MCID: MTH081
MIFTS: 15

Mthfr Gene Variant

Categories: Rare diseases

Aliases & Classifications for Mthfr Gene Variant

MalaCards integrated aliases for Mthfr Gene Variant:

Name: Mthfr Gene Variant 53
Methylenetetrahydrofolate Reductase Variant 53
Methylenetetrahydrofolate Reductase 13

Classifications:



Summaries for Mthfr Gene Variant

NIH Rare Diseases : 53 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. Studies have also found that men and women with two C677T gene variants and elevated homocysteine levels may be at a mild increased risk for blood clots (venous thromboembolism). 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 schizophrenia. An important gene associated with Mthfr Gene Variant is MTHFR (Methylenetetrahydrofolate Reductase). Affiliated tissues include thyroid and colon.

Wikipedia : 76 Methylene tetrahydrofolate reductase (MTHFR) is the rate-limiting enzyme in the methyl cycle, and it is... more...

Related Diseases for Mthfr Gene Variant

Diseases related to Mthfr Gene Variant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 11.3
2 schizophrenia 9.8
3 spondylitis 9.6
4 depression 9.6
5 spondyloarthropathy 1 9.6
6 microvascular complications of diabetes 3 9.6
7 microvascular complications of diabetes 4 9.6
8 microvascular complications of diabetes 6 9.6
9 microvascular complications of diabetes 7 9.6
10 bipolar disorder 9.6

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

Search Clinical Trials , NIH Clinical Center for Mthfr Gene Variant

Genetic Tests for Mthfr Gene Variant

Anatomical Context for Mthfr Gene Variant

MalaCards organs/tissues related to Mthfr Gene Variant:

41
Thyroid, Colon

Publications for Mthfr Gene Variant

Articles related to Mthfr Gene Variant:

(show all 14)
# Title Authors Year
1
The effect of IL-4 and MTHFR gene variants in ankylosing spondylitis. ( 25060515 )
2015
2
Neonatal folate, homocysteine, vitamin B12 levels and methylenetetrahydrofolate reductase variants in childhood asthma and eczema. ( 23692062 )
2013
3
Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: evidence for a common genetic vulnerability? ( 21185933 )
2011
4
Effects of season of birth and a common MTHFR gene variant on the risk of schizophrenia. ( 21093223 )
2011
5
Methylenetetrahydrofolate reductase variants associated with hypertension and cardiovascular disease interact with dietary polyunsaturated fatty acids to modulate plasma homocysteine in puerto rican adults. ( 21270364 )
2011
6
Celiac sprue, hyperhomocysteinemia, and MTHFR gene variants. ( 16917400 )
2006
7
Genetic analysis of the thermolabile methylenetetrahydrofolate reductase variant in schizophrenia and mood disorders. ( 15564899 )
2004
8
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein. ( 15352998 )
2004
9
A relationship between methylenetetrahydrofolate reductase variants and the development of invasive cervical cancer. ( 13678724 )
2003
10
Contribution of thermolabile methylenetetrahydrofolate reductase variant to total plasma homocysteine levels in healthy men and women. Inter99 (2). ( 12687650 )
2003
11
Rapid automated simultaneous screening of (G1691A) Factor V, (G20210A) prothrombin, and (C677T) methylenetetrahydrofolate reductase variants by multiplex PCR using fluorescence scanning technology. ( 12490067 )
2002
12
MTHFR gene variant is not associated with diabetic nephropathy in Japanese. ( 10780391 )
1999
13
High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. ( 10607475 )
1999
14
Methylenetetrahydrofolate reductase variant and schizophrenia/depression. ( 9342205 )
1997

Variations for Mthfr Gene Variant

Expression for Mthfr Gene Variant

Search GEO for disease gene expression data for Mthfr Gene Variant.

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 ExPASy
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28 GO
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30 HGMD
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32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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