MCID: MTH044
MIFTS: 21

Mthfr Gene Mutation malady

Categories: Rare diseases

Aliases & Classifications for Mthfr Gene Mutation

Aliases & Descriptions for Mthfr Gene Mutation:

Name: Mthfr Gene Mutation 50
Methylenetetrahydrofolate Reductase Mutation 50

Classifications:



Summaries for Mthfr Gene Mutation

NIH Rare Diseases : 50 mthfr gene mutation is a genetic change that affects an enzyme involved in breaking down the amino acid homocysteine. c677t and a1298c are two very common mthfr gene changes. in america, about 25% of people who are hispanic, and 10-15% of people who are caucasian have two copies of c677t. these gene changes have been studied as possible risk factors for many common conditions. studies have found that women with two c677t gene changes have an increased risk for having a child with a neural tube defect. this risk is further elevated if the developing baby also has two c677t gene changes. women with two c677t and high homocysteine levels may also have a mildly higher risk for pregnancy loss. studies have also found that men and women with two c677t gene mutations and high homocysteine levels may be at a mildly increased risk for blood clots (venous thromboembolism). for information about rare mthfr gene mutations, visit our page: homocystinuria due to mthfr deficiency. last updated: 5/4/2017

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. 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 64)
id Related Disease Score Top Affiliating Genes
1 budd-chiari syndrome 29.4 F5 MTHFR
2 homocystinuria due to mthfr deficiency 11.0
3 multiple familial trichoepithelioma 10.0 F5 MTHFR
4 absence of innominate vein 10.0 F5 MTHFR
5 aminoaciduria 10.0 F5 MTHFR
6 vascular erectile tumor 10.0 F5 MTHFR
7 lubinsky syndrome 10.0 F5 MTHFR
8 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.0 F5 MTHFR
9 lung cancer 10.0 F5 MTHFR
10 hypertrichosis 10.0 F5 MTHFR
11 left-right axis malformations 10.0 F5 MTHFR
12 myosclerosis, congenital 10.0 F5 MTHFR
13 photosensitive epilepsy 10.0 F5 MTHFR
14 bullous skin disease 10.0 F5 MTHFR
15 central congenital hypothyroidism 10.0 F5 MTHFR
16 lynch syndrome 10.0 F5 MTHFR
17 cryptosporidiosis 10.0 F5 MTHFR
18 angular blepharoconjunctivitis 10.0 F5 MTHFR
19 houlston ironton temple syndrome 10.0 F5 MTHFR
20 blepharoconjunctivitis 10.0 F5 MTHFR
21 dysgammaglobulinemia 10.0 F5 MTHFR
22 gastrointestinal defects and immunodeficiency syndrome 10.0 F5 MTHFR
23 villous adenoma 10.0 F5 MTHFR
24 ophthalmia neonatorum 10.0 F5 MTHFR
25 vaginal discharge 10.0 F5 MTHFR
26 alcoholic gastritis 10.0 F5 MTHFR
27 scar contracture 10.0 F5 MTHFR
28 uterine corpus cancer 10.0 F5 MTHFR
29 pregnancy loss, recurrent 1 10.0 F5 MTHFR
30 thrombophilia due to activated protein c resistance 10.0 F5 MTHFR
31 spinal multifocal clear cell meningioma 10.0 F5 MTHFR
32 cleft lip 10.0 F5 MTHFR
33 immunodeficiency, common variable, 6 10.0 F5 MTHFR
34 sertoli-leydig cell tumor 9.9 F5 MTHFR
35 leukocyte disease 9.9 F5 MTHFR
36 childhood type dermatomyositis 9.9 F5 MTHFR
37 neurofibroma of the heart 9.9 F5 MTHFR
38 welander distal myopathy 9.9 F5 MTHFR
39 bone development disease 9.9 F5 MTHFR
40 neural tube defects 9.9
41 hyperhomocysteinemia 9.9
42 coronary artery disease 9.9
43 artery disease 9.9
44 dentine erosion 9.9 F5 MTHFR
45 obstructive jaundice 9.9 F5 MTHFR
46 giant papillary conjunctivitis 9.9 F5 MTHFR
47 acute proliferative glomerulonephritis 9.9 F5 MTHFR
48 cervix small cell carcinoma 9.8 F5 MTHFR
49 myocardial infarction 9.8 F5 MTHFR
50 retinitis 9.8

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 40)
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
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
4
leucovorin Approved, Nutraceutical Phase 4 58-05-9 54575, 6560146 143
5
Cyanocobalamin Approved, Nutraceutical Phase 4 68-19-9 44176380
6 Vitamin B Complex Phase 4
7 Vitamins Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 Analgesics Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Anesthetics Phase 4
13 Anesthetics, General Phase 4
14 Anesthetics, Inhalation Phase 4
15 Central Nervous System Depressants Phase 4
16 Peripheral Nervous System Agents Phase 4
17 Vitamin B 12 Phase 4
18 Tetrahydrofolates Phase 4
19 Folate Nutraceutical Phase 4
20 Vitamin B9 Nutraceutical Phase 4
21
Cobalamin Nutraceutical Phase 4 13408-78-1 6438156
22
Methylcobalamin Experimental, Nutraceutical Phase 4 13422-55-4
23 Vitamin B12 Nutraceutical Phase 4
24
Fluorouracil Approved 51-21-8 3385
25
Irinotecan Approved, Investigational 97682-44-5, 100286-90-6 60838
26
Capecitabine Approved, Investigational 154361-50-9 60953
27
Choline Approved, Nutraceutical 62-49-7 305
28
Pyridoxal Approved, Nutraceutical 66-72-8 1050
29
Pyridoxine Approved, Nutraceutical, Vet_approved 65-23-6 1054
30 Antimetabolites
31 Gastrointestinal Agents
32 Hematinics
33 Hypolipidemic Agents
34 Lipid Regulating Agents
35 Nootropic Agents
36 Vitamin B 6
37 Antidepressive Agents
38 Antimetabolites, Antineoplastic
39 Cola Nutraceutical
40 methionine Nutraceutical

Interventional clinical trials:

(show all 14)
id Name Status NCT ID Phase
1 Homocysteine After Nitrous Oxide Anesthesia Completed NCT00482456 Phase 4
2 The Use Of L-Methylfolate As A Treatment For Depression Recruiting NCT02133898 Phase 4
3 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Unknown status NCT02266641
4 Prevalence of MTHFR Polymorphisms in Venous Disease Completed NCT01993914
5 Genetic Causes of Male Infertility Completed NCT00341120
6 Polymorphism C677T MTHFR and Effects of Folate Intake Completed NCT02953522
7 Vitamins in Nitrous Oxide Study Completed NCT00655980
8 Genetic Trial to Study Diarrhea in Patients With Stage III Colon Cancer Who Are Receiving Chemotherapy Completed NCT00048971
9 The Effect of Folic Acid Administration in the Progression of Microalbuminuria Completed NCT00737126
10 A Placebo-Controlled Study of Physiologic Effects of L-methylfolate in Schizophrenia Patients Completed NCT01091506
11 Genetic Epidemiology Risk Assessment Program or Usual Care in Colorectal Cancer Screening for Healthy Participants Completed NCT00478309
12 Deplin® P.L.U.S. Program (Progress Through Learning Understanding & Support) Completed NCT01369030
13 Discovery and Validate of Multi-genetic Biomarkers for Capecitabine in Chinese Colorectal Patients Enrolling by invitation NCT03030508
14 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

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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