MCID: HMC014
MIFTS: 40

Homocysteinemia malady

Rare diseases category

Summaries for Homocysteinemia

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MalaCards based summary: Homocysteinemia is related to homocysteinemia due to mthfr deficiency and vascular disease. An important gene associated with Homocysteinemia is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are Folate-Alcohol and Cancer Pathway and Trans-sulfuration pathway. The compounds 5-Methyltetrahydrofolic acid and methyl-group have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and smooth muscle, and related mouse phenotypes are reproductive system and integument.

Aliases & Classifications for Homocysteinemia

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Sources:
41NIH Rare Diseases, 43Novoseek, 22GTR, 60UMLS
See all sources

Homocysteinemia, Aliases & Descriptions:

Name: Homocysteinemia 41 43 22 60


Classifications:

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


Related Diseases for Homocysteinemia

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

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia due to mthfr deficiency31.2MTHFR, MTR
2vascular disease31.1ELN, CBS
3arteriosclerosis30.8ELN, MTHFR
4cerebrovascular disease30.6MTR, MTHFR, CBS
5vitamin b12 deficiency30.5MTHFR, MTR
6methylmalonic acidemia30.4MTR, MMACHC
7myocardial infarction29.8F5, CRP, MTR, MTHFR, CBS
8down syndrome29.7CBS, MTHFR, MTRR, MTR, SLC19A1
9homocystinuria29.6FBN1, F5, MTR, MTRR, MTHFR, CBS
10systemic lupus erythematosus29.5CRP, FBN1, F2
11coronary artery disease29.4FBN1, CBS, MTHFR, MTR, CRP
12atherosclerosis29.2FBN1, CBS, ELN, MTHFR, MTR, CRP
13hyperhomocysteinemia28.2F2, SLC19A1, F5, CRP, MTR, MTRR
14riboflavin deficiency10.5MTHFR
15branch retinal artery occlusion10.5F5
16factor xiii deficiency10.5F5
17factor xii deficiency10.5F5
18eclampsia10.5MTHFR
19factor viii deficiency10.5F5
20lens subluxation10.4FBN1
21central retinal vein occlusion10.4F5, MTHFR
22peripheral vascular disease10.4CBS, MTHFR
23nonarteritic anterior ischemic optic neuropathy10.4MTHFR, F5
24placental abruption10.4MTHFR, F5
25budd-chiari syndrome10.4MTHFR, F5
26myelomeningocele10.4CBS, MTHFR
27retinal vein occlusion10.4MTHFR, F5
28intracranial thrombosis10.4MTHFR, F5
29aortic disease10.4FBN1
30hellp syndrome10.3MTHFR, F5
31neural tube defects, folate-sensitive10.3MTRR, MTR
32endotheliitis10.3
33mediastinitis10.3CRP
34stroke, ischemic10.3F5, MTHFR
35hypoprothrombinemia10.3F5, F2
36factor x deficiency10.3F2, F5
37factor v deficiency10.3F2, F5
38cerebritis10.3
39factor xi deficiency, autosomal recessive10.3F2, F5
40isolated ectopia lentis10.3FBN1, CBS
41dysfibrinogenemia10.3F2, F5
42hemorrhagic disease10.3F2, F5
43aortic valve disease 110.2FBN1, ELN
44von willebrand's disease10.2F2, F5
45thoracic aortic aneurysm10.2FBN1, ELN
46factor vii deficiency10.2F2, F5
47scott syndrome10.2F2, F5
48supravalvar aortic stenosis10.2FBN1, ELN
49hemophilia a10.2F2, F5
50exfoliation syndrome10.2FBN1, ELN

Graphical network of the top 20 diseases related to Homocysteinemia:



Diseases related to homocysteinemia

Symptoms for Homocysteinemia

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Drugs & Therapeutics for Homocysteinemia

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Drug clinical trials:

Search ClinicalTrials for Homocysteinemia

Search NIH Clinical Center for Homocysteinemia

Genetic Tests for Homocysteinemia

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Genetic tests related to Homocysteinemia:

id Genetic test Affiliating Genes
1 Homocysteinemia22

Anatomical Context for Homocysteinemia

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MalaCards organs/tissues related to Homocysteinemia:

31
Heart, Endothelial, Smooth muscle, Kidney, Liver, Lung, Ovary

Animal Models for Homocysteinemia or affiliated genes

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MGI Mouse Phenotypes related to Homocysteinemia:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.2SLC19A1, MTHFR, CBS, FBN1, F2
2MP:00107717.9F2, FBN1, CBS, MTHFR, F5, SLC19A1
3MP:00053807.8F2, FBN1, CBS, F5, SLC19A1
4MP:00053787.4F2, FBN1, CBS, MTHFR, MTRR, F5
5MP:00053857.4F2, FBN1, CBS, ELN, CRP, F5
6MP:00107687.3F2, FBN1, CBS, ELN, MTHFR, MTR
7MP:00053766.1SLC19A1, F2, FBN1, CBS, ELN, MTHFR

Publications for Homocysteinemia

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Articles related to Homocysteinemia:

(show top 50)    (show all 107)
idTitleAuthorsYear
1
Uricemia and homocysteinemia: nontraditional risk factors in the early stages of chronic kidney disease--preliminary data. (24763881)
2014
2
Recurrent cerebral venous thrombosis associated with heterozygote methylenetetrahydrofolate reductase C677T mutation and sickle cell trait without homocysteinemia: an autopsy case report and review of literature. (25074331)
2014
3
Preventive effects of Lentinus edodes on homocysteinemia in mice. (24137209)
2013
4
Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population. (23641747)
2013
5
Increased homocysteinemia is associated with beneficial effects on body weight after long-term high-protein, low-fat diet in rats. (22554959)
2012
6
The contribution of portal drained viscera to circadian homocysteinemia in pigs. (23365285)
2012
7
Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake. (23014492)
2012
8
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis. (21560828)
2011
9
Triacylglycerol/phospholipid molecular species profiling of fatty livers and regenerated non-fatty livers in cystathionine beta-synthase-deficient mice, an animal model for homocysteinemia/homocystinuria. (21301820)
2011
10
Relation of homocysteinemia to contrast-induced nephropathy in patients undergoing percutaneous coronary intervention. (21791335)
2011
11
Hyper-homocysteinemia: a novel risk factor or a powerful marker for cardiovascular diseases? Pathogenetic and therapeutical uncertainties. (21234645)
2011
12
Homocysteinemia in polycystic ovary syndrome women]. (20512259)
2010
13
Impacts of hyper-homocysteinemia and white matter hyper-intensity in Alzheimer's disease patients with normal creatinine: an MRI-based study with longitudinal follow-up. (20455861)
2010
14
Severe In vivo hyper-homocysteinemia is not associatedwith elevation of amyloid-beta peptides in the Tg2576 mice. (20555139)
2010
15
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
16
The metabolic syndrome is not associated with homocysteinemia: the Persian Gulf Healthy Heart Study. (19794288)
2009
17
Homocysteinemia in hypertensive patients with renal target organ damage (mild renal dysfunction). (18559300)
2008
18
Differential associations between lipid-lowering drugs, statins and fibrates, and venous thromboembolism: role of drug induced homocysteinemia? (18048086)
2008
19
Homocysteinemia as an independent risk factor in the Chinese population at a high risk of coronary artery disease. (17659928)
2007
20
Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment. (17481664)
2007
21
Influence of PON1 polymorphisms on the association between serum paraoxonase 1 and homocysteinemia in a general population. (16595840)
2006
22
Hyper-homocysteinemia is not a main feature of juvenile uncomplicated type 1 diabetes. (15725691)
2005
23
Inverse correlation between phenylacetate hydrolase activity of the serum PON1 protein and homocysteinemia in humans. (15630512)
2005
24
Impact of homocysteinemia on long-term renal transplant survival. (16182810)
2005
25
Folic acid and vitamin E supplementation effects on homocysteinemia, endothelial function and plasma antioxidant capacity in young myocardial-infarction patients. (14597156)
2004
26
The achievement of normal homocysteinemia in regular extracorporeal dialysis patients. (15365962)
2004
27
A case of ischemic cerebral infarction associated with acute posterior multifocal placoid pigment epitheliopathy, CNS vasculitis, vitamin B(12) deficiency and homocysteinemia. (15383766)
2004
28
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. (12923861)
2003
29
Homocysteinemia in psychiatric disorders: association with dementia and depression, but not schizophrenia in female patients. (14666412)
2003
30
Homocysteinemia and ovariectomy--initial experience with functional monitoring]. (12661370)
2002
31
Homocysteinemia in the emergency department. (11014083)
2000
32
Genetic modulation of homocysteinemia. (11011843)
2000
33
Homocysteinemia, serum folate and vitamin B12 in very young patients with diabetes mellitus type 1. (11154158)
2000
34
Extracellular magnesium regulates effects of vitamin B6, B12 and folate on homocysteinemia-induced depletion of intracellular free magnesium ions in canine cerebral vascular smooth muscle cells: possible relationship to [Ca2+]i, atherogenesis and stroke. (10553943)
1999
35
Homocysteinemia: new information about an old risk factor for vascular disease. (10537928)
1998
36
Atherogenic diet alters folate enzymes in mice: implications of folate deficient homocysteinemia. (10410464)
1998
37
The role of hyper-homocysteinemia in the etiology of some vascular diseases]. (9769688)
1998
38
Homocysteinemia as a risk factor for atherosclerosis: a review. (9423939)
1997
39
Elevated high-density lipoprotein cholesterol, not protective in the presence of homocysteinemia. (9068544)
1997
40
Perspective: a mechanism underlying homocysteinemia and increased risk of coronary artery and cerebrovascular disease. (8941135)
1996
41
Carbon tetrachloride-induced hepatic injury is associated with global DNA hypomethylation and homocysteinemia: effect of S-adenosylmethionine treatment. (7557886)
1995
42
1H NMR determination of urinary betaine in patients with premature vascular disease and mild homocysteinemia. (7533065)
1995
43
Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. (8236162)
1993
44
Vitamin status and intake as primary determinants of homocysteinemia in an elderly population. (8133587)
1993
45
Homocysteinemia due to folate deficiency. (3574134)
1987
46
Homocysteinemia: depressed plasma serine levels. (3100911)
1987
47
Homocysteinemia, ischemic heart disease, and the carrier state for homocystinuria. (6684724)
1983
48
Homocysteine thiolactone and experimental homocysteinemia. (7082327)
1982
49
Experimental homocysteinemia in pigs: comparison with studies in sixteen homocystinuric patients. (7098848)
1982
50
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. (5792556)
1969

Variations for Homocysteinemia

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Expression for genes affiliated with Homocysteinemia

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Search GEO for disease gene expression data for Homocysteinemia.

Pathways for genes affiliated with Homocysteinemia

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Pathways related to Homocysteinemia according to GeneCards Suite gene sharing:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CBS, MTHFR
2
Show member pathways
cysteine biosynthesis/homocysteine degradation36
9.9MTR, CBS
3
Show member pathways
Vitamin B12 Metabolism36
9.7MTRR, MTHFR
4
Show member pathways
9.6F5, F2
5
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.6MTR, MTHFR, CBS
69.5SLC19A1, MMACHC
7
Show member pathways
9.5ELN, FBN1
8
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
9.4CBS, MTRR, MTR
9
Show member pathways
9.4MTR, MTRR, CBS
10
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
9.1CBS, MTHFR, MTRR, MTR
11
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
8.5SLC19A1, MTR, MTRR, MTHFR, MMACHC
128.5MMACHC, MTHFR, MTRR, MTR, SLC19A1
13
Show member pathways
thioredoxin pathway36
8.2F2, CBS, MTHFR, MTR, CRP
14
Show member pathways
8.2MMACHC, CBS, MTHFR, MTRR, MTR, SLC19A1

Compounds for genes affiliated with Homocysteinemia

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

Compounds related to Homocysteinemia according to GeneCards Suite gene sharing:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
15-Methyltetrahydrofolic acid2410.1MTHFR, MTR
2methyl-group4310.1MTR, MTHFR
35,10-methenyltetrahydrofolate4310.0MTR, MTHFR, CBS
4vitamin b-complex, plain499.9MTRR, MTHFR
5Cob(I)alamin249.8MTRR, MTR
6cob(ii)alamin43 2410.8MTRR, MTR
710-formyltetrahydrofolate439.7SLC19A1, MTR, MTHFR
8inogatran439.6F5, F2
9pyridoxal 5-phosphate439.6MTR, MTHFR, CBS
10b vitamins439.5MTR, MTRR, CBS, MTHFR
11methylcobalamin43 2410.5MTR, MTRR, MTHFR, CBS
12folic acid49 24 1211.5MTRR, MTHFR, SLC19A1
13betaine43 2410.5MTHFR, MTRR, MTR, CBS
14methylmalonic acid43 2410.5CBS, MTHFR, MTRR, MTR
15s-adenosylhomocysteine43 2410.5CBS, MTRR, MTHFR, MTR
16cacl2439.5FBN1, ELN, F5
17cyanocobalamin49 24 1211.5MMACHC, MTHFR, MTRR, MTR
18hydroxocobalamin43 1210.4MMACHC, MTR, MTHFR, MTRR
19copper43 2410.4CBS, ELN, MTR, F5
20purine43 2410.4SLC19A1, MTHFR, CBS, MTR
21tetrahydrofolate439.3MTRR, SLC19A1, MTR, MTHFR
22dihydrofolate439.3MTR, SLC19A1, MTHFR
23sulfasalazine28 43 49 1212.0MTHFR, CRP, SLC19A1
24p00001439.0CRP, FBN1, MTHFR
25p002439.0CBS, MTHFR, F5, CRP
26thymidylate439.0MTR, MTHFR, CBS, SLC19A1, MTRR
27s-adenosylmethionine43 24 1211.0SLC19A1, CBS, MTHFR, MTRR, MTR
28cyclophosphamide43 49 1211.0CRP, F5, MTR, MTHFR
29methionine438.9MTRR, SLC19A1, MTR, MTHFR, CBS
30dermatan sulfate438.9F2, ELN, F5
31vitamin b6438.8F5, CRP, MTR, MTHFR, CBS
32polyethylene glycol438.8F5, ELN, F2, CRP
335-methyltetrahydrofolate43 129.7SLC19A1, MTR, MTRR, MTHFR, CBS, F5
34aspirin43 49 28 2411.6F2, MTHFR, CRP, F5
35heparin43 28 24 1211.6MTHFR, F2, ELN, FBN1, F5
36cystathionine438.6F5, MTR, MTRR, MTHFR, CBS, FBN1
37ascorbic acid43 249.4MTHFR, ELN, FBN1, F5, CRP
38cobalamin43 249.3MMACHC, CRP, MTR, MTRR, MTHFR, CBS
39estrogen438.3F2, ELN, MTR, F5, MTHFR, FBN1
40creatinine438.2F5, CRP, MTR, MTHFR, ELN, F2
41fibrinogen438.2CRP, CBS, ELN, MTHFR, F5, F2
42cysteine438.1MTHFR, CBS, ELN, MTR, F5, SLC19A1
43vitamin b12438.0F5, MTRR, MMACHC, MTR, CRP, MTHFR
44folate437.8F5, SLC19A1, MTRR, MTR, MTHFR, CBS
45aspartate437.8F2, MTHFR, CRP, F5, MTR, MTRR
46methotrexate49 43 129.7F2, CBS, MTHFR, SLC19A1, MTRR, MTR
47glutamate437.7MTHFR, MTRR, MTR, F5, SLC19A1, ELN
48serine437.1FBN1, F5, SLC19A1, F2, MTR, MTRR
49alanine436.9CRP, MTHFR, F5, MTRR, ELN, SLC19A1
50homocysteine43 247.7FBN1, F2, SLC19A1, F5, CRP, MTR

GO Terms for genes affiliated with Homocysteinemia

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055767.8F5, CRP, ELN, FBN1, F2

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:005066710.0MTHFR, CBS
2response to folic acidGO:00515939.9CBS, MTHFR
3methionine biosynthetic processGO:00090869.9MTRR, MTHFR
4methylationGO:00322599.7MTR, MTRR
5blood circulationGO:00080159.7ELN, MTHFR, F5
6sulfur amino acid metabolic processGO:00000969.6MTR, MTRR, CBS
7cobalamin metabolic processGO:00092359.5MTR, MTRR, MMACHC
8blood vessel remodelingGO:00019749.5ELN, CBS
9folic acid metabolic processGO:00466559.5MTHFR, MTRR, SLC19A1
10cellular nitrogen compound metabolic processGO:00346419.3CBS, MTRR, MTR
11acute-phase responseGO:00069539.1CRP, F2
12water-soluble vitamin metabolic processGO:00067678.8SLC19A1, MTR, MTRR, MTHFR, MMACHC
13vitamin metabolic processGO:00067668.8MMACHC, MTHFR, MTRR, MTR, SLC19A1
14small molecule metabolic processGO:00442818.4MMACHC, CBS, MTHFR, MTRR, MTR, SLC19A1

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

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:00723419.9MTHFR, CBS
2cobalamin bindingGO:00314199.7MTR, MMACHC
3extracellular matrix structural constituentGO:00052019.5ELN, FBN1
4NADP bindingGO:00506619.4MTRR, MTHFR

Products for genes affiliated with Homocysteinemia

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Sources for Homocysteinemia

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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