MCID: HYP037
MIFTS: 45

Hyperhomocysteinemia malady

Summaries for Hyperhomocysteinemia

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Wikipedia:63 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

MalaCards based summary: Hyperhomocysteinemia, also known as homocysteinemia, is related to retinal vein occlusion and vitamin b12 deficiency. 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 methyl-group and 5-Methyltetrahydrofolic acid have been mentioned in the context of this disorder. Affiliated tissues include endothelial, brain and bone, and related mouse phenotypes are liver/biliary system and growth/size/body.

Disease Ontology:9 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:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt
See all sources

Hyperhomocysteinemia, Aliases & Descriptions:

Name: Hyperhomocysteinemia 9 11 43 60
 
Homocysteinemia 60


External Ids:

Disease Ontology9 DOID:9279
MeSH33 D020138
SNOMED-CT55 419503008
NCIt38 C84770

Related Diseases for Hyperhomocysteinemia

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

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1retinal vein occlusion31.0F5, MTHFR
2vitamin b12 deficiency31.0MTHFR, MTR
3vascular disease30.9CBS, SOD3
4central retinal vein occlusion30.9MTHFR, F5
5coronary artery disease30.9CBS, MTHFR, MTR
6atherosclerosis30.7MTR, MTHFR, CBS, SOD3
7portal vein thrombosis30.7MTHFR, F5
8branch retinal artery occlusion30.6F5
9pulmonary embolism30.5CBS, MTHFR, F5
10protein s deficiency30.5F5, MTHFR
11megaloblastic anemia30.4MTR
12peripheral vascular disease30.3MTHFR, CBS
13acute myocardial infarction30.3SOD3, CBS, HRG
14antiphospholipid syndrome30.3F5, MTHFR
15methylmalonic acidemia30.3MTHFR, MTR
16budd-chiari syndrome30.2MTHFR, F5
17placental abruption30.1F5, MTHFR
18hypermethioninemia29.9CTH, CBS, AHCY
19thrombophilia29.9CBS, MTHFR, F5, HRG
20neural tube defects29.9CBS, MTHFR, MTRR, MTR
21protein c deficiency29.9HRG, F5, MTHFR
22homocysteinemia29.7CBS, MTHFR, MTR, F5
23colorectal cancer29.7MTR, MTRR, MTHFR, FOLH1
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
30cerebritis10.6
31artery disease10.5
32dementia10.4
33eclampsia10.4MTHFR
34hepatitis10.4
35homocysteinemia due to mthfr deficiency10.3MTHFR, MTR
36myelomeningocele10.3CBS, MTHFR
37neural tube defects, folate-sensitive10.3MTRR, MTR
38disorders of intracellular cobalamin metabolism10.3MTR, MTRR
39pernicious anemia10.3
40ischemia10.3
41uremia10.3
42inflammatory bowel disease10.3
43nonarteritic anterior ischemic optic neuropathy10.2F5, MTHFR
44crohn's disease10.2
45retinal artery occlusion10.2
46aneurysm10.2
47blood protein disease10.2MTHFR, F5
48thrombophilia due to antithrombin iii deficiency10.2MTHFR, F5
49intracranial thrombosis10.2MTHFR, F5
50folic acid deficiency anemia10.2MTR, MTHFR, CBS

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:

31
Endothelial, Brain, Bone, Heart, Liver, Kidney, Testes, Monocytes, Cortex, Skeletal muscle, Breast, Skin, Bone marrow, Retina, Spinal cord, Colon, Lung, Ovary, Myeloid

Animal Models for Hyperhomocysteinemia or affiliated genes

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MGI Mouse Phenotypes related to Hyperhomocysteinemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.7CTH, F5, BHMT, CBS
2MP:00053787.7CTH, CBS, MTHFR, MTRR, BHMT, F5
3MP:00053765.9MTR, F5, CTH, HRG, MTRR, MTHFR

Publications for Hyperhomocysteinemia

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Articles related to Hyperhomocysteinemia:

(show top 50)    (show all 788)
idTitleAuthorsYear
1
Hyperhomocysteinemia regulated SCF expression in cultured cardiomyocytes via modulation of NF-I_B activities. (25896131)
2015
2
Assessment of a possible link between hyperhomocysteinemia and hyperuricemia. (25646870)
2015
3
Acute Myocardial Infarction in a Young Lady due to Vitamin B12 Deficiency Induced Hyperhomocysteinemia. (25838876)
2015
4
Endothelial dysfunction and hyperhomocysteinemia in Parkinson's disease: flow-mediated dilation study. (25154960)
2014
5
Hyperhomocysteinemia and hyperglycemia induce and potentiate endothelial dysfunction via I1-calpain activation. (25352635)
2014
6
Central and systemic responses to methionine-induced hyperhomocysteinemia in mice. (25153079)
2014
7
A proteomics study of hyperhomocysteinemia injury of the hippocampal neurons using iTRAQ. (25215643)
2014
8
Hyperhomocysteinemia is an independent predictor of sub-clinical carotid vascular damage in subjects with grade-1 hypertension. (24197804)
2013
9
Comparative antiadhesive properties of crude extract and phenolic fraction isolated from aerial parts of Tribulus pterocarpus during severe hyperhomocysteinemia. (23376508)
2013
10
Hyperhomocysteinemia in bipolar depression: clinical and biochemical correlates. (24193367)
2013
11
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
12
Coenzyme Q10, hyperhomocysteinemia and MTHFR C677T polymorphism in levodopa-treated Parkinson's disease patients. (22354693)
2012
13
Chronic hyperhomocysteinemia increases inflammatory markers in hippocampus and serum of rats. (22484967)
2012
14
Metabolic interactions between the hyperhomocysteinemia and angiotensin-1 converting enzyme activity in Tunisian patients with coronary heart disease]. (23047907)
2012
15
Hyperhomocysteinemia and related genetic polymorphisms correlate with ulcerative colitis in Chinese Han population in Central China [corrected]. (21947961)
2012
16
The effects of hyperhomocysteinemia on the microcirculation of skin flaps. (21865985)
2011
17
Association of hyperhomocysteinemia with liver steatosis in patients with chronic hepatitis C]. (21051057)
2011
18
Epithelial-to-mesenchymal transition in podocytes mediated by activation of NADPH oxidase in hyperhomocysteinemia. (21647593)
2011
19
Mechanisms of cardiovascular remodeling in hyperhomocysteinemia. (21126196)
2011
20
Hyperhomocysteinemia: can't it account for retinoid-induced fracture proneness? (20228554)
2010
21
Hyperhomocysteinemia and sudden cardiac death: potential arrhythmogenic mechanisms. (19485933)
2010
22
Hyperhomocysteinemia-induced myocardial injury after coronary artery bypass. (19917790)
2009
23
Exogenous folate ameliorates ethanol-induced brain hyperhomocysteinemia and exogenous ethanol reduces taurine levels in chick embryos. (19345280)
2009
24
Short hypoxia could attenuate the adverse effects of hyperhomocysteinemia on the developing rat brain by inducing neurogenesis. (19124018)
2009
25
Chronic diet-induced hyperhomocysteinemia impairs eNOS regulation in mouse mesenteric arteries. (18448615)
2008
26
Mesna for treatment of hyperhomocysteinemia in hemodialysis patients: a placebo-controlled, double-blind, randomized trial. (18337551)
2008
27
Prothrombotic effects of hyperhomocysteinemia and hypercholesterolemia in ApoE-deficient mice. (17082485)
2007
28
Efficacy of folic acid in children with migraine, hyperhomocysteinemia and MTHFR polymorphisms. (17927652)
2007
29
Genetically based hypertension generated through interaction of mild hypoalphalipoproteinemia and mild hyperhomocysteinemia. (17620955)
2007
30
Concurrent folate treatment prevents Na+,K+-ATPase activity inhibition and memory impairments caused by chronic hyperhomocysteinemia during rat development. (18023318)
2007
31
Should hyperhomocysteinemia be treated in patients with atherosclerotic disease? (18001620)
2007
32
Adaptive-outward and maladaptive-inward arterial remodeling measured by intravascular ultrasound in hyperhomocysteinemia and diabetes. (16703221)
2006
33
Hyperhomocysteinemia and methylenetetrahydrofolate reductase polymorphism in patients with Parkinson's disease. (16787708)
2006
34
Folate deficiency-induced hyperhomocysteinemia attenuates, and folic acid supplementation restores, the functional activities of rat coagulation factors XII, X, and II. (16046705)
2005
35
A clinical study of hyperhomocysteinemia in rheumatological diseases]. (15840222)
2005
36
Novel insertion and deletion mutations in the 5'-UTR of the folate receptor-alpha gene: an additional contributor to hyperhomocysteinemia? (14972645)
2004
37
MTHFR C677T polymorphism, folic acid and hyperhomocysteinemia in levodopa treated patients with Parkinson's disease. (15354385)
2004
38
Hyperhomocysteinemia, enzyme polymorphism and thiobarbituric Acid reactive system in children with high coronary risk family history. (15466944)
2004
39
TDAG51 is induced by homocysteine, promotes detachment-mediated programmed cell death, and contributes to the development of atherosclerosis in hyperhomocysteinemia. (12738777)
2003
40
Impairment of energy metabolism in hippocampus of rats subjected to chemically-induced hyperhomocysteinemia. (12697299)
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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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 Suite gene sharing:

(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)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.4MTR, MTHFR, MTRR
4
Show member pathways
choline degradation I36
glycine biosynthesis III36
serine and glycine biosynthesis36
glycine betaine degradation36
glycine biosynthesis36
9.4CTH, CBS, BHMT
5
Show member pathways
9.2MTR, MTRR, AHCY
6
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.0MTR, MTHFR, CBS, CTH
7
Show member pathways
cysteine biosynthesis/homocysteine degradation36
8.8CBS, CTH, MTR, AHCY
8
Show member pathways
Vitamin B12 Metabolism36
8.7MTRR, MTHFR, SOD3, AHCY
9
Show member pathways
thioredoxin pathway36
8.5CTH, MTHFR, MTR, SOD3, CBS
10
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
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 Metabolism36
dTMP de novo biosynthesis (mitochondrial)36
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate36
Trans-sulfuration and one carbon metabolism36
methionine salvage36
Methionine metabolism58
7.5MTHFR, FOLH1, AHCY, MTRR, MTR, BHMT

Compounds for genes affiliated with Hyperhomocysteinemia

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Sources:
43Novoseek, 24HMDB, 49PharmGKB, 28IUPHAR, 12DrugBank
See all sources

Compounds related to Hyperhomocysteinemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 77)
idCompoundScoreTop Affiliating Genes
1methyl-group4310.1MTHFR, MTR
25-Methyltetrahydrofolic acid2410.1MTR, MTHFR
3vitamin b-complex, plain4910.1MTRR, MTHFR
4L-Cystathionine2410.0CTH, CBS
5propargylglycine43 2811.0CBS, CTH
6cob(ii)alamin43 2411.0MTRR, MTR
7Selenocystathionine2410.0CBS, CTH
8Cob(I)alamin249.9MTR, MTRR
95,10-methenyltetrahydrofolate439.9CBS, MTR, MTHFR
10Pyridoxine24 1210.9MTHFR, CBS
11Selenohomocysteine249.8CBS, AHCY
12hydroxocobalamin43 1210.8MTR, MTRR, MTHFR
13cyanocobalamin49 24 1211.8MTR, MTRR, MTHFR
14tetrahydrofolate439.8MTR, MTRR, MTHFR
15riboflavin43 24 1211.8MTHFR, MTRR, BHMT
16L-Methionine24 1210.7BHMT, MTRR, MTR
17adenosylcobalamin43 2410.7MTHFR, MTR
18homocysteine thiolactone439.6MTR, AHCY
19Pyridoxal 5'-phosphate249.6MTHFR, CTH, CBS
20b vitamins439.5MTHFR, MTRR, CBS, MTR
21methylcobalamin43 2410.5CBS, MTHFR, MTRR, MTR
22methylmalonic acid43 2410.5MTRR, MTR, MTHFR, CBS
23cobalamin43 2410.5MTR, MTRR, MTHFR, CBS
24pyridoxal 5-phosphate439.4CBS, CTH, MTHFR, MTR
25thymidylate439.4MTRR, MTR, MTHFR, CBS
26purine43 2410.3AHCY, CBS, MTHFR, MTR
27methotrexate49 43 1211.2MTR, MTRR, MTHFR, FOLH1, CBS
28betaine43 2410.2MTHFR, MTRR, CBS, BHMT, MTR
29uric acid43 2410.0SOD3, F5, MTHFR
30s-adenosylhomocysteine43 2410.0MTR, MTRR, MTHFR, AHCY, CBS
315-methyltetrahydrofolate43 129.9MTHFR, F5, MTR, MTRR, CBS
32histidine438.9CBS, FOLH1, MTR, HRG
33aspartate438.8MTRR, FOLH1, MTHFR, MTR, F5
34s-adenosylmethionine43 24 1210.6BHMT, MTR, MTRR, MTHFR, CBS, AHCY
35nadph43 249.6SOD3, MTR, MTHFR, MTRR
36fibrinogen438.6F5, MTHFR, HRG, CBS
37vitamin b6438.5F5, MTHFR, MTR, BHMT, CBS, CTH
38vitamin b12438.3F5, BHMT, MTR, FOLH1, MTHFR, CBS
39alanine438.2MTRR, SOD3, FOLH1, CTH, F5, MTHFR
40zinc43 249.2HRG, BHMT, FOLH1, CBS, SOD3, MTR
41nitric oxide43 24 1210.1CTH, SOD3, CBS, MTRR, MTR, F5
42glutamate438.1F5, MTRR, CTH, FOLH1, MTR, CBS
43cystathionine438.1F5, BHMT, MTR, MTRR, MTHFR, CBS
44arginine437.8AHCY, HRG, CBS, F5, SOD3
45methionine437.7MTRR, BHMT, MTR, SOD3, MTHFR, CTH
46copper43 248.4HRG, FOLH1, MTR, AHCY, SOD3, F5
47homocysteine43 247.8SOD3, CTH, F5, BHMT, CBS, FOLH1
48folate436.8CTH, F5, BHMT, MTR, MTRR, MTHFR
49serine436.4CTH, HRG, SOD3, FOLH1, MTHFR, F5
50cysteine436.3MTR, F5, CTH, BHMT, HRG, MTHFR

GO Terms for genes affiliated with Hyperhomocysteinemia

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Cellular components related to Hyperhomocysteinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:00310939.0HRG, F5
2cytosolGO:00058296.9CTH, AHCY, SOD3, CBS, MTHFR, MTRR

Biological processes related to Hyperhomocysteinemia according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:005066710.0CBS, MTHFR
2transsulfurationGO:00193469.9CTH, CBS
3hydrogen sulfide biosynthetic processGO:00708149.9CTH, CBS
4response to folic acidGO:00515939.9MTHFR, CBS
5folic acid metabolic processGO:00466559.8MTHFR, MTRR
6methionine biosynthetic processGO:00090869.7MTRR, BHMT, MTHFR
7water-soluble vitamin metabolic processGO:00067679.6MTR, MTRR, MTHFR
8blood circulationGO:00080159.6MTHFR, F5
9vitamin metabolic processGO:00067669.5MTRR, MTR, MTHFR
10methylationGO:00322599.4MTR, AHCY, MTRR
11cobalamin metabolic processGO:00092359.4MTRR, MTR
12xenobiotic metabolic processGO:00068059.1MTR, MTRR, AHCY
13sulfur amino acid metabolic processGO:00000968.3CTH, BHMT, MTR, MTRR, CBS, AHCY
14cellular nitrogen compound metabolic processGO:00346418.3AHCY, CBS, MTRR, MTR, BHMT, CTH
15small molecule metabolic processGO:00442818.0MTR, AHCY, CBS, MTHFR, MTRR, BHMT

Molecular functions related to Hyperhomocysteinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:00723419.9MTHFR, CBS
2homocysteine S-methyltransferase activityGO:00088989.9BHMT, MTR
3NADP bindingGO:00506619.8MTRR, MTHFR
4flavin adenine dinucleotide bindingGO:00506609.8MTRR, MTHFR
5pyridoxal phosphate bindingGO:00301709.4CTH, CBS
6copper ion bindingGO:00055079.2SOD3, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet