MCID: MTH044
MIFTS: 32

Mthfr Gene Mutation malady

Rare diseases category
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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 hyperhomocysteinemia and purpura fulminans. An important gene associated with Mthfr Gene Mutation is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Selenium Pathway and Collagen biosynthesis and modifying enzymes. The compounds inogatran and ecarin have been mentioned in the context of this disorder. Affiliated tissues include heart and testes, and related mouse phenotype integument.

Aliases & Classifications for Mthfr Gene Mutation

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43NIH Rare Diseases, 62UMLS
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Classifications:

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


Aliases & Descriptions:

mthfr gene mutation 43
5,10-methylenetetrahydrofolate reductase deficiency 62
methylenetetrahydrofolate reductase mutation 43


Related Diseases for Mthfr Gene Mutation

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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 71)
idRelated DiseaseScoreTop Affiliating Genes
1hyperhomocysteinemia30.6F2, MTHFR, F5
2purpura fulminans30.4F5
3congenital heart disease30.3MTHFR, F2
4retinal vein occlusion30.3F5, MTHFR
5protein c deficiency30.2F2, MTHFR, F5
6antiphospholipid syndrome30.2F5, MTHFR, F2
7venous thrombosis30.2F2, MTHFR, F5
8hypertension30.2F2, MTHFR, F5
9thrombophilia30.1F2, MTHFR, F5
10coronary artery disease10.4
11artery disease10.4
12neural tube defects10.4
13homocysteinemia due to mthfr deficiency10.3
14renovascular hypertension10.2
15diamond-blackfan anemia10.2
16polyarteritis nodosa10.2
17alzheimer's disease10.2
18abdominal aortic aneurysm10.2
19ovarian hyperstimulation syndrome10.2
20anterior ischemic optic neuropathy10.2
21aortic aneurysm10.2
22atherosclerosis10.2
23neuropathy10.2
24purpura10.2
25retinitis10.2
26neonatal stroke10.2
27aneurysm10.2
28osteonecrosis10.1
29glaucoma10.1
30inflammatory bowel disease10.1
31open-angle glaucoma10.1
32hemophilia b10.1F2
33eclampsia10.1MTHFR
34branch retinal artery occlusion10.1F5
35factor xii deficiency10.1F5
36prothrombin deficiency10.0F2, F5
37factor x deficiency10.0F5, F2
38factor v deficiency10.0F5, F2
39factor xi deficiency10.0F2, F5
40homocysteinemia10.0F5, MTHFR
41central retinal vein occlusion10.0F5, MTHFR
42dysfibrinogenemia10.0F2, F5
43hemorrhagic disease10.0F5, F2
44von willebrand's disease10.0F2, F5
45factor vii deficiency10.0F2, F5
46placental abruption10.0MTHFR, F5
47scott syndrome10.0F2, F5
48hepatic vein thrombosis10.0MTHFR, F5
49factor viii deficiency10.0F2, F5
50afibrinogenemia10.0F2, F5

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



Diseases related to mthfr gene mutation

Symptoms for Mthfr Gene Mutation

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Drugs & Therapeutics for Mthfr Gene Mutation

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Mthfr Gene Mutation

Search NIH Clinical Center for Mthfr Gene Mutation

Genetic Tests for Mthfr Gene Mutation

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Anatomical Context for Mthfr Gene Mutation

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

33
Heart, Testes

Animal Models for Mthfr Gene Mutation or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Mthfr Gene Mutation:

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

Publications for Mthfr Gene Mutation

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52PubMed
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Articles related to Mthfr Gene Mutation:

idTitleAuthorsYear
1
Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation]. (22361411)
2012
2
Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation. (22807619)
2012
3
Plasma homocysteine, MTHFR gene mutation, and open-angle glaucoma. (19142139)
2009
4
Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. (18160591)
2008
5
Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation. (18666857)
2008
6
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation. (17457696)
2007
7
Association of corticosteroids and factor V, prothrombin, and MTHFR gene mutations with avascular osteonecrosis in renal allograft recipients. (16549163)
2006
8
Factor V Leiden, prothrombin G20210A and MTHFR gene mutations in inflammatory bowel disease. (16249980)
2004
9
Detecting MTHFR gene mutation with a new approach: molecular beacons]. (14556201)
2003
10
The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss. (10233370)
1999

Variations for Mthfr Gene Mutation

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Expression for genes affiliated with Mthfr Gene Mutation

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2BioGPS, 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

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50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 30KEGG, 54R&D Systems
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Pathways related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway38
9.3MTHFR, F2
2
Show member pathways
9.1F5, F2
3
Show member pathways
Complement Activation, Classical Pathway38
Complement and Coagulation Cascades38
9.1F5, F2
4
Show member pathways
9.1F5, F2

Compounds for genes affiliated with Mthfr Gene Mutation

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45Novoseek, 11DrugBank, 51PharmGKB, 3BitterDB, 24HMDB, 61Tocris Bioscience, 29IUPHAR
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Compounds related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1inogatran459.6F2, F5
2ecarin459.6F5, F2
3hirugen459.6F2, F5
4spectrozyme459.6F2, F5
5danaparoid459.6F2, F5
6monoethylglycinexylidide459.6F5, F2
7batroxobin459.6F5, F2
8ancrod459.6F2, F5
9ximelagatran45 1110.6F2, F5
10kaolin459.6F2, F5
11heparinoids459.5F2, F5
12fondaparinux459.5F2, F5
13bivalirudin45 1110.5F5, F2
14acenocoumarol45 51 1111.5F5, F2
15desogestrel45 1110.5F5, F2
16argatroban45 1110.5F5, F2
17coumarins459.5F2, F5
18protamine sulfate459.5F5, F2
19gestodene45 1110.5F5, F2
20ofloxacin45 3 1111.5F2, F5
21penicillin459.5F5, F2
22antipyrine45 1110.5F5, F2
23ristocetin459.5F2, F5
24menadione45 24 1111.5MTHFR, F2
25gamma-carboxyglutamic acid459.5F5, F2
26cyproteroneacetate459.5F5, F2
27levonorgestrel45 61 29 1112.5F5, F2
285-methyltetrahydrofolate45 1110.4MTHFR, F5
29coumarin45 3 51 2412.4F5, F2
30desmopressin45 61 29 1112.4F2, F5
31cystathionine459.4MTHFR, F5
32cardiolipin45 1110.4F2, F5
33hirudin459.4F5, F2
34phosphatidylethanolamine45 1110.4F5, F2
35protamine459.3F5, F2
36dermatan sulfate459.3F5, F2
37vitamin b6459.3F5, MTHFR
38kininogen459.2F5, F2
39acetaminophen45 3 51 24 1113.1F2, F5
40vitamin b12459.0F5, MTHFR
41warfarin45 51 24 1112.0F2, MTHFR, F5
42homocysteine45 2410.0F5, F2, MTHFR
43metformin45 51 1110.9F5, MTHFR
44aspirin45 51 29 2411.9F2, MTHFR, F5
45fibrinogen458.9MTHFR, F2, F5
46creatinine458.8F5, F2, MTHFR
47aspartate458.8F5, F2, MTHFR
48heparin45 29 24 1111.8F5, F2, MTHFR
49alanine458.6F2, MTHFR, F5
50estrogen458.2MTHFR, F5, F2

GO Terms for genes affiliated with Mthfr Gene Mutation

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

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:0301689.1F5, F2
2blood circulationGO:0080158.7F5, MTHFR

Molecular functions related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.1F5, F2

Products for genes affiliated with Mthfr Gene Mutation

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Sources for Mthfr Gene Mutation

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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