MCID: MTH044
MIFTS: 32

Mthfr Gene Mutation malady

Rare diseases category

Summaries for Mthfr Gene Mutation

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 63UMLS
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Classifications:

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Global: Rare diseases


Aliases & Descriptions:

mthfr gene mutation 44
5,10-methylenetetrahydrofolate reductase deficiency 63
methylenetetrahydrofolate reductase mutation 44


Related Diseases for Mthfr Gene Mutation

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18GeneCards, 19GeneDecks
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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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Mthfr Gene Mutation

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Anatomical Context for Mthfr Gene Mutation

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34MalaCards
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MalaCards organs/tissues related to Mthfr Gene Mutation:

34
Heart, Testes

Animal Models for Mthfr Gene Mutation or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Mthfr Gene Mutation:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5F5, MTHFR, F2

Publications for Mthfr Gene Mutation

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53PubMed
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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, 16Gene 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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51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 55R&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 pathway39
9.3MTHFR, F2
2
Show member pathways
9.1F5, F2
3
Show member pathways
Complement Activation, Classical Pathway39
Complement and Coagulation Cascades39
9.1F5, F2
4
Show member pathways
9.1F5, F2

Compounds for genes affiliated with Mthfr Gene Mutation

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46Novoseek, 12DrugBank, 52PharmGKB, 3BitterDB, 25HMDB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1inogatran469.6F2, F5
2ecarin469.6F5, F2
3hirugen469.6F2, F5
4spectrozyme469.6F2, F5
5danaparoid469.6F2, F5
6monoethylglycinexylidide469.6F5, F2
7batroxobin469.6F5, F2
8ancrod469.6F2, F5
9ximelagatran46 1210.6F2, F5
10kaolin469.6F2, F5
11heparinoids469.5F2, F5
12fondaparinux469.5F2, F5
13bivalirudin46 1210.5F5, F2
14acenocoumarol46 52 1211.5F5, F2
15desogestrel46 1210.5F5, F2
16argatroban46 1210.5F5, F2
17coumarins469.5F2, F5
18protamine sulfate469.5F5, F2
19gestodene46 1210.5F5, F2
20ofloxacin46 3 1211.5F2, F5
21penicillin469.5F5, F2
22antipyrine46 1210.5F5, F2
23ristocetin469.5F2, F5
24menadione46 25 1211.5MTHFR, F2
25gamma-carboxyglutamic acid469.5F5, F2
26cyproteroneacetate469.5F5, F2
27levonorgestrel46 62 30 1212.5F5, F2
285-methyltetrahydrofolate46 1210.4MTHFR, F5
29coumarin46 3 52 2512.4F5, F2
30desmopressin46 62 30 1212.4F2, F5
31cystathionine469.4MTHFR, F5
32cardiolipin46 1210.4F2, F5
33hirudin469.4F5, F2
34phosphatidylethanolamine46 1210.4F5, F2
35protamine469.3F5, F2
36dermatan sulfate469.3F5, F2
37vitamin b6469.3F5, MTHFR
38kininogen469.2F5, F2
39acetaminophen46 3 52 25 1213.1F2, F5
40vitamin b12469.0F5, MTHFR
41warfarin46 52 25 1212.0F2, MTHFR, F5
42homocysteine46 2510.0F5, F2, MTHFR
43metformin46 52 1210.9F5, MTHFR
44aspirin46 52 30 2511.9F2, MTHFR, F5
45fibrinogen468.9MTHFR, F2, F5
46creatinine468.8F5, F2, MTHFR
47aspartate468.8F5, F2, MTHFR
48heparin46 30 25 1211.8F5, F2, MTHFR
49alanine468.6F2, MTHFR, F5
50estrogen468.2MTHFR, F5, F2

GO Terms for genes affiliated with Mthfr Gene Mutation

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet