MCID: MTH044
MIFTS: 23

Mthfr Gene Mutation

Categories: Rare diseases

Aliases & Classifications for Mthfr Gene Mutation

MalaCards integrated aliases for Mthfr Gene Mutation:

Name: Mthfr Gene Mutation 50
Methylenetetrahydrofolate Reductase Mutation 50

Classifications:



Summaries for Mthfr Gene Mutation

NIH Rare Diseases : 50 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). many studies on mthfr and other health risks have been completed, but with conflicting results. for information about rare disease causing mthfr gene variants, visit our page: homocystinuria due to mthfr deficiency. last updated: 9/22/2017

MalaCards based summary : Mthfr Gene Mutation, also known as methylenetetrahydrofolate reductase mutation, is related to budd-chiari syndrome and homocystinuria due to mthfr deficiency. An important gene associated with Mthfr Gene Mutation is MTHFR (Methylenetetrahydrofolate Reductase). The drugs Hydroxocobalamin and Nitrous oxide have been mentioned in the context of this disorder. Affiliated tissues include endothelial and colon, and related phenotype is Increased shRNA abundance.

Related Diseases for Mthfr Gene Mutation

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

(show top 50) (show all 66)
id Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 29.5 F5 MTHFR
2 homocystinuria due to mthfr deficiency 11.0
3 multicentric osteolysis nephropathy 10.0 F5 MTHFR
4 coronary sinus stenosis 10.0 F5 MTHFR
5 amelogenesis imperfecta hypomaturation type 10.0 F5 MTHFR
6 syncope 10.0 F5 MTHFR
7 lockwood feingold syndrome 9.9 F5 MTHFR
8 superior limbic keratoconjunctivitis 9.9 F5 MTHFR
9 follicular adenoma 9.9 F5 MTHFR
10 pregnancy loss, recurrent 1 9.9 F5 MTHFR
11 hiv-1 9.9 F5 MTHFR
12 cavernous lymphangioma 9.9 F5 MTHFR
13 primary pigmented nodular adrenocortical disease 9.9 F5 MTHFR
14 rheumatoid lung disease 9.9 F5 MTHFR
15 femoral neuropathy 9.9 F5 MTHFR
16 cryptosporidiosis 9.9 F5 MTHFR
17 intestinal pseudo-obstruction 9.9 F5 MTHFR
18 homologous wasting disease 9.9 F5 MTHFR
19 angular blepharoconjunctivitis 9.9 F5 MTHFR
20 neural tube defects 9.9
21 coronary artery disease 9.9
22 artery disease 9.9
23 hyperhomocysteinemia 9.9
24 dysgammaglobulinemia 9.9 F5 MTHFR
25 hepatocellular adenoma 9.9 F5 MTHFR
26 ulcerative stomatitis 9.9 F5 MTHFR
27 blepharoconjunctivitis 9.9 F5 MTHFR
28 schizencephaly 9.9 F5 MTHFR
29 aryepiglottic fold cancer 9.9 F5 MTHFR
30 thrombomodulin anomalies, familial 9.9 F5 MTHFR
31 joint disorders 9.9 F5 MTHFR
32 leukorrhea 9.9 F5 MTHFR
33 cervix squamous papilloma 9.9 F5 MTHFR
34 sacrococcygeal teratoma 9.9 F5 MTHFR
35 ocular hyperemia 9.8 F5 MTHFR
36 thrombophilia due to activated protein c resistance 9.8 F5 MTHFR
37 necrotic uveal melanoma 9.8 F5 MTHFR
38 retinitis 9.8
39 aneurysm 9.8
40 preeclampsia/eclampsia 1 9.8 F5 MTHFR
41 pregnancy loss, recurrent 2 9.8 F5 MTHFR
42 mixed germ cell-sex cord neoplasm 9.8 F5 MTHFR
43 meckel's diverticulum 9.8 F5 MTHFR
44 dentine erosion 9.8 F5 MTHFR
45 charcot-marie-tooth disease 9.7 F5 MTHFR
46 primary cerebellar degeneration 9.7 F5 MTHFR
47 thrombosis 9.7
48 obstructive jaundice 9.7 F5 MTHFR
49 priapism 9.7 F5 MTHFR
50 ovarian hyperstimulation syndrome 9.7

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



Diseases related to Mthfr Gene Mutation

Symptoms & Phenotypes for Mthfr Gene Mutation

GenomeRNAi Phenotypes related to Mthfr Gene Mutation according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.62 F5 MTHFR

Drugs & Therapeutics for Mthfr Gene Mutation

Drugs for Mthfr Gene Mutation (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 34)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 5460373 44475014
2
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
3
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
4
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
5
leucovorin Approved, Nutraceutical Phase 4 58-05-9 143 6006
6 Analgesics Phase 4
7 Analgesics, Non-Narcotic Phase 4
8 Anesthetics Phase 4
9 Anesthetics, General Phase 4
10 Anesthetics, Inhalation Phase 4
11 Central Nervous System Depressants Phase 4
12 Peripheral Nervous System Agents Phase 4
13 Vitamin B 12 Phase 4
14 Vitamin B Complex Phase 4
15 Vitamins Phase 4
16
Cobalamin Nutraceutical Phase 4 13408-78-1 6438156
17 Folate Nutraceutical Phase 4
18
Methylcobalamin Experimental, Nutraceutical Phase 4 13422-55-4
19 Vitamin B12 Nutraceutical Phase 4
20 Vitamin B9 Nutraceutical Phase 4
21
Fluorouracil Approved 51-21-8 3385
22
Irinotecan Approved, Investigational 97682-44-5, 100286-90-6 60838
23
Capecitabine Approved, Investigational 154361-50-9 60953
24
Pyridoxal Approved, Nutraceutical 66-72-8 1050
25
Pyridoxine Approved, Nutraceutical, Vet_approved 65-23-6 1054
26 Hematinics
27 Micronutrients
28 Trace Elements
29 Tetrahydrofolates
30 Vitamin B 6
31 Antimetabolites
32 Antimetabolites, Antineoplastic
33 Cola Nutraceutical
34 methionine Nutraceutical

Interventional clinical trials:

(show all 12)

id Name Status NCT ID Phase Drugs
1 Homocysteine After Nitrous Oxide Anesthesia Completed NCT00482456 Phase 4 Nitrous oxide
2 Prevalence of MTHFR Polymorphisms in Venous Disease Completed NCT01993914
3 Genetic Causes of Male Infertility Completed NCT00341120
4 Polymorphism C677T MTHFR and Effects of Folate Intake Completed NCT02953522
5 Polymorphism C677T MTHFR and Folate Intake in Inflammatory Biomarkers Completed NCT03186196
6 Vitamins in Nitrous Oxide Study Completed NCT00655980 Vitamin B12 and folic acid;Nitrous oxide and placebo
7 Genetic Trial to Study Diarrhea in Patients With Stage III Colon Cancer Who Are Receiving Chemotherapy Completed NCT00048971
8 The Effect of Folic Acid Administration in the Progression of Microalbuminuria Completed NCT00737126 Folic acid;Placebo
9 A Placebo-Controlled Study of Physiologic Effects of L-methylfolate in Schizophrenia Patients Completed NCT01091506
10 The Use Of L-Methylfolate As A Treatment For Depression Recruiting NCT02133898
11 Discovery and Validate of Multi-genetic Biomarkers for Capecitabine in Chinese Colorectal Patients Enrolling by invitation NCT03030508
12 Examining B12 Deficiency Associated With C677T Mutation on MTHFR Gene in Terms of Commonness and Endothelial Function Terminated NCT00730574

Search NIH Clinical Center for Mthfr Gene Mutation

Genetic Tests for Mthfr Gene Mutation

Anatomical Context for Mthfr Gene Mutation

MalaCards organs/tissues related to Mthfr Gene Mutation:

39
Endothelial, Colon

Publications for Mthfr Gene Mutation

Articles related to Mthfr Gene Mutation:

(show all 12)
id Title Authors Year
1
Characterization of a Rare Nonpathogenic Methylenetetrahydrofolatereductase (MTHFR) Gene Mutation p.Lys215del in a Southern Italian family. ( 27768236 )
2017
2
MTHFR Gene Mutations: A Potential Marker of Late-Onset Alzheimer's Disease? ( 26401555 )
2015
3
[Neonatal renal vein thrombosis in a heterozygous carrier of both factor V Leiden and the MTHFR gene mutation]. ( 22361411 )
2012
4
Recurrent ischemic strokes in a young celiac woman with MTHFR gene mutation. ( 22807619 )
2012
5
Plasma homocysteine, MTHFR gene mutation, and open-angle glaucoma. ( 19142139 )
2009
6
Severe arterial thrombophilia associated with a homozygous MTHFR gene mutation (A1298C) in a young man with Klinefelter syndrome. ( 18160591 )
2008
7
Bilateral transverse sinus thrombosis secondary to a homozygous C677T MTHFR gene mutation. ( 18666857 )
2008
8
Intermediate hyperhomocysteinaemia and compound heterozygosity for the common variant c.677C>T and a MTHFR gene mutation. ( 17457696 )
2007
9
Association of corticosteroids and factor V, prothrombin, and MTHFR gene mutations with avascular osteonecrosis in renal allograft recipients. ( 16549163 )
2006
10
Factor V Leiden, prothrombin G20210A and MTHFR gene mutations in inflammatory bowel disease. ( 16249980 )
2004
11
[Detecting MTHFR gene mutation with a new approach: molecular beacons]. ( 14556201 )
2003
12
The C677T MTHFR gene mutation is not predictive of risk for recurrent fetal loss. ( 10233370 )
1999

Variations for Mthfr Gene Mutation

Expression for Mthfr Gene Mutation

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

Pathways for Mthfr Gene Mutation

GO Terms for Mthfr Gene Mutation

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

id Name GO ID Score Top Affiliating Genes
1 blood circulation GO:0008015 8.62 F5 MTHFR

Sources for Mthfr Gene Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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