MCID: MTH044
MIFTS: 25

Mthfr Gene Mutation malady

Summaries for Mthfr Gene Mutation

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 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 hyperhomocysteinemia. 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 heart and testes, and related mouse phenotype integument.

Aliases & Classifications for Mthfr Gene Mutation

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42NIH Rare Diseases, 60UMLS
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Aliases & Descriptions:

mthfr gene mutation 42
5,10-methylenetetrahydrofolate reductase deficiency 60
methylenetetrahydrofolate reductase mutation 42


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 86)
idRelated DiseaseScoreTop Affiliating Genes
1homocystinuria30.9F5, MTHFR
2hyperhomocysteinemia30.5F2, F5, MTHFR
3ovarian hyperstimulation syndrome30.2F5
4atherosclerosis30.2MTHFR
5retinal vein occlusion30.2MTHFR, F5
6protein c deficiency30.2F5, MTHFR, F2
7antiphospholipid syndrome30.2F5, MTHFR, F2
8hypertension30.2F2, F5, MTHFR
9stroke, ischemic30.0MTHFR, F5
10thrombophilia30.0F5, MTHFR, F2
11coronary artery disease10.4
12brain disease10.2
13hydrocephalus10.2
14polyneuropathy10.2
15vitamin b12 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
23alzheimer's disease10.2
24ischemic optic neuropathy10.2
25aortic aneurysm10.2
26neuropathy10.2
27purpura10.2
28retinitis10.2
29osteonecrosis10.1
30glaucoma10.1
31inflammatory bowel disease10.1
32open-angle glaucoma10.1
33varicose veins10.0F2
34thrombocytosis10.0F2
35neural tube defects10.0MTHFR
36cerebrovascular disease10.0MTHFR
37migraine10.0MTHFR
38hepatitis a10.0F2
39deficiency anemia10.0F2
40eclampsia10.0MTHFR
41coronary heart disease10.0MTHFR
42purpura fulminans10.0F5
43patent foramen ovale10.0F5
44hepatitis c10.0F2
45branch retinal artery occlusion10.0F5
46diabetes mellitus10.0MTHFR
47retinal vascular occlusion10.0F5
48viral hepatitis10.0F2
49factor xii deficiency10.0F5
50colon cancer10.0MTHFR

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



Diseases related to mthfr gene mutation

Clinical Features for Mthfr Gene Mutation

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Drugs & Therapeutics for Mthfr Gene Mutation

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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32MalaCards
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MalaCards organs/tissues related to Mthfr Gene Mutation:

32
Heart, Testes

Animal Models for Mthfr Gene Mutation or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Mthfr Gene Mutation:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5F2, MTHFR, F5

Publications for Mthfr Gene Mutation

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Genetic Variations for Mthfr Gene Mutation

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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

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37NCBI BioSystems Database, 29KEGG, 53Reactome, 52R&D Systems, 51QIAGEN
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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

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 49PharmGKB, 2BitterDB, 59Tocris Bioscience
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Compounds related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1heparin44 28 11 2413.2MTHFR
2monoethylglycinexylidide4410.1F5
3inogatran449.6F2, F5
4ecarin449.6F5, F2
5hirugen449.6F5, F2
6spectrozyme449.6F2, F5
7batroxobin449.6F5, F2
8danaparoid449.6F5, F2
9kaolin449.6F5, F2
10ancrod449.6F5, F2
11ximelagatran44 1110.6F5, F2
12heparinoids449.6F2, F5
13aprotinin44 1110.6F5
14fondaparinux449.5F2, F5
15Drotrecogin alfa119.5F5, F2
16acenocoumarol44 49 1111.5F5, F2
17bivalirudin44 1110.5F5, F2
18menadione44 11 2411.5F2, MTHFR
19argatroban44 1110.5F5, F2
20desogestrel44 1110.5F5, F2
21protamine sulfate449.5F2, F5
22gestodene44 1110.5F2, F5
23ofloxacin44 2 1111.5F5, F2
24penicillin449.5F2, F5
25antipyrine44 1110.5F2, F5
26ristocetin449.5F2, F5
27gamma-carboxyglutamic acid449.5F5, F2
28cyproteroneacetate449.5F2, F5
29levonorgestrel44 59 28 1112.5F2, F5
305-methyltetrahydrofolate44 1110.4F5, MTHFR
31coumarin44 2 49 2412.4F5, F2
32desmopressin44 59 28 1112.4F5, F2
33cystathionine449.4MTHFR, F5
34hirudin449.4F5, F2
35phosphatidylethanolamine44 1110.4F2, F5
36protamine449.4F2, F5
37dermatan sulfate449.4F5, F2
38vitamin b6449.3MTHFR, F5
39kininogen449.3F2, F5
40metformin44 49 1111.2F5, MTHFR
41vitamin b12449.1MTHFR, F5
42pge1449.1F5, F2
43polyethylene glycol449.1F2, F5
44homocysteine44 2410.0F2, MTHFR, F5
45aspirin44 49 28 2411.9F5, MTHFR, F2
46fibrinogen448.9F5, MTHFR, F2
47creatinine448.8F5, MTHFR, F2
48aspartate448.8F2, MTHFR, F5
49uric acid44 249.7MTHFR, F5
50alanine448.6F2, MTHFR, F5

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
1blood circulationGO:0080159.0MTHFR, F5

Products for genes affiliated with Mthfr Gene Mutation

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Sources for Mthfr Gene Mutation

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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet