MCID: HYP037
MIFTS: 55

Hyperhomocysteinemia malady

Summaries for Hyperhomocysteinemia

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

MalaCards: Hyperhomocysteinemia is related to atherosclerosis and venous thrombosis. An important gene associated with Hyperhomocysteinemia is FOLH1 (folate hydrolase (prostate-specific membrane antigen) 1), and among its related pathways are Metabolism and One Carbon Metabolism. The compounds homocysteine and folate have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, and related mouse phenotypes are homeostasis/metabolism and mortality/aging.

Disease Ontology:8 An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.

Aliases & Classifications for Hyperhomocysteinemia

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 40NCIt, 35MeSH
See all sources

Aliases & Descriptions:

hyperhomocysteinemia 8 10 45 61


External Ids:

Disease Ontology8 DOID:9279
NCIt40 C84770
SNOMED-CT57 419503008
MeSH35 D020138

Related Diseases for Hyperhomocysteinemia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Hyperhomocysteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 218)
idRelated DiseaseScoreTop Affiliating Genes
1atherosclerosis30.7SOD3, CST3, APOH, MTHFR, MTR, CBS
2venous thrombosis30.7SERPINC1, THBD, HRG, AHCY, CBS, MTR
3vascular disease30.6CST3, SOD3, APOH, CTH, F5, MTRR
4coronary artery disease,30.5BCHE, THBD, GPX1, CBS, MTR, MTHFR
5thromboembolism30.5F9, APOH, F5, MTHFR, SERPINC1, THBD
6central retinal vein occlusion30.5F5, MTHFR, APOH
7stroke, ischemic30.4MTHFR, F5
8uremia30.3RHD
9portal vein thrombosis30.3F5, MTHFR, SERPINC1
10homocystinuria30.3SERPINC1, CBS, BHMT, MTR, MTHFR, MTRR
11acute myocardial infarction30.3SOD3, CST3, CBS, HRG, THBD, SERPINC1
12antiphospholipid syndrome30.3APOH, F5, MTHFR, THBD, SERPINC1
13insulin resistance30.3SOD3, F9
14pregnancy loss30.3APOH, F5, MTHFR, SERPINC1
15thrombophilia30.2F9, SERPINC1, THBD, HRG, CBS, MTHFR
16coronary heart disease30.2CST3, MTHFR, MTR, CBS, THBD, SERPINC1
17protein c deficiency30.2SERPINC1, THBD, HRG, MTHFR, F5, APOH
18alzheimer's disease30.1BCHE, CBS, MTR, FOLH1, CST3
19vascular dementia30.1CST3, MTHFR, BCHE
20arteriosclerosis30.1MTHFR
21homocysteinemia30.0CBS, MTR, MTHFR, F5
22branch retinal artery occlusion30.0F5
23arthritis30.0SOD3
24hepatitis c30.0F9
25cadasil29.7FOLH1, APOH, CST3, F9, F5, MTHFR
26neural tube defects29.7BCHE, CBS, MTR, MTHFR, MTRR
27deficiency anemia29.7F9, MTR, RHD, BCHE
28placental abruption29.7SERPINC1, MTHFR, F5
29patent foramen ovale29.7F5
30hypercholesterolemia29.7THBD, CBS, F9
31protein s deficiency29.7F9, F5, RHD, SERPINC1
32peripheral vascular disease29.7MTHFR, CBS, THBD
33hypermethioninemia29.7CTH, CBS, AHCY
34megaloblastic anemia29.7MTR
35marfan syndrome29.7F9, CBS
36adenoma29.7MTR, MTHFR
37behcet's disease29.7THBD, F5, APOH
38amyloidosis29.7CST3, F9
39factor v deficiency29.7F5
40venous thromboembolism10.3
41pernicious anemia10.2
42central retinal artery occlusion10.1
43ulcerative colitis10.1
44n syndrome10.1
45osteoporosis10.1
46aortic aneurysm10.1
47mthfr gene mutation10.1
48protein r deficiency10.1
49cardiovascular disease risk factor10.1
50diabetic nephropathy10.0

Graphical network of the top 20 diseases related to Hyperhomocysteinemia:



Diseases related to hyperhomocysteinemia

Clinical Features for Hyperhomocysteinemia

Drugs & Therapeutics for Hyperhomocysteinemia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hyperhomocysteinemia

Drug clinical trials:

Search ClinicalTrials for Hyperhomocysteinemia

Search NIH Clinical Center for Hyperhomocysteinemia

Search CenterWatch for Hyperhomocysteinemia

Genetic Tests for Hyperhomocysteinemia

Anatomical Context for Hyperhomocysteinemia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hyperhomocysteinemia:

33
Skin, Ovary, Liver, Brain, Kidney, Lung, Bone marrow, Cortex, Retina, Heart, Skeletal muscle, Small intestine, Colon, Breast, Myeloid, Monocytes, T cells, B cells, Endothelial, Fetal brain, Cardiac myocytes, Fetal liver, Fetal lung

Animal Models for Hyperhomocysteinemia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hyperhomocysteinemia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.7BCHE, F9, SOD3, CST3, APOH, FOLH1
2MP:001076810.5F9, SOD3, ICMT, APOH, CTH, F5
3MP:000539710.5ICMT, RHD, CBS, GPX1, HRG, THBD
4MP:000537010.4F9, ICMT, CTH, F5, BHMT, CBS
5MP:000538510.2F9, CST3, FOLH1, CTH, CBS

Publications for Hyperhomocysteinemia

Sources:
51PubMed
See all sources

Articles related to Hyperhomocysteinemia:

(show top 50)    (show all 753)
idTitleAuthorsYear
1
Exercise prevents hyperhomocysteinemia in a dietary folate-restricted mouse model. (23746565)
2013
2
Hyperhomocysteinemia, as an independent risk factor for retinal venous occlusion in an Indian population. (24381423)
2013
3
Plaque image characteristics, hyperhomocysteinemia, and gene polymorphism of homocysteine metabolism-related enzyme (MTHFR C677T) in acute coronary syndrome. (23314883)
2013
4
Effect of alcohol consumption on risk of hyperhomocysteinemia based on alcohol-related facial flushing response. (23904954)
2013
5
Chronic hyperhomocysteinemia increases inflammatory markers in hippocampus and serum of rats. (22484967)
2012
6
Epigenetic regulation of glucocorticoid receptor expression in aorta from mice with hyperhomocysteinemia. (22491064)
2012
7
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. (22819238)
2012
8
Hyperhomocysteinemia, methylenetetrahydrofolate reductase c.677C>T polymorphism and risk of cancer: cross-sectional and prospective studies and meta-analyses of 75,000 cases and 93,000 controls. (20473868)
2011
9
Pharmacological investigations on potential of peroxisome proliferator-activated receptor-gamma agonists in hyperhomocysteinemia-induced vascular dementia in rats. (21777659)
2011
10
Is hyperhomocysteinemia relevant in patients with celiac disease? (21734805)
2011
11
Folic acid alleviates oxidative stress and hyperhomocysteinemia involved in testicular dysfunction of hypothyroid rats. (21875590)
2011
12
Dietary intake of S-(alpha-carboxybutyl)-DL-homocysteine induces hyperhomocysteinemia in rats. (20797482)
2010
13
Danshensu protects vascular endothelia in a rat model of hyperhomocysteinemia. (20871618)
2010
14
Is retinal assessment useful in epileptic patients with hyperhomocysteinemia? (18978724)
2009
15
Hyperhomocysteinemia promotes inflammatory monocyte generation and accelerates atherosclerosis in transgenic cystathionine beta-synthase-deficient mice. (19858416)
2009
16
Poly (ADP-Ribose) polymerase inhibition attenuates atherosclerotic plaque development in ApoE-/- mice with hyperhomocysteinemia. (19776495)
2009
17
Pharmacological dose of vitamin B12 is as effective as low-dose folinic acid in correcting hyperhomocysteinemia of hemodialysis patients. (19462276)
2009
18
Chronic diet-induced hyperhomocysteinemia impairs eNOS regulation in mouse mesenteric arteries. (18448615)
2008
19
Hemolysis and hyperhomocysteinemia caused by cobalamin deficiency: three case reports and review of the literature. (19094231)
2008
20
Hyperhomocysteinemia: no longer a consideration in the management of venous thromboembolism. (18664964)
2008
21
Effect of mast cell stabilizers in hyperhomocysteinemia-induced cardiac hypertrophy in rats. (18520950)
2008
22
Prothrombotic effects of hyperhomocysteinemia and hypercholesterolemia in ApoE-deficient mice. (17082485)
2007
23
Concurrent folate treatment prevents Na+,K+-ATPase activity inhibition and memory impairments caused by chronic hyperhomocysteinemia during rat development. (18023318)
2007
24
Hyperhomocysteinemia and elevated ox-LDL in Tunisian type 2 diabetic patients: role of genetic and dietary factors. (17618615)
2007
25
Metabolic syndrome and hyperhomocysteinemia in patients with deep vein thrombosis: a case-control study. (17768135)
2007
26
Hyperhomocysteinemia in women with unexplained sterility or recurrent early pregnancy loss from Southern Italy: a preliminary report. (17625006)
2007
27
Hyperhomocysteinemia is a risk factor of recurrent coronary event in young patients irrespective to the MTHFR C677T polymorphism. (17005242)
2007
28
The possible role of hyperhomocysteinemia on IVF outcome. (17763935)
2007
29
Adaptive-outward and maladaptive-inward arterial remodeling measured by intravascular ultrasound in hyperhomocysteinemia and diabetes. (16703221)
2006
30
Hyperhomocysteinemia and low B vitamin levels are independently associated with venous thromboembolism: results from the EDITH study: a hospital-based case-control study. (16634748)
2006
31
Arrhythmia and neuronal/endothelial myocyte uncoupling in hyperhomocysteinemia. (17178594)
2006
32
The methylenetetrahydrofolate reductase C677T gene mutation is associated with hyperhomocysteinemia, cardiovascular disease and plasma B-type natriuretic peptide levels in Korea. (16958597)
2006
33
Hyperhomocysteinemia in movement disorders: Current evidence and hypotheses. (16842141)
2006
34
Hyperhomocysteinemia: a novel risk factor for erectile dysfunction. (17142125)
2006
35
Splenic thrombosis in three patients with moderate hyperhomocysteinemia, low folate and the C677T variant of the methylenetetrahydrofolate reductase (MTHFR) gene. (16411416)
2005
36
Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations in patients with inflammatory bowel disease. (16262529)
2005
37
Myocardial infarction as an initial symptom of antiphospholipid syndrome, factor V Leiden mutation, and hyperhomocysteinemia]. (15088423)
2004
38
Diffuse plane normolipemic xanthomatosis associated with Takayasu's disease and hyperhomocysteinemia: a case report. (17642621)
2004
39
Hyperhomocysteinemia activates nuclear factor-kappaB in endothelial cells via oxidative stress. (14630727)
2004
40
Role of hyperhomocysteinemia in aortic disease. (15704258)
2004
41
Management of hyperhomocysteinemia. (18370637)
2003
42
Potential role for adenosine in the pathogenesis of the vascular complications of hyperhomocysteinemia. (12909310)
2003
43
Frequency of hyperhomocysteinemia in hemodialysis patients with folic acid supplementation]. (12180000)
2002
44
Polymorphism of the methylenetetrahydrofolate reductase gene (MTHFR) and incidence of hyperhomocysteinemia-related diseases]. (11468972)
2001
45
Hyperhomocysteinemia is related to residual glomerular filtration and folate, but not to methylenetetrahydrofolate-reductase and methionine synthase polymorphisms, in supplemented end-stage renal disease patients undergoing hemodialysis. (11592445)
2001
46
Hyperhomocysteinemia is a risk factor for coronary arteriosclerosis in Japanese patients with type 2 diabetes. (10097933)
1999
47
Treatment of hyperhomocysteinemia with folic acid and vitamins B12 and B6 attenuates thrombin generation. (10527405)
1999
48
Mutation (677 C to T) in the methylenetetrahydrofolate reductase gene aggravates hyperhomocysteinemia in hemodialysis patients. (9264011)
1997
49
Hyperhomocysteinemia-induced vascular damage in the minipig. Captopril-hydrochlorothiazide combination prevents elastic alterations. (7850955)
1995
50
Circulating lipid hydroperoxide levels in human hyperhomocysteinemia. Relevance to development of arteriosclerosis. (8466886)
1993

Genetic Variations for Hyperhomocysteinemia

Expression for genes affiliated with Hyperhomocysteinemia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hyperhomocysteinemia

Search GEO for disease gene expression data for Hyperhomocysteinemia.

Pathways for genes affiliated with Hyperhomocysteinemia

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 50PharmGKB, 52QIAGEN, 53R&D Systems
See all sources

Pathways related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.5CTH, MTRR, MTHFR, MTR, BHMT, CBS
2
Hide members
10.5AHCY, BHMT, MTR, MTHFR, MTRR, FOLH1
310.5CTH, MTRR, MTR, BHMT, CBS, AHCY
4
Hide members
10.5CTH, MTRR, MTR, BHMT, CBS, AHCY
510.5SOD3, CTH, MTHFR, MTR, CBS, GPX1
6
Hide members
10.5MTRR, MTHFR, MTR, CBS, AHCY
710.5SOD3, MTRR, MTHFR, AHCY, GPX1
8
Hide members
10.5CTH, MTHFR, MTR, CBS
9
Hide members
10.5MTRR, MTR, CBS, AHCY
1010.5CTH, MTR, CBS, AHCY
11
Hide members
10.5MTR, BHMT, CBS
12
Hide members
10.5MTR, MTHFR, MTRR
1310.5CTH, BHMT, CBS
14
Hide members
10.5MTR, MTHFR
1510.5BHMT, MTR
16
Hide members
10.5CBS, CTH
17
Hide members
10.5SERPINC1, THBD, F5
18
Hide members
10.5F9, F5, THBD, SERPINC1
19
Hide members
10.5F9, F5, THBD, SERPINC1
20
Hide members
10.5SERPINC1, THBD, F5, F9

Compounds for genes affiliated with Hyperhomocysteinemia

Sources:
45Novoseek, 24HMDB, 11DrugBank, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 148)
idCompoundScoreTop Affiliating Genes
1homocysteine45 2412.0AHCY, GPX1, THBD, SERPINC1, CBS, F9
2folate4511.0SOD3, MTR, SERPINC1, CST3, APOH, FOLH1
3cysteine4511.0GPX1, AHCY, CBS, MTR, MTHFR, F5
4methionine4511.0F9, SOD3, CST3, CTH, MTRR, MTHFR
5vitamin b124511.0F5, MTRR, MTHFR, MTR, CST3, APOH
6vitamin b64511.0CST3, CTH, F5, MTHFR, MTR, BHMT
7cystathionine4511.0CST3, CTH, F5, MTRR, MTHFR, MTR
8copper45 2412.0FOLH1, MTR, F5, APOH, SOD3, AHCY
9serine4511.0CBS, BHMT, RHD, CTH, FOLH1, SOD3
10alanine4511.0SERPINC1, THBD, GPX1, MTHFR, MTRR, F5
115-methyltetrahydrofolate45 1111.9MTHFR, CBS, MTR, MTRR, F5
12aspartate4510.9ICMT, CST3, BCHE, MTR, MTRR, RHD
13betaine45 2411.9MTRR, MTHFR, MTR, BHMT, CBS
14fibrinogen4510.9THBD, F9, SERPINC1, HRG, CBS, F5
15s-adenosylmethionine45 11 2412.9BHMT, AHCY, MTR, MTHFR, CBS, ICMT
16arginine4510.9CBS, F9, F5, APOH, SOD3, CST3
17methylmalonic acid45 2411.9MTR, MTHFR, CBS, MTRR, CST3
18kininogen4510.9SERPINC1, APOH, F9, CST3, F5, HRG
19s-adenosylhomocysteine45 2411.9ICMT, CBS, MTRR, AHCY, MTR, MTHFR
20glutamate4510.9APOH, BCHE, THBD, CTH, FOLH1
21methotrexate45 50 1112.9MTHFR, MTRR, MTR, CST3, APOH, FOLH1
22creatinine4510.9F5, CST3, MTHFR, THBD, SERPINC1, F9
23methylcobalamin45 2411.9MTRR, MTHFR, CBS, MTR
24b vitamins4510.9MTRR, MTHFR, MTR, CBS
25heparin45 29 11 2413.9APOH, HRG, SOD3, MTHFR, F9, BCHE
26cholesterol45 29 11 2413.9SOD3, CST3, APOH, THBD, CBS, MTHFR
27warfarin45 50 11 2413.9APOH, F9, SERPINC1
28pyridoxal 5-phosphate4510.9CST3, CTH, MTHFR, MTR, CBS
29nitric oxide45 11 2412.9SOD3, MTR, MTRR, F5, APOH, GPX1
30fondaparinux4510.9F9, SERPINC1, THBD, F5
31dermatan sulfate4510.8F5, F9, HRG, SERPINC1, THBD
32cyclophosphamide45 50 1112.8F5, F9, APOH, MTHFR, THBD, BCHE
33cobalamin45 2411.8CBS, MTRR, MTHFR, MTR
34benzamidine45 1111.8THBD, F9, SERPINC1, F5
35uric acid45 2411.8SOD3, MTHFR, APOH, F5, CST3
36aprotinin45 1111.8F5, F9, THBD, SERPINC1
37aspirin45 50 29 2413.8MTHFR, BCHE, F5, THBD, SERPINC1, APOH
38polyethylene glycol4510.8CST3, SERPINC1, F5, THBD, BCHE
39hydrogen45 2411.8AHCY, THBD, CBS, MTR, CST3, F9
40hirugen4510.7F5, THBD, SERPINC1
41desmopressin45 60 29 1113.7F9, THBD, SERPINC1, F5
42p0024510.7CBS, CST3, APOH, F5, MTHFR
435,10-methenyltetrahydrofolate4510.7MTR, CBS, MTHFR
44histidine4510.7CBS, MTR, BCHE, HRG, FOLH1, F9
45zinc45 2411.6MTR, HRG, F9, BHMT, CBS, FOLH1
46hirudin4510.6THBD, SERPINC1, F9, F5
47polysaccharide4510.5THBD, SERPINC1, RHD, F5, FOLH1, CST3
48ximelagatran45 1111.5F5, THBD, SERPINC1
49ancrod4510.4F5, SERPINC1, THBD
50kaolin4510.2F9, APOH, F5

GO Terms for genes affiliated with Hyperhomocysteinemia

Sources:
16Gene Ontology
See all sources

Cellular components related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytosolGO:00582910.6CTH, MTRR, MTHFR, MTR, BHMT, CBS
2extracellular spaceGO:00561510.2BCHE, SOD3, CST3, APOH, F5, SERPINC1

Biological processes related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1sulfur amino acid metabolic processGO:00009610.8AHCY, CBS, BHMT, MTR, MTRR, CTH
2cellular nitrogen compound metabolic processGO:03464110.8CTH, MTRR, MTR, BHMT, CBS, AHCY
3methionine biosynthetic processGO:00908610.8MTRR, MTHFR, BHMT
4negative regulation of fibrinolysisGO:05191810.7THBD, HRG, APOH
5methylationGO:03225910.7MTRR, MTR, AHCY
6small molecule metabolic processGO:04428110.7CTH, MTRR, MTHFR, MTR, BHMT, CBS
7transsulfurationGO:01934610.7CBS, CTH
8hydrogen sulfide biosynthetic processGO:07081410.6CTH, CBS
9homocysteine metabolic processGO:05066710.6CBS, MTHFR
10blood coagulationGO:00759610.5F9, F5, HRG, THBD, SERPINC1
11negative regulation of blood coagulationGO:03019510.5THBD, APOH
12water-soluble vitamin metabolic processGO:00676710.4MTR, MTHFR, MTRR
13vitamin metabolic processGO:00676610.2MTRR, MTHFR, MTR

Molecular functions related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:07234110.5CBS, MTHFR
2heparin bindingGO:00820110.4SERPINC1, HRG, APOH, SOD3
3homocysteine S-methyltransferase activityGO:00889810.2BHMT, MTR

Products for genes affiliated with Hyperhomocysteinemia

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  • Proteins
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Sources for Hyperhomocysteinemia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet