MCID: HYP037
MIFTS: 53

Hyperhomocysteinemia malady

Metabolic diseases category
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Summaries for Hyperhomocysteinemia

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Wikipedia:65 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

MalaCards based summary: Hyperhomocysteinemia is related to retinal vein occlusion and vascular disease. An important gene associated with Hyperhomocysteinemia is FOLH1 (folate hydrolase (prostate-specific membrane antigen) 1), and among its related pathways are Folate-Alcohol and Cancer Pathway and Selenocompound metabolism. The compounds 5-Methyltetrahydrofolic acid and methyl-group have been mentioned in the context of this disorder. Affiliated tissues include endothelial, brain and heart, and related mouse phenotypes are liver/biliary system and growth/size/body.

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

Aliases & Classifications for Hyperhomocysteinemia

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 39NCIt, 57SNOMED-CT, 34MeSH
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Hyperhomocysteinemia, Aliases & Descriptions:

Name: Hyperhomocysteinemia 8 10 44 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


External Ids:

Disease Ontology8 DOID:9279
NCIt39 C84770
SNOMED-CT57 419503008
MeSH34 D020138

Related Diseases for Hyperhomocysteinemia

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

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1retinal vein occlusion31.0F5, MTHFR
2vascular disease30.9CBS, SOD3
3vitamin b12 deficiency30.9MTHFR, MTR
4central retinal vein occlusion30.9MTHFR, F5
5atherosclerosis30.7MTR, MTHFR, CBS, SOD3
6portal vein thrombosis30.7MTHFR, F5
7branch retinal artery occlusion30.6F5
8pregnancy loss30.5F5, MTHFR
9pulmonary embolism30.5CBS, MTHFR, F5
10protein s deficiency30.5F5, MTHFR
11megaloblastic anemia30.4MTR
12peripheral vascular disease30.3MTHFR, CBS
13antiphospholipid syndrome30.3F5, MTHFR
14acute myocardial infarction30.3SOD3, CBS, HRG
15methylmalonic acidemia30.3MTHFR, MTR
16thromboembolism30.1CBS, MTHFR, MTR, F5, HRG
17placental abruption30.1F5, MTHFR
18homocysteinemia30.0CBS, MTHFR, MTR, F5
19hypermethioninemia29.9CTH, CBS, AHCY
20thrombophilia29.9CBS, MTHFR, F5, HRG
21neural tube defects29.9CBS, MTHFR, MTRR, MTR
22protein c deficiency29.9HRG, F5, MTHFR
23venous thrombosis29.8AHCY, CBS, MTHFR, MTR, F5, HRG
24myocardial infarction29.7SOD3, CBS, MTHFR, MTR, F5, HRG
25breast cancer29.7CBS, FOLH1, MTHFR, MTRR, MTR
26leukemia29.5AHCY, CBS, MTHFR, MTR
27homocystinuria29.4CTH, F5, BHMT, MTR, MTRR, MTHFR
28retinitis10.6
29endotheliitis10.6
30cerebritis10.5
31artery disease10.5
32eclampsia10.4MTHFR
33dementia10.4
34hypertension10.4
35homocysteinemia due to mthfr deficiency10.4MTHFR, MTR
36parkinson's disease10.3
37venous thromboembolism10.3
38myelomeningocele10.3CBS, MTHFR
39hepatitis10.3
40neural tube defects, folate-sensitive10.3MTRR, MTR
41alzheimer's disease10.3
42diabetes mellitus10.3
43disorders of intracellular cobalamin metabolism10.3MTR, MTRR
44pernicious anemia10.3
45uremia10.3
46insulin resistance10.3
47hepatic vein thrombosis10.2MTHFR, F5
48blood protein disease10.2MTHFR, F5
49antithrombin iii deficiency10.2MTHFR, F5
50intracranial thrombosis10.2MTHFR, F5

Graphical network of the top 20 diseases related to Hyperhomocysteinemia:



Diseases related to hyperhomocysteinemia

Symptoms for Hyperhomocysteinemia

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Drugs & Therapeutics for Hyperhomocysteinemia

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Drug clinical trials:

Search ClinicalTrials for Hyperhomocysteinemia

Search NIH Clinical Center for Hyperhomocysteinemia

Genetic Tests for Hyperhomocysteinemia

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Anatomical Context for Hyperhomocysteinemia

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MalaCards organs/tissues related to Hyperhomocysteinemia:

32
Endothelial, Brain, Heart, Bone, Liver, Kidney, Testes, Monocytes, Cortex, Breast, Skin, Retina, Spinal cord, Skeletal muscle, Colon, Lung, Ovary, Myeloid

Animal Models for Hyperhomocysteinemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperhomocysteinemia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7CTH, F5, BHMT, CBS
2MP:00053787.7CBS, MTHFR, MTRR, BHMT, F5, CTH
3MP:00053765.9HRG, SOD3, CBS, FOLH1, MTHFR, MTRR

Publications for Hyperhomocysteinemia

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Articles related to Hyperhomocysteinemia:

(show top 50)    (show all 765)
idTitleAuthorsYear
1
Endothelial dysfunction and hyperhomocysteinemia in Parkinson's disease: flow-mediated dilation study. (25154960)
2014
2
Hyperhomocysteinemia and hyperglycemia induce and potentiate endothelial dysfunction via I1-calpain activation. (25352635)
2014
3
Central and systemic responses to methionine-induced hyperhomocysteinemia in mice. (25153079)
2014
4
A proteomics study of hyperhomocysteinemia injury of the hippocampal neurons using iTRAQ. (25215643)
2014
5
Hyperhomocysteinemia is an independent predictor of sub-clinical carotid vascular damage in subjects with grade-1 hypertension. (24197804)
2013
6
Comparative antiadhesive properties of crude extract and phenolic fraction isolated from aerial parts of Tribulus pterocarpus during severe hyperhomocysteinemia. (23376508)
2013
7
Hyperhomocysteinemia in bipolar depression: clinical and biochemical correlates. (24193367)
2013
8
Novel spectrophotometric method for the quantitation of urinary xanthurenic acid and its application in identifying individuals with hyperhomocysteinemia associated with Vitamin Ba88 deficiency. (24151616)
2013
9
Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. (22354693)
2012
10
Chronic hyperhomocysteinemia increases inflammatory markers in hippocampus and serum of rats. (22484967)
2012
11
Metabolic interactions between the hyperhomocysteinemia and angiotensin-1 converting enzyme activity in Tunisian patients with coronary heart disease]. (23047907)
2012
12
Hyperhomocysteinemia and related genetic polymorphisms correlate with ulcerative colitis in Chinese Han population in Central China [corrected]. (21947961)
2012
13
The effects of hyperhomocysteinemia on the microcirculation of skin flaps. (21865985)
2011
14
Epithelial-to-mesenchymal transition in podocytes mediated by activation of NADPH oxidase in hyperhomocysteinemia. (21647593)
2011
15
Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. (21126196)
2011
16
Chronic hyperhomocysteinemia causes vascular remodelling by instigating vein phenotype in artery. (21838575)
2011
17
Hyperhomocysteinemia: can't it account for retinoid-induced fracture proneness? (20228554)
2010
18
Hyperhomocysteinemia and sudden cardiac death: potential arrhythmogenic mechanisms. (19485933)
2010
19
Hyperhomocysteinemia-induced myocardial injury after coronary artery bypass. (19917790)
2009
20
Exogenous folate ameliorates ethanol-induced brain hyperhomocysteinemia and exogenous ethanol reduces taurine levels in chick embryos. (19345280)
2009
21
Short hypoxia could attenuate the adverse effects of hyperhomocysteinemia on the developing rat brain by inducing neurogenesis. (19124018)
2009
22
BuChE-K and APOE epsilon4 allele frequencies in Lewy body dementias, and influence of genotype and hyperhomocysteinemia on cognitive decline. (19006190)
2009
23
Chronic diet-induced hyperhomocysteinemia impairs eNOS regulation in mouse mesenteric arteries. (18448615)
2008
24
Mesna for treatment of hyperhomocysteinemia in hemodialysis patients: a placebo-controlled, double-blind, randomized trial. (18337551)
2008
25
Prothrombotic effects of hyperhomocysteinemia and hypercholesterolemia in ApoE-deficient mice. (17082485)
2007
26
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms. (17927652)
2007
27
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. (17620955)
2007
28
Concurrent folate treatment prevents Na+,K+-ATPase activity inhibition and memory impairments caused by chronic hyperhomocysteinemia during rat development. (18023318)
2007
29
Should hyperhomocysteinemia be treated in patients with atherosclerotic disease? (18001620)
2007
30
Association of tow thrombotic risk factors: factor V Leiden and hyperhomocysteinemia. A case report]. (16707235)
2007
31
Adaptive-outward and maladaptive-inward arterial remodeling measured by intravascular ultrasound in hyperhomocysteinemia and diabetes. (16703221)
2006
32
Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in patients with Parkinson's disease. (16787708)
2006
33
Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II. (16046705)
2005
34
A clinical study of hyperhomocysteinemia in rheumatological diseases]. (15840222)
2005
35
Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia? (14972645)
2004
36
MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson's disease. (15354385)
2004
37
Hyperhomocysteinemia, enzyme polymorphism and thiobarbituric Acid reactive system in children with high coronary risk family history. (15466944)
2004
38
TDAG51 is induced by homocysteine, promotes detachment-mediated programmed cell death, and contributes to the development of atherosclerosis in hyperhomocysteinemia. (12738777)
2003
39
Impairment of energy metabolism in hippocampus of rats subjected to chemically-induced hyperhomocysteinemia. (12697299)
2003
40
S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia. (14511677)
2003
41
Cerebral vein thrombosis and mild hyperhomocysteinemia: three new cases. (12522678)
2002
42
Interaction between hyperhomocysteinemia, mutated methylenetetrahydrofolatereductase (MTHFR) and inherited thrombophilic factors in recurrent venous thrombosis. (12428084)
2002
43
Post-methionine-load hyperhomocysteinemia and increased lipoprotein(a) are associated with renal metabolic dysfunction: a hypothesis. (12370840)
2002
44
Effect of hyperhomocysteinemia on protein C activation and activity. (12200374)
2002
45
Cerebrovascular events in patients with significant stenosis of the carotid artery are associated with hyperhomocysteinemia and platelet antigen-1 (Leu33Pro) polymorphism. (11739968)
2001
46
High prevalence of mild hyperhomocysteinemia in patients with abdominal aortic aneurysm. (10957660)
2000
47
MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency. (9090418)
1997
48
Absence of hyperhomocysteinemia in ten patients with primary pulmonary hypertension. (9058503)
1997
49
Cerebral vascular complication of hyperhomocysteinemia. Controlling thromboembolic complications with folates]. (9380637)
1997
50
Hyperhomocysteinemia-induced vascular damage in the minipig. Captopril-hydrochlorothiazide combination prevents elastic alterations. (7850955)
1995

Variations for Hyperhomocysteinemia

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Expression for genes affiliated with Hyperhomocysteinemia

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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

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Pathways related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MTHFR, CBS
29.6MTR, CTH
3
Show member pathways
flavin biosynthesis IV (mammalian)37
molybdenum cofactor biosynthesis37
coenzyme A biosynthesis37
thiamin salvage III37
alanine biosynthesis III37
thio-molybdenum cofactor biosynthesis37
biotin-carboxyl carrier protein assembly37
9.4MTR, MTHFR, MTRR
4
Show member pathways
choline degradation I37
glycine biosynthesis III37
serine and glycine biosynthesis37
glycine betaine degradation37
glycine biosynthesis37
9.4CTH, CBS, BHMT
5
Show member pathways
9.2MTR, MTRR, AHCY
6
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.0MTR, MTHFR, CBS, CTH
7
Show member pathways
cysteine biosynthesis/homocysteine degradation37
8.8CBS, CTH, MTR, AHCY
8
Show member pathways
Vitamin B12 Metabolism37
8.7MTRR, MTHFR, SOD3, AHCY
9
Show member pathways
thioredoxin pathway37
8.5CTH, MTHFR, MTR, SOD3, CBS
10
Show member pathways
creatine-phosphate biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
8.0CBS, MTRR, CTH, MTR, BHMT, AHCY
11
Show member pathways
8.0MTR, BHMT, MTRR, CBS, AHCY, CTH
12
Show member pathways
7.7CTH, AHCY, CBS, MTHFR, MTRR, BHMT
13
Show member pathways
One Carbon Metabolism37
dTMP de novo biosynthesis (mitochondrial)37
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate37
Trans-sulfuration and one carbon metabolism37
methionine salvage37
Methionine metabolism60
7.5MTHFR, FOLH1, AHCY, MTRR, MTR, BHMT

Compounds for genes affiliated with Hyperhomocysteinemia

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Sources:
24HMDB, 44Novoseek, 50PharmGKB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
15-Methyltetrahydrofolic acid2410.1MTHFR, MTR
2methyl-group4410.1MTHFR, MTR
3vitamin b-complex, plain5010.1MTHFR, MTRR
4L-Cystathionine2410.0CBS, CTH
5Selenocystathionine2410.0CBS, CTH
6Cob(I)alamin2410.0MTRR, MTR
7cob(ii)alamin44 2410.9MTRR, MTR
8propargylglycine44 2810.9CBS, CTH
95,10-methenyltetrahydrofolate449.9MTR, MTHFR, CBS
10Pyridoxine24 1110.9MTHFR, CBS
11Selenohomocysteine249.8CBS, AHCY
12hydroxocobalamin44 1110.8MTR, MTRR, MTHFR
13cyanocobalamin50 24 1111.8MTR, MTRR, MTHFR
14tetrahydrofolate449.8MTHFR, MTRR, MTR
15riboflavin44 24 1111.8MTHFR, MTRR, BHMT
16L-Methionine24 1110.7BHMT, MTR, MTRR
17adenosylcobalamin44 2410.7MTR, MTHFR
18homocysteine thiolactone449.6AHCY, MTR
19Pyridoxal 5'-phosphate249.6CTH, MTHFR, CBS
20methylcobalamin44 2410.5CBS, MTHFR, MTRR, MTR
21b vitamins449.5CBS, MTHFR, MTRR, MTR
22methylmalonic acid44 2410.5CBS, MTHFR, MTRR, MTR
23cobalamin44 2410.5MTR, MTRR, MTHFR, CBS
24pyridoxal 5-phosphate449.4CBS, MTHFR, MTR, CTH
25thymidylate449.4CBS, MTHFR, MTRR, MTR
26purine44 2410.3AHCY, CBS, MTHFR, MTR
27methotrexate50 44 1111.2CBS, FOLH1, MTHFR, MTRR, MTR
28betaine44 2410.2CBS, MTHFR, MTRR, MTR, BHMT
29uric acid44 2410.0F5, MTHFR, SOD3
30s-adenosylhomocysteine44 2410.0AHCY, CBS, MTHFR, MTRR, MTR
315-methyltetrahydrofolate44 119.9CBS, MTHFR, MTRR, MTR, F5
32histidine448.9CBS, FOLH1, MTR, HRG
33aspartate448.8FOLH1, MTHFR, MTRR, MTR, F5
34s-adenosylmethionine44 24 1110.6AHCY, CBS, MTHFR, MTRR, MTR, BHMT
35nadph44 249.6SOD3, MTHFR, MTRR, MTR
36fibrinogen448.6CBS, MTHFR, F5, HRG
37vitamin b6448.5CBS, MTHFR, MTR, BHMT, F5, CTH
38vitamin b12448.3F5, BHMT, MTR, MTRR, MTHFR, FOLH1
39alanine448.2SOD3, FOLH1, MTHFR, MTRR, F5, CTH
40zinc44 249.2SOD3, CBS, FOLH1, MTR, BHMT, HRG
41nitric oxide44 24 1110.1SOD3, CBS, MTRR, MTR, F5, CTH
42glutamate448.1CBS, FOLH1, MTHFR, MTRR, MTR, F5
43cystathionine448.1CBS, CTH, F5, BHMT, MTR, MTRR
44arginine447.8HRG, F5, CBS, SOD3, AHCY
45methionine447.7CTH, BHMT, MTR, MTRR, MTHFR, CBS
46copper44 248.4AHCY, SOD3, CBS, FOLH1, MTR, F5
47homocysteine44 247.8SOD3, AHCY, CBS, FOLH1, MTHFR, MTRR
48folate446.8CTH, F5, BHMT, MTR, MTRR, MTHFR
49serine446.4SOD3, CBS, FOLH1, MTHFR, MTRR, MTR
50cysteine446.3AHCY, SOD3, HRG, CTH, F5, BHMT

GO Terms for genes affiliated with Hyperhomocysteinemia

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Cellular components related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:0310939.0HRG, F5
2cytosolGO:0058296.9CTH, AHCY, SOD3, CBS, MTHFR, MTRR

Biological processes related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:05066710.0CBS, MTHFR
2transsulfurationGO:0193469.9CTH, CBS
3hydrogen sulfide biosynthetic processGO:0708149.9CTH, CBS
4response to folic acidGO:0515939.9MTHFR, CBS
5folic acid metabolic processGO:0466559.8MTHFR, MTRR
6methionine biosynthetic processGO:0090869.7MTRR, BHMT, MTHFR
7water-soluble vitamin metabolic processGO:0067679.6MTR, MTRR, MTHFR
8blood circulationGO:0080159.6MTHFR, F5
9vitamin metabolic processGO:0067669.5MTRR, MTR, MTHFR
10methylationGO:0322599.4MTR, AHCY, MTRR
11cobalamin metabolic processGO:0092359.4MTRR, MTR
12xenobiotic metabolic processGO:0068059.1MTR, MTRR, AHCY
13sulfur amino acid metabolic processGO:0000968.3CTH, BHMT, MTR, MTRR, CBS, AHCY
14cellular nitrogen compound metabolic processGO:0346418.3AHCY, CBS, MTRR, MTR, BHMT, CTH
15small molecule metabolic processGO:0442818.0MTR, AHCY, CBS, MTHFR, MTRR, BHMT

Molecular functions related to Hyperhomocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:0723419.9MTHFR, CBS
2homocysteine S-methyltransferase activityGO:0088989.9BHMT, MTR
3NADP bindingGO:0506619.8MTRR, MTHFR
4flavin adenine dinucleotide bindingGO:0506609.8MTRR, MTHFR
5pyridoxal phosphate bindingGO:0301709.4CTH, CBS
6copper ion bindingGO:0055079.2SOD3, F5

Products for genes affiliated with Hyperhomocysteinemia

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Sources for Hyperhomocysteinemia

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet