MCID: MTH081
MIFTS: 10

Mthfr Gene Variant

Categories: Rare diseases

Aliases & Classifications for Mthfr Gene Variant

MalaCards integrated aliases for Mthfr Gene Variant:

Name: Mthfr Gene Variant 20
Methylenetetrahydrofolate Reductase Variant 20

Classifications:



Summaries for Mthfr Gene Variant

GARD : 20 MTHFR is a gene. We all carry two copies of MTHFR. MTHFR tells our body how to create an enzyme involved in breaking down the amino acid homocysteine. As is true for any gene, the DNA code of the MTHFR gene can vary. When we identify a part of the sequence that varies, we call it a "variant." Genetic research aims to identify specific variants that cause harm or benefit to health. There are two MTHFR gene variants, called C677T and A1298C, that have been an active area of study. These variants are common. In America, about 25% of people who are Hispanic, and 10-15% of people who are Caucasian have two copies of C677T. Studies have found that women with two C677T gene variants have an increased risk for having a child with a neural tube defect. Very high homocysteine levels rarely result from having two common variants alone. People with very high homocysteine levels should be carefully evaluated for other factors known to affect homocysteine. Doing so may bring to light dietary deficiencies, thyroid disease, diabetes, high cholesterol, or life-style factors (physical inactivity, smoking and obesity) which can impact homocystine levels. If high levels of homocysteine cannot be explained by these factors, a consultation with a genetics professional may be helpful in identifying rare genetic causes of the high homocysteine. To learn more about rare genetic causes, visit: Homocystinuria due to MTHFR Deficiency.

MalaCards based summary : Mthfr Gene Variant, also known as methylenetetrahydrofolate reductase variant, is related to homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity and neural tube defects. An important gene associated with Mthfr Gene Variant is MTHFR (Methylenetetrahydrofolate Reductase).

Related Diseases for Mthfr Gene Variant

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



Diseases related to Mthfr Gene Variant

Symptoms & Phenotypes for Mthfr Gene Variant

Drugs & Therapeutics for Mthfr Gene Variant

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Genetic Tests for Mthfr Gene Variant

Anatomical Context for Mthfr Gene Variant

Publications for Mthfr Gene Variant

Articles related to Mthfr Gene Variant:

(show all 28)
# Title Authors PMID Year
1
MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature. 20
27130656 2016
2
Methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism: epidemiology, metabolism and the associated diseases. 20
25449138 2015
3
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. 20
23288205 2013
4
Thromboepidemiology: identifying patients with heritable risk for thrombin-mediated thromboembolic events. 20
15644796 2005
5
Geographical and ethnic variation of the 677C>T allele of 5,10 methylenetetrahydrofolate reductase (MTHFR): findings from over 7000 newborns from 16 areas world wide. 20
12920077 2003
6
Venous thromboembolism associated with hyperhomocysteinemia, homozygosity for the methylenetetrahydrofolate reductase 677C>T gene variant, and secondary polycythemia. 61
32004198 2020
7
Laboratory biomarkers for venous thromboembolism risk in patients with hematologic malignancies: A review. 61
29407626 2018
8
Association between MTHFR variant and diabetic neuropathy. 61
29222982 2018
9
UV-associated decline in systemic folate: implications for human nutrigenetics, health, and evolutionary processes. 61
27771938 2017
10
[A case of vascular parkinsonism associated with hyperhomocysteinemia and methylenetetrahydrofolate reductase gene variant (C677T)]. 61
26797478 2016
11
Maternal homocysteine in pregnancy and offspring birthweight: epidemiological associations and Mendelian randomization analysis. 61
25052622 2014
12
Association of Transforming Growth Factor Alpha and Methylenetetrahydrofolate reductase gene variants with nonsyndromic cleft lip and palate in the Indian population. 61
25191068 2014
13
Agenesis of the internal carotid artery: associated malformations including a high rate of aortic and cardiac malformations. 61
22847749 2012
14
Association of methylenetetrahydrofolate reductase (MTHFR 677C>T) and thymidylate synthase (TSER and TS 1494del6) polymorphisms with premature ovarian failure in Korean women. 61
22713864 2012
15
Effects of season of birth and a common MTHFR gene variant on the risk of schizophrenia. 61
21093223 2011
16
Analysis of the MTHFR C677T variant with migraine phenotypes. 61
20663228 2010
17
High plasma homocysteine levels contribute to the risk of stroke recurrence and all-cause mortality in a large prospective stroke population. 61
19515015 2009
18
C677T methylenetetrahydrofolate reductase gene polymorphisms in bipolar disorder: an association study in the Chinese population and a meta-analysis of genetic association studies. 61
18983889 2009
19
Impact of methylenetetrahydrofolate reductase (MTHFR) codon (677) and methionine synthase (MS) codon (2756) on risk of cervical carcinogenesis in North Indian population. 61
18351371 2008
20
Risk factors of venous thromboembolism in thai patients. 61
18192106 2007
21
Genetic analysis of the thermolabile methylenetetrahydrofolate reductase variant in schizophrenia and mood disorders. 61
15564899 2004
22
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein. 61
15352998 2004
23
Contribution of thermolabile methylenetetrahydrofolate reductase variant to total plasma homocysteine levels in healthy men and women. Inter99 (2). 61
12687650 2003
24
[Relationship between methylenetetrahydrofolate reductase gene polymorphism and diabetic nephropathy]. 61
11484165 2001
25
A pilot study of the possible role of familial defects in anticoagulation as a cause for terminal limb reduction malformations. 61
10782926 2000
26
High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. 61
10607475 1999
27
MTHFR gene variant is not associated with diabetic nephropathy in Japanese. 61
10780391 1999
28
Methylenetetrahydrofolate reductase variant and schizophrenia/depression. 61
9342205 1997

Variations for Mthfr Gene Variant

Expression for Mthfr Gene Variant

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Pathways for Mthfr Gene Variant

GO Terms for Mthfr Gene Variant

Sources for Mthfr Gene Variant

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
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45 MESH via Orphanet
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54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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