MCID: MTH044
MIFTS: 25

Mthfr Gene Mutation malady

Rare diseases category

Summaries for Mthfr Gene Mutation

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NIH Rare Diseases:41 Mthfr gene mutation is a genetic change that disrupts the production of an enzyme that plays an important role in breaking down the amino acid homocysteine (a building block of protein). these mutations may cause a mild to severe loss of activity of this enzyme that can lead to elevated levels of homocysteine in the blood and/or urine. some rare mthfr gene mutations severely impair the function of this enzyme and lead to homocystinuria, an autosomal recessive condition characterized by various health problems including abnormal clotting and neurological problems (developmental delay, seizures, intellectual disability and microcephaly). other more common mthfr gene mutations (known as c677t and a1298c) lead to a milder reduction in enzyme function. people with two copies of c677t or one copy of c677t and one copy of a1298c may have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. although c677t and a1298c mutations can be associated with an increased risk, many people who inherit them will never develop one of the associated conditions. last updated: 12/10/2014

MalaCards based summary: Mthfr Gene Mutation, also known as methylenetetrahydrofolate reductase mutation, is related to branch retinal artery occlusion and budd-chiari syndrome. 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 hirugen have been mentioned in the context of this disorder. Related mouse phenotype integument.

Aliases & Classifications for Mthfr Gene Mutation

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Mthfr Gene Mutation, Aliases & Descriptions:

Name: Mthfr Gene Mutation 41
 
Methylenetetrahydrofolate Reductase Mutation 41


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 Suite gene sharing:

(show top 50)    (show all 71)
idRelated DiseaseScoreTop Affiliating Genes
1branch retinal artery occlusion30.7F5
2budd-chiari syndrome30.5MTHFR, F5
3hyperhomocysteinemia30.4F2, MTHFR, F5
4nonarteritic anterior ischemic optic neuropathy30.3MTHFR, F5
5retinal vein occlusion30.3F5, MTHFR
6congenital heart disease30.3MTHFR, F2
7protein c deficiency30.0F2, MTHFR, F5
8antiphospholipid syndrome30.0F5, MTHFR, F2
9thrombophilia29.9F2, MTHFR, F5
10neural tube defects10.4
11coronary artery disease10.4
12artery disease10.4
13retinitis10.4
14aneurysm10.4
15hemophilia b10.3F2
16eclampsia10.3MTHFR
17homocysteinemia due to mthfr deficiency10.3
18factor xiii deficiency10.3F5
19factor xii deficiency10.3F5
20factor viii deficiency10.3F5
21ovarian hyperstimulation syndrome10.2
22atherosclerosis10.2
23diamond-blackfan anemia10.2
24ischemic optic neuropathy10.2
25neonatal stroke10.2
26renovascular hypertension10.2
27polyarteritis nodosa10.2
28abdominal aortic aneurysm10.2
29aortic aneurysm10.2
30neuropathy10.2
31purpura10.2
32retinal artery occlusion10.2
33osteonecrosis10.1
34open-angle glaucoma10.1
35inflammatory bowel disease10.1
36hypoprothrombinemia10.1F2, F5
37factor x deficiency10.0F5, F2
38factor v deficiency10.0F5, F2
39factor xi deficiency, autosomal recessive10.0F2, 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
48hemophilia a10.0F2, F5
49afibrinogenemia10.0F2, F5
50intracranial thrombosis10.0MTHFR, 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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Animal Models for Mthfr Gene Mutation or affiliated genes

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MGI Mouse Phenotypes related to Mthfr Gene Mutation:

35
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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Search GEO for disease gene expression data for Mthfr Gene Mutation.

Pathways for genes affiliated with Mthfr Gene Mutation

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Pathways related to Mthfr Gene Mutation according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
9.3MTHFR, F2
2
Show member pathways
9.1F5, F2
3
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
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 Suite gene sharing:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1inogatran439.6F2, F5
2hirugen439.6F5, F2
3ecarin439.6F5, F2
4spectrozyme439.6F2, F5
5danaparoid439.6F2, F5
6monoethylglycinexylidide439.6F2, F5
7batroxobin439.6F2, F5
8kaolin439.6F2, F5
9ximelagatran43 1210.6F2, F5
10ancrod439.6F2, F5
11heparinoids439.5F5, F2
12fondaparinux439.5F5, F2
13acenocoumarol43 49 1211.5F2, F5
14bivalirudin43 1210.5F2, F5
15coumarins439.5F2, F5
16desogestrel43 1210.5F2, F5
17argatroban43 1210.5F2, F5
18protamine sulfate439.5F2, F5
19gestodene43 1210.5F5, F2
20ofloxacin43 2 1211.5F2, F5
21penicillin439.5F5, F2
22antipyrine43 1210.5F5, F2
23ristocetin439.5F5, F2
24menadione43 24 1211.5MTHFR, F2
25gamma-carboxyglutamic acid439.5F2, F5
26cyproteroneacetate439.5F5, F2
27levonorgestrel43 59 28 1212.5F5, F2
285-methyltetrahydrofolate43 1210.4MTHFR, F5
29coumarin43 2 49 2412.4F5, F2
30desmopressin43 59 28 1212.4F5, F2
31cystathionine439.4F5, MTHFR
32cardiolipin43 1210.4F2, F5
33hirudin439.4F5, F2
34phosphatidylethanolamine43 1210.4F5, F2
35protamine439.3F2, F5
36dermatan sulfate439.3F5, F2
37vitamin b6439.3MTHFR, F5
38kininogen439.2F5, F2
39acetaminophen43 2 49 24 1213.1F5, F2
40vitamin b12439.0MTHFR, F5
41warfarin43 49 24 1212.0F5, MTHFR, F2
42homocysteine43 2410.0F5, MTHFR, F2
43metformin43 49 1210.9MTHFR, F5
44aspirin43 49 28 2411.9F2, MTHFR, F5
45fibrinogen438.9F5, MTHFR, F2
46creatinine438.8F2, MTHFR, F5
47aspartate438.8F5, MTHFR, F2
48heparin43 28 24 1211.8F2, MTHFR, F5
49alanine438.6F2, MTHFR, F5
50estrogen438.2F5, MTHFR, F2

GO Terms for genes affiliated with Mthfr Gene Mutation

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Biological processes related to Mthfr Gene Mutation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301689.1F5, F2
2blood circulationGO:00080158.7F5, MTHFR

Molecular functions related to Mthfr Gene Mutation according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00042529.1F5, 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
33MeSH
34MESH via Orphanet
35MGI
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39NDF-RT
42NINDS
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46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet