MCID: MTH081
MIFTS: 27

Mthfr Gene Variant

Categories: Blood diseases, Cancer diseases, 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 homocysteinemia and homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity. An important gene associated with Mthfr Gene Variant is MTHFR (Methylenetetrahydrofolate Reductase). Affiliated tissues include colon, thyroid and kidney.

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:

(show top 50) (show all 255)
# Related Disease Score Top Affiliating Genes
1 homocysteinemia 11.6
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 11.4
3 folate malabsorption, hereditary 11.3
4 arteries, anomalies of 10.7
5 coronary artery anomaly 10.7
6 thrombosis 10.7
7 colorectal cancer 10.6
8 lymphocytic leukemia 10.6
9 leukemia, acute lymphoblastic 10.6
10 breast cancer 10.6
11 leukemia 10.6
12 myocardial infarction 10.5
13 thrombophilia due to thrombin defect 10.5
14 gastric cancer 10.5
15 lung cancer 10.5
16 heart disease 10.5
17 diabetes mellitus 10.4
18 eclampsia 10.4
19 squamous cell carcinoma 10.4
20 infertility 10.4
21 arthritis 10.4
22 male infertility 10.4
23 pre-eclampsia 10.4
24 vascular disease 10.4
25 alzheimer disease 10.4
26 rheumatoid arthritis 10.4
27 diabetes mellitus, noninsulin-dependent 10.4
28 down syndrome 10.3
29 homocystinuria 10.3
30 coronary heart disease 1 10.3
31 acute lymphoblastic leukemia, childhood 10.3
32 polycystic ovary syndrome 10.3
33 retinal vein occlusion 10.3
34 hypertension, essential 10.3
35 prostate cancer 10.3
36 small cell cancer of the lung 10.2
37 microvascular complications of diabetes 5 10.2
38 dementia 10.2
39 thrombophilia 10.2
40 cerebrovascular disease 10.2
41 psoriasis 10.2
42 hepatocellular carcinoma 10.2
43 esophageal cancer 10.2
44 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
45 adenocarcinoma 10.2
46 ischemia 10.2
47 myeloid leukemia 10.2
48 sickle cell disease 10.2
49 cervical intraepithelial neoplasia 10.2
50 oral cancer 10.2

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
Colon, Thyroid, Kidney, Liver, Heart, Breast, Myeloid

Publications for Mthfr Gene Variant

Articles related to Mthfr Gene Variant:

# Title Authors Year
1
Effects of season of birth and a common MTHFR gene variant on the risk of schizophrenia. ( 21093223 )
2011
2
Genetic analysis of the thermolabile methylenetetrahydrofolate reductase variant in schizophrenia and mood disorders. ( 15564899 )
2004
3
The C677T methylenetetrahydrofolate reductase variant and third trimester obstetrical complications in women with unexplained elevations of maternal serum alpha-fetoprotein. ( 15352998 )
2004
4
Contribution of thermolabile methylenetetrahydrofolate reductase variant to total plasma homocysteine levels in healthy men and women. Inter99 (2). ( 12687650 )
2003
5
MTHFR gene variant is not associated with diabetic nephropathy in Japanese. ( 10780391 )
1999
6
High prevalence of the thermolabile methylenetetrahydrofolate reductase variant in Mexico: a country with a very high prevalence of neural tube defects. ( 10607475 )
1999
7
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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....