MCID: MTH044
MIFTS: 33

Mthfr Gene Mutation malady

Rare diseases category
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Summaries for Mthfr Gene Mutation

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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 based summary: Mthfr Gene Mutation, also known as 5,10-methylenetetrahydrofolate reductase deficiency, is related to hyperhomocysteinemia and congenital heart disease. 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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Mthfr Gene Mutation, Aliases & Descriptions:

Name: Mthfr Gene Mutation 42
5,10-Methylenetetrahydrofolate Reductase Deficiency 62
 
Methylenetetrahydrofolate Reductase Mutation 42


Classifications:

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


Related Diseases for Mthfr Gene Mutation

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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 69)
idRelated DiseaseScoreTop Affiliating Genes
1hyperhomocysteinemia30.4F2, MTHFR, F5
2congenital heart disease30.3MTHFR, F2
3retinal vein occlusion30.3F5, MTHFR
4protein c deficiency30.0F2, MTHFR, F5
5antiphospholipid syndrome30.0F5, MTHFR, F2
6venous thrombosis30.0F2, MTHFR, F5
7hypertension30.0F2, MTHFR, F5
8thrombophilia29.9F2, MTHFR, F5
9neural tube defects10.4
10artery disease10.4
11hemophilia b10.4F2
12aneurysm10.4
13eclampsia10.3MTHFR
14branch retinal artery occlusion10.3F5
15factor xii deficiency10.3F5
16homocysteinemia due to mthfr deficiency10.3
17alzheimer's disease10.2
18atherosclerosis10.2
19diamond-blackfan anemia10.2
20ischemic optic neuropathy10.2
21neonatal stroke10.2
22abdominal aortic aneurysm10.2
23renovascular hypertension10.2
24polyarteritis nodosa10.2
25ovarian hyperstimulation syndrome10.2
26anterior ischemic optic neuropathy10.2
27aortic aneurysm10.2
28neuropathy10.2
29purpura10.2
30retinitis10.2
31osteonecrosis10.1
32open-angle glaucoma10.1
33inflammatory bowel disease10.1
34prothrombin deficiency10.1F2, F5
35factor x deficiency10.1F5, F2
36factor v deficiency10.1F5, F2
37factor xi deficiency10.0F2, F5
38homocysteinemia10.0F5, MTHFR
39central retinal vein occlusion10.0F5, MTHFR
40dysfibrinogenemia10.0F2, F5
41hemorrhagic disease10.0F5, F2
42von willebrand's disease10.0F2, F5
43factor vii deficiency10.0F2, F5
44placental abruption10.0MTHFR, F5
45scott syndrome10.0F2, F5
46hepatic vein thrombosis10.0MTHFR, F5
47factor viii deficiency10.0F2, F5
48afibrinogenemia10.0F2, F5
49intracranial thrombosis10.0MTHFR, F5
50hellp syndrome10.0MTHFR, 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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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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MalaCards organs/tissues related to Mthfr Gene Mutation:

32
Heart, Testes

Animal Models for Mthfr Gene Mutation or affiliated genes

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MGI Mouse Phenotypes related to Mthfr Gene Mutation:

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

Publications for Mthfr Gene Mutation

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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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Expression patterns in normal tissues for genes affiliated with Mthfr Gene Mutation

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Pathways for genes affiliated with Mthfr Gene Mutation

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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 pathway37
9.3MTHFR, F2
2
Show member pathways
9.1F5, F2
3
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
9.1F5, F2
4
Show member pathways
9.1F5, F2

Compounds for genes affiliated with Mthfr Gene Mutation

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Compounds related to Mthfr Gene Mutation according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1inogatran449.6F2, F5
2ecarin449.6F5, F2
3hirugen449.6F2, F5
4spectrozyme449.6F2, F5
5danaparoid449.6F2, F5
6monoethylglycinexylidide449.6F5, F2
7batroxobin449.6F5, F2
8ancrod449.6F2, F5
9ximelagatran44 1110.6F2, F5
10kaolin449.6F2, F5
11heparinoids449.5F2, F5
12fondaparinux449.5F2, F5
13bivalirudin44 1110.5F5, F2
14acenocoumarol44 50 1111.5F5, F2
15desogestrel44 1110.5F5, F2
16argatroban44 1110.5F5, F2
17coumarins449.5F2, F5
18protamine sulfate449.5F5, F2
19gestodene44 1110.5F5, F2
20ofloxacin44 2 1111.5F2, F5
21penicillin449.5F5, F2
22antipyrine44 1110.5F5, F2
23ristocetin449.5F2, F5
24menadione44 24 1111.5MTHFR, F2
25gamma-carboxyglutamic acid449.5F5, F2
26cyproteroneacetate449.5F5, F2
27levonorgestrel44 61 28 1112.5F5, F2
285-methyltetrahydrofolate44 1110.4MTHFR, F5
29coumarin44 2 50 2412.4F5, F2
30desmopressin44 61 28 1112.4F2, F5
31cystathionine449.4MTHFR, F5
32cardiolipin44 1110.4F2, F5
33hirudin449.4F5, F2
34phosphatidylethanolamine44 1110.4F5, F2
35protamine449.3F5, F2
36dermatan sulfate449.3F5, F2
37vitamin b6449.3F5, MTHFR
38kininogen449.2F5, F2
39acetaminophen44 2 50 24 1113.1F2, F5
40vitamin b12449.0F5, MTHFR
41warfarin44 50 24 1112.0F2, MTHFR, F5
42homocysteine44 2410.0F5, F2, MTHFR
43metformin44 50 1110.9F5, MTHFR
44aspirin44 50 28 2411.9F2, MTHFR, F5
45fibrinogen448.9MTHFR, F2, F5
46creatinine448.8F5, F2, MTHFR
47aspartate448.8F5, F2, MTHFR
48heparin44 28 24 1111.8F5, F2, MTHFR
49alanine448.6F2, MTHFR, F5
50estrogen448.2MTHFR, F5, F2

GO Terms for genes affiliated with Mthfr Gene Mutation

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet