NIH Rare Diseases:46 Mthfr gene mutation is a genetic change that affects an enzyme involved in breaking down the amino acid, homocysteine. roughly 33% of americans carry one copy of a common mthfr gene mutation (c677t). having one copy of c677t or another common variant a1298c is not associated with significant health risks. likewise, having two copies of a1298c is not associated with significant health risks. roughly, 11% of americans have two c677t mutations. these people (as well as those with both a c677t and a1298c mutation) have an increased risk for cardiovascular conditions such as coronary artery disease, blood clots, and stroke. specifically, studies suggest that people with two c677t gene mutations have a 16% higher chance of developing coronary heart disease compared to people without these mutations. for information about rare mthfr gene mutations, visit our page: homocystinuria due to mthfr deficiency. last updated: 8/23/2016
MalaCards based summary: Mthfr Gene Mutation, also known as methylenetetrahydrofolate reductase mutation, is related to budd-chiari syndrome and thrombophilia. An important gene associated with Mthfr Gene Mutation is MTHFR (Methylenetetrahydrofolate Reductase). Affiliated tissues include heart, endothelial and colon.
Drugs for Mthfr Gene Mutation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 16)
Interventional clinical trials:(show all 12)
Search NIH Clinical Center for Mthfr Gene Mutation
MalaCards organs/tissues related to Mthfr Gene Mutation:34
Heart, Endothelial, Colon
Articles related to Mthfr Gene Mutation:(show all 11)
Search GEO for disease gene expression data for Mthfr Gene Mutation.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet