Aliases & Classifications for Mthfr Deficiency

Aliases & Descriptions for Mthfr Deficiency:

Name: Mthfr Deficiency 24
Methylenetetrahydrofolate Reductase Deficiency 24 69
Homocystinuria 24 69
Homocystinuria Due to Deficiency of N -Methylenetetrahydrofolate Reductase Activity 69
5,10-Methylenetetrahydrofolate Reductase Deficiency 69

Classifications:



Summaries for Mthfr Deficiency

MalaCards based summary : Mthfr Deficiency, also known as methylenetetrahydrofolate reductase deficiency, is related to homocystinuria due to mthfr deficiency and mthfr gene mutation, and has symptoms including seizures, muscle weakness and abnormal coordination. An important gene associated with Mthfr Deficiency is CBS (Cystathionine-Beta-Synthase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. The drugs leucovorin and Folic Acid have been mentioned in the context of this disorder. Affiliated tissues include endothelial and liver, and related phenotype is Increased shRNA abundance.

Related Diseases for Mthfr Deficiency

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

(show all 40)
id Related Disease Score Top Affiliating Genes
1 homocystinuria due to mthfr deficiency 33.4 MTHFR MTR
2 mthfr gene mutation 10.9
3 deafness, autosomal recessive 45 10.0 MTHFR MTR
4 warburg micro syndrome 3 10.0 MTHFR MTR
5 coenzyme q10 deficiency disease 10.0 MTHFR MTR
6 hyperekplexia 2, autosomal recessive 10.0 MTHFR MTR
7 congenital intrinsic factor deficiency 10.0 MTHFR MTR
8 agammaglobulinemia 2 10.0 MTHFR MTR
9 craniofaciofrontodigital syndrome 10.0 MTHFR MTR
10 methylmalonic aciduria and homocystinuria, cblc type 9.9 CBS MTR
11 congenital symblepharon 9.9 MTHFR MTR
12 chronic ethmoiditis 9.9 MTHFR MTR
13 anal spasm 9.9 CBS MTHFR
14 nystagmus 2, congenital, autosomal dominant 9.9 CBS MTHFR
15 vaginal glandular tumor 9.9 MTHFR MTR
16 immunodeficiency, common variable, 6 9.8 CBS MTHFR
17 myh7-related myosin storage myopathy 9.7 CBS MTHFR MTR
18 myosclerosis, congenital 9.7 CBS MTHFR MTR
19 houlston ironton temple syndrome 9.7 CBS MTHFR MTR
20 autosomal dominant sideroblastic anemia 9.7 CBS MTHFR MTR
21 borderline glaucoma 9.7 CBS MTHFR MTR
22 cleft lip 9.7 CBS MTHFR MTR
23 neurofibroma of the heart 9.7 CBS MTHFR MTR
24 cervix small cell carcinoma 9.7 CBS MTHFR MTR
25 pericarditis 9.7 CBS MTHFR MTR
26 hmg-coa synthase-2 deficiency 9.7 CBS MTHFR MTR
27 posterior uveal melanoma 9.7 CBS MTHFR
28 cblf 9.6
29 mthfr thermolabile variant 9.6
30 cytomegalovirus infection 9.6
31 endotheliitis 9.6
32 malaria 9.6
33 lens subluxation 9.6
34 epilepsy 9.6
35 cerebritis 9.6
36 retinitis 9.6
37 neuropathy 9.6
38 homocystinuria 9.6
39 hyperhomocysteinemia 9.6
40 homocysteinemia 9.6

Graphical network of the top 20 diseases related to Mthfr Deficiency:



Diseases related to Mthfr Deficiency

Symptoms & Phenotypes for Mthfr Deficiency

UMLS symptoms related to Mthfr Deficiency:


seizures, muscle weakness, abnormal coordination, muscle spasticity

GenomeRNAi Phenotypes related to Mthfr Deficiency according to GeneCards Suite gene sharing:

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

Drugs & Therapeutics for Mthfr Deficiency

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

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved, Nutraceutical Phase 4,Phase 2,Phase 3 58-05-9 54575, 6560146 143
2
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 59-30-3 6037
3 Hematinics Phase 4,Phase 2,Phase 3
4 Trace Elements Phase 4,Phase 2,Phase 3
5 Vitamin B Complex Phase 4,Phase 2,Phase 3
6 Vitamins Phase 4,Phase 2,Phase 3
7 Antihypertensive Agents Phase 4,Phase 2,Phase 3
8 Micronutrients Phase 4,Phase 2,Phase 3
9 Folate Nutraceutical Phase 4,Phase 2,Phase 3
10 Vitamin B9 Nutraceutical Phase 4,Phase 2,Phase 3
11
Amlodipine Approved Phase 2, Phase 3 88150-42-9 2162
12 calcium channel blockers Phase 2, Phase 3
13 Vasodilator Agents Phase 2, Phase 3
14 Calcium, Dietary Phase 2, Phase 3
15
Nitric Oxide Approved 10102-43-9 145068
16
Hydroxocobalamin Approved 13422-51-0 11953898 5460373 44475014
17
Choline Approved, Nutraceutical 62-49-7 305
18
Riboflavin Approved, Nutraceutical, Vet_approved 83-88-5 493570
19
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
20
N,N-dimethylarginine Experimental 30315-93-6 123831
21 Gastrointestinal Agents
22 Nootropic Agents
23 Hypolipidemic Agents
24 Lipid Regulating Agents
25 Antimetabolites
26 Dermatologic Agents
27 Photosensitizing Agents
28 Vitamin B 12
29 Vitamin B2 Nutraceutical
30 Vitamin B12 Nutraceutical
31
Cobalamin Nutraceutical 13408-78-1 6438156
32
Methylcobalamin Experimental, Nutraceutical 13422-55-4

Interventional clinical trials:


id Name Status NCT ID Phase
1 CSPPT- Chronic Kidney Diseases Study Withdrawn NCT01871740 Phase 4
2 Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine Unknown status NCT01848873 Phase 2, Phase 3
3 Parental One-carbon Folate and Choline Nutrition Modulates Risk of Off-spring Cancer Development: Human Cohort Study Unknown status NCT02266641
4 Study of Homocysteine Metabolism in Homocystinuria Completed NCT00004356
5 The Effect of Folic Acid Administration in the Progression of Microalbuminuria Completed NCT00737126
6 Methylation Biosignature in Childhood Chronic Kidney Disease Recruiting NCT02022046
7 Pilot Evaluation of the Effect of Riboflavin Supplementation on Blood Pressure and Possible Effect Modification by the MTHFR C677T Genotype Not yet recruiting NCT03151096
8 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 Deficiency

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Mthfr Deficiency

Genetic tests related to Mthfr Deficiency:

id Genetic test Affiliating Genes
1 Mthfr Deficiency 24 MTHFR

Anatomical Context for Mthfr Deficiency

MalaCards organs/tissues related to Mthfr Deficiency:

39
Endothelial, Liver

Publications for Mthfr Deficiency

Articles related to Mthfr Deficiency:

(show all 24)
id Title Authors Year
1
High dietary folate in pregnant mice leads to pseudo-MTHFR deficiency and altered methyl metabolism, with embryonic growth delay and short-term memory impairment in offspring. ( 28069796 )
2017
2
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency. ( 27905001 )
2017
3
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. ( 27046515 )
2016
4
High folic acid consumption leads to pseudo-MTHFR deficiency, altered lipid metabolism, and liver injury in mice. ( 25733650 )
2015
5
MTHFR deficiency or reduced intake of folate or choline in pregnant mice results in impaired short-term memory and increased apoptosis in the hippocampus of wild-type offspring. ( 25956258 )
2015
6
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency. ( 26025547 )
2015
7
Retinal ganglion cell loss and mild vasculopathy in methylene tetrahydrofolate reductase (Mthfr) deficient mice: a model of mild hyperhomocysteinemia. ( 25766590 )
2015
8
Increased resistance to malaria in mice with methylenetetrahydrofolate reductase (Mthfr) deficiency suggests a mechanism for selection of the MTHFR 677C>T (c.665C>T) variant. ( 24616178 )
2014
9
Quantitative proteomics reveals differentially expressed proteins in murine preneoplastic intestine in a model of intestinal tumorigenesis induced by low dietary folate and MTHFR deficiency. ( 25081070 )
2014
10
Congenital MTHFR deficiency causing early-onset cerebral stroke in a case homozygous for MTHFR thermolabile variant. ( 23526309 )
2013
11
Stability of DNA methylation patterns in mouse spermatogonia under conditions of MTHFR deficiency and methionine supplementation. ( 24048573 )
2013
12
A founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews. ( 22947400 )
2012
13
Methylenetetrahydrofolate reductase (MTHFR) deficiency presenting as a rash. ( 22848014 )
2012
14
Sex-dependent behavioral effects of Mthfr deficiency and neonatal GABA potentiation in mice. ( 20813139 )
2011
15
Mthfr deficiency induces endothelial progenitor cell senescence via uncoupling of eNOS and downregulation of SIRT1. ( 21169404 )
2011
16
Methylenetetrahydrofolate reductase (MTHFR) deficiency and infantile epilepsy. ( 21778025 )
2011
17
Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. ( 20356773 )
2010
18
Insidious peripheral neuropathy occurring under treatment in infantile MTHFR deficiency. ( 19697151 )
2009
19
Methylenetetrahydrofolate reductase (MTHFR) deficiency enhances resistance against cytomegalovirus infection. ( 19609317 )
2009
20
Valproic acid increases expression of methylenetetrahydrofolate reductase (MTHFR) and induces lower teratogenicity in MTHFR deficiency. ( 18615588 )
2008
21
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency: a case report of nonclassical homocystinuria. ( 18658082 )
2008
22
[Cystathionine betasynthase and MTHFR deficiencies in adults]. ( 18033026 )
2007
23
Psychotic symptoms in severe MTHFR deficiency and their successful treatment with betaine. ( 12655429 )
2003
24
5,10-Methylenetetrahydrofolate reductase (MTHFR) assay in the forward direction: residual activity in MTHFR deficiency. ( 12028998 )
2002

Variations for Mthfr Deficiency

ClinVar genetic disease variations for Mthfr Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CBS NM_000071.2(CBS): c.919G> A (p.Gly307Ser) single nucleotide variant Pathogenic rs121964962 GRCh37 Chromosome 21, 44483098: 44483098
2 CBS NM_000071.2(CBS): c.833T> C (p.Ile278Thr) single nucleotide variant Pathogenic rs5742905 GRCh37 Chromosome 21, 44483184: 44483184

Expression for Mthfr Deficiency

Search GEO for disease gene expression data for Mthfr Deficiency.

Pathways for Mthfr Deficiency

Pathways related to Mthfr Deficiency according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.98 MTHFR MTR
2
Show member pathways
11.77 CBS MTHFR MTR
3
Show member pathways
11.65 CBS MTHFR MTR
4
Show member pathways
11.41 CBS MTR
5
Show member pathways
10.95 CBS MTHFR MTR
6
Show member pathways
9.91 CBS MTHFR

GO Terms for Mthfr Deficiency

Biological processes related to Mthfr Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 8.96 CBS MTR
2 homocysteine metabolic process GO:0050667 8.62 CBS MTHFR

Molecular functions related to Mthfr Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Mthfr Deficiency

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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