 1110.6F5, F2
11kaolin459.6F2, F5
12heparinoids459.6F5, F2
13aprotinin45 1110.6F5
14fondaparinux459.5F2, F5
15bivalirudin45 1110.5F5, F2
16acenocoumarol45 50 1111.5F5, F2
17Drotrecogin alfa119.5F5, F2
18menadione45 11 2411.5F2, MTHFR
19argatroban45 1110.5F2, F5
20desogestrel45 1110.5F2, F5
21protamine sulfate459.5F5, F2
22gestodene45 1110.5F5, F2
23ofloxacin45 2 1111.5F5, F2
24penicillin459.5F2, F5
25antipyrine45 1110.5F5, F2
26ristocetin459.5F5, F2
27gamma-carboxyglutamic acid459.5F5, F2
28cyproteroneacetate459.5F5, F2
29levonorgestrel45 60 29 1112.5F2, F5
305-methyltetrahydrofolate45 1110.4MTHFR, F5
31desmopressin45 60 29 1112.4F2, F5
32coumarin45 2 50 2412.4F2, F5
33cystathionine459.4MTHFR, F5
34hirudin459.4F2, F5
35phosphatidylethanolamine45 1110.4F2, F5
36protamine459.4F5, F2
37dermatan sulfate459.4F2, F5
38vitamin b6459.3MTHFR, F5
39kininogen459.3F2, F5
40metformin45 50 1111.2F5, MTHFR
41vitamin b12459.1MTHFR, F5
42pge1459.1F5, F2
43polyethylene glycol459.1F5, F2
44homocysteine45 2410.0F2, F5, MTHFR
45aspirin45 50 29 2411.9F5, F2, MTHFR
46fibrinogen458.9F5, MTHFR, F2
47creatinine458.8F2, MTHFR, F5
48aspartate458.8F2, F5, MTHFR
49uric acid45 249.7MTHFR, F5
50alanine458.6MTHFR, F5, F2

GO Terms for genes affiliated with Mthfr Gene Mutation

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

idNameGO IDScoreTop Affiliating Genes
1blood circulationGO:0080159.0MTHFR, F5

Products for genes affiliated with Mthfr Gene Mutation

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Sources for Mthfr Gene Mutation

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