MCID: MTH027
MIFTS: 24

Mthfr Deficiency malady

Summaries for Mthfr Deficiency

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MalaCards: Mthfr Deficiency, also known as homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity, is related to vascular disease and hyperhomocysteinemia. An important gene associated with Mthfr Deficiency is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Carbon metabolism and Selenium Pathway. The drugs betaine and betaine hydrochloride and the compounds 5,10-methenyltetrahydrofolate and b vitamins have been mentioned in the context of this disorder.

Aliases & Classifications for Mthfr Deficiency

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60UMLS, 20GeneTests
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Aliases & Descriptions:

mthfr deficiency 20
homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 60
homocystinuria 60


Related Diseases for Mthfr Deficiency

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17GeneCards, 18GeneDecks
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Diseases related to Mthfr Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 133)
idRelated DiseaseScoreTop Affiliating Genes
1vascular disease30.2CBS
2hyperhomocysteinemia30.1MTHFR, CBS
3thrombophilia29.9MTHFR, CBS
4homocystinuria29.9CBS, MTHFR
5marfan syndrome29.7CBS
6arteriosclerosis29.7MTHFR
7methylmalonic aciduria and homocystinuria type cblc10.5
8homocysteinemia due to mthfr deficiency10.5
9methylmalonic aciduria and homocystinuria type cblf10.4
10megaloblastic anemia10.3
11homocystinuria caused by cystathionine beta-synthase deficiency10.3
12methylmalonic acidemia with homocystinuria10.3
13methylmalonic acidemia10.3
14homocystinuria, b6-responsive and nonresponsive types10.3
15homocystinuria due to cbs deficiency10.3
16methylmalonic aciduria and homocystinuria, cblj type10.2
17pancreatitis10.2
18retinitis10.2
19vitamin b12 deficiency10.2
20homocystinuria, cbld type, variant 110.2
21homocystinuria-megaloblastic anemia, cbl e type10.2
22homocystinuria due to mthfr deficiency10.2
23sagittal sinus thrombosis10.1
24methylmalonic aciduria and homocystinuria type cbld10.1
25methylmalonicacidemia with homocystinuria cbl d10.1
26homocystinuria-megaloblastic anemia, cblg complementation type10.1
27homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cble complementation type10.1
28phenylketonuria10.1
29glaucoma10.1
30methylmalonic acidemia without homocystinuria10.1
31homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblg complementation type10.0
32central retinal artery occlusion10.0
33transsexualism10.0
34lens subluxation10.0
35congenital hypothyroidism10.0
36factor vii deficiency10.0
37maple syrup urine disease10.0
38cystinuria10.0
39methylmalonic aciduria and homocystinuria type cble10.0
40methylmalonic aciduria and homocystinuria type cblg10.0
41galactosemia10.0
42hemiplegia10.0
43hepatitis10.0
44hypothyroidism10.0
45retinal artery occlusion10.0
46retinal disease10.0
47schizophrenia10.0
48neurologic diseases10.0
49homocystinuria due to defect in methylation cbl e10.0
50homocystinuria due to defect in methylation cbl g10.0

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



Diseases related to mthfr deficiency

Clinical Features for Mthfr Deficiency

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Drugs & Therapeutics for Mthfr Deficiency

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mthfr Deficiency

Drug clinical trials:

Search ClinicalTrials for Mthfr Deficiency

Search NIH Clinical Center for Mthfr Deficiency

Search CenterWatch for Mthfr Deficiency

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Mthfr Deficiency

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20GeneTests
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Genetic tests related to Mthfr Deficiency:

id Genetic test Affiliating Genes
1 Mthfr Deficiency20 MTHFR

Anatomical Context for Mthfr Deficiency

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Animal Models for Mthfr Deficiency or affiliated genes

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Publications for Mthfr Deficiency

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Genetic Variations for Mthfr Deficiency

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Expression for genes affiliated with Mthfr Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mthfr Deficiency

Search GEO for disease gene expression data for Mthfr Deficiency.

Pathways for genes affiliated with Mthfr Deficiency

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29KEGG, 37NCBI BioSystems Database, 49PharmGKB
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Pathways related to Mthfr Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.1CBS, MTHFR
29.1CBS, MTHFR
3
Hide members
9.1CBS, MTHFR

Compounds for genes affiliated with Mthfr Deficiency

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB
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Compounds related to Mthfr Deficiency according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
15,10-methenyltetrahydrofolate449.5CBS, MTHFR
2b vitamins449.5MTHFR, CBS
3methylcobalamin44 2410.5MTHFR, CBS
4Pyridoxine11 2410.5CBS, MTHFR
55-methyltetrahydrofolate44 1110.5CBS, MTHFR
6betaine44 2410.4MTHFR, CBS
7cystathionine449.4CBS, MTHFR
8methylmalonic acid44 2410.4CBS, MTHFR
9cobalamin44 2410.4MTHFR, CBS
10vitamin b6449.4CBS, MTHFR
11pyridoxal 5-phosphate449.4CBS, MTHFR
12s-adenosylhomocysteine44 2410.4MTHFR, CBS
13vitamin b12449.4CBS, MTHFR
14purine44 2410.3CBS, MTHFR
15thymidylate449.3MTHFR, CBS
16homocysteine44 2410.3CBS, MTHFR
17p002449.2MTHFR, CBS
18s-adenosylmethionine44 11 2411.2CBS, MTHFR
19folate449.1CBS, MTHFR
20fibrinogen449.1CBS, MTHFR
21methotrexate44 49 1111.0MTHFR, CBS
22methionine448.8CBS, MTHFR

GO Terms for genes affiliated with Mthfr Deficiency

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16Gene Ontology
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Biological processes related to Mthfr Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:0506679.1CBS, MTHFR

Molecular functions related to Mthfr Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:0723419.1CBS, MTHFR

Products for genes affiliated with Mthfr Deficiency

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  • Antibodies
  • Proteins
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Sources for Mthfr Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet