MCID: HMC014
MIFTS: 48

Homocysteinemia malady

Rare diseases category
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Summaries for Homocysteinemia

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65Wikipedia, 33MalaCards
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Wikipedia:65 Homocysteine [IPA: ?h??m???s?sti?n] is a non-protein ?-amino acid. It is a homologue of the amino acid... more...

MalaCards: Homocysteinemia, also known as hyperhomocysteinemia, 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 endothelial, heart and smooth muscle, and related mouse phenotypes are reproductive system and integument.

Aliases & Classifications for Homocysteinemia

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Sources:
62UMLS, 43NIH Rare Diseases, 22GTR, 45Novoseek
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Classifications:

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


Aliases & Descriptions:

homocysteinemia 43 22 45
hyperhomocysteinemia 62


Related Diseases for Homocysteinemia

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1homocysteinemia due to mthfr deficiency30.7MTHFR, MTR
2vascular disease30.6ELN, CBS
3arteriosclerosis30.5ELN, MTHFR
4cerebrovascular disease30.2MTR, MTHFR, CBS
5hypertension30.2F5, CRP, MTHFR, F2
6homocystinuria30.1FBN1, F5, MTR, MTRR, MTHFR, CBS
7myocardial infarction30.1F5, CRP, MTR, MTHFR, CBS
8vitamin b12 deficiency30.0MTHFR, MTR
9methylmalonic acidemia30.0MTR, MMACHC
10thromboembolism29.9F2, CBS, MTHFR, MTR, F5
11hypercholesterolemia29.9CRP, CBS, FBN1
12systemic lupus erythematosus29.8CRP, FBN1, F2
13coronary artery disease29.8FBN1, CBS, MTHFR, MTR, CRP
14atherosclerosis29.7FBN1, CBS, ELN, MTHFR, MTR, CRP
15hyperhomocysteinemia29.4F2, SLC19A1, F5, CRP, MTR, MTRR
16endotheliitis10.3
17cerebritis10.2
18riboflavin deficiency10.1MTHFR
19purpura fulminans10.1F5
20branch retinal artery occlusion10.1F5
21eclampsia10.1MTHFR
22factor xii deficiency10.1F5
23lens subluxation10.1FBN1
24central retinal vein occlusion10.1F5, MTHFR
25diabetes mellitus10.1
26hepatitis10.1
27schizophrenia10.1
28vasculitis10.1
29peripheral vascular disease10.1CBS, MTHFR
30placental abruption10.1MTHFR, F5
31hepatic vein thrombosis10.1MTHFR, F5
32myelomeningocele10.1CBS, MTHFR
33retinal vein occlusion10.1MTHFR, F5
34intracranial thrombosis10.1MTHFR, F5
35aortic disease10.1FBN1
36hellp syndrome10.1MTHFR, F5
37neural tube defects, folate-sensitive10.1MTRR, MTR
38mediastinitis10.1CRP
39stroke, ischemic10.1F5, MTHFR
40prothrombin deficiency10.1F5, F2
41factor x deficiency10.1F2, F5
42factor v deficiency10.1F2, F5
43factor xi deficiency10.1F2, F5
44ectopia lentis, familial10.1FBN1, CBS
45dysfibrinogenemia10.1F2, F5
46hemorrhagic disease10.1F2, F5
47von willebrand's disease10.1F2, F5
48thoracic aortic aneurysm10.1FBN1, ELN
49factor vii deficiency10.1F2, F5
50scott syndrome10.1F2, F5

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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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22GTR
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Genetic tests related to Homocysteinemia:

id Genetic test Affiliating Genes
1 Homocysteinemia22

Anatomical Context for Homocysteinemia

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33MalaCards
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MalaCards organs/tissues related to Homocysteinemia:

33
Endothelial, Heart, Smooth muscle, Liver, Lung, Ovary

Animal Models for Homocysteinemia or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Homocysteinemia:

37
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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Sources:
52PubMed
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Articles related to Homocysteinemia:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Preventive effects of Lentinus edodes on homocysteinemia in mice. (24137209)
2013
2
Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population. (23641747)
2013
3
Increased homocysteinemia is associated with beneficial effects on body weight after long-term high-protein, low-fat diet in rats. (22554959)
2012
4
The contribution of portal drained viscera to circadian homocysteinemia in pigs. (23365285)
2012
5
Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake. (23014492)
2012
6
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis. (21560828)
2011
7
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
8
Relation of homocysteinemia to contrast-induced nephropathy in patients undergoing percutaneous coronary intervention. (21791335)
2011
9
Hyper-homocysteinemia: a novel risk factor or a powerful marker for cardiovascular diseases? Pathogenetic and therapeutical uncertainties. (21234645)
2011
10
Homocysteinemia in polycystic ovary syndrome women]. (20512259)
2010
11
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
12
Severe In vivo hyper-homocysteinemia is not associatedwith elevation of amyloid-beta peptides in the Tg2576 mice. (20555139)
2010
13
Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. (19573432)
2009
14
The metabolic syndrome is not associated with homocysteinemia: the Persian Gulf Healthy Heart Study. (19794288)
2009
15
Homocysteinemia in hypertensive patients with renal target organ damage (mild renal dysfunction). (18559300)
2008
16
Differential associations between lipid-lowering drugs, statins and fibrates, and venous thromboembolism: role of drug induced homocysteinemia? (18048086)
2008
17
Serum paraoxonase 1 activities and homocysteinemia in hemodialysis patients. (18601616)
2008
18
Homocysteinemia as an independent risk factor in the Chinese population at a high risk of coronary artery disease. (17659928)
2007
19
Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment. (17481664)
2007
20
Influence of PON1 polymorphisms on the association between serum paraoxonase 1 and homocysteinemia in a general population. (16595840)
2006
21
Hyper-homocysteinemia is not a main feature of juvenile uncomplicated type 1 diabetes. (15725691)
2005
22
Inverse correlation between phenylacetate hydrolase activity of the serum PON1 protein and homocysteinemia in humans. (15630512)
2005
23
Impact of homocysteinemia on long-term renal transplant survival. (16182810)
2005
24
Folic acid and vitamin E supplementation effects on homocysteinemia, endothelial function and plasma antioxidant capacity in young myocardial-infarction patients. (14597156)
2004
25
The achievement of normal homocysteinemia in regular extracorporeal dialysis patients. (15365962)
2004
26
A case of ischemic cerebral infarction associated with acute posterior multifocal placoid pigment epitheliopathy, CNS vasculitis, vitamin B(12) deficiency and homocysteinemia. (15383766)
2004
27
Homocysteinemia in psychiatric disorders: association with dementia and depression, but not schizophrenia in female patients. (14666412)
2003
28
Homocysteinemia and ovariectomy--initial experience with functional monitoring]. (12661370)
2002
29
Homocysteinemia in the emergency department. (11014083)
2000
30
Genetic modulation of homocysteinemia. (11011843)
2000
31
Homocysteinemia, serum folate and vitamin B12 in very young patients with diabetes mellitus type 1. (11154158)
2000
32
Pulmonary thrombosis, homocysteinemia, and reperfusion edema in an adolescent. (10816282)
2000
33
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
34
Homocysteinemia: new information about an old risk factor for vascular disease. (10537928)
1998
35
Atherogenic diet alters folate enzymes in mice: implications of folate deficient homocysteinemia. (10410464)
1998
36
The role of hyper-homocysteinemia in the etiology of some vascular diseases]. (9769688)
1998
37
Homocysteinemia as a risk factor for atherosclerosis: a review. (9423939)
1997
38
Elevated high-density lipoprotein cholesterol, not protective in the presence of homocysteinemia. (9068544)
1997
39
Perspective: a mechanism underlying homocysteinemia and increased risk of coronary artery and cerebrovascular disease. (8941135)
1996
40
Carbon tetrachloride-induced hepatic injury is associated with global DNA hypomethylation and homocysteinemia: effect of S-adenosylmethionine treatment. (7557886)
1995
41
1H NMR determination of urinary betaine in patients with premature vascular disease and mild homocysteinemia. (7533065)
1995
42
Homocysteinemia and schizophrenia as a case of methylation deficiency. (7734111)
1994
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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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Homocysteinemia

Search GEO for disease gene expression data for Homocysteinemia.

Pathways for genes affiliated with Homocysteinemia

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 53QIAGEN, 54R&D Systems, 30KEGG, 51PharmGKB, 60Thomson Reuters
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Pathways related to Homocysteinemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9MTHFR, CBS
2
Show member pathways
cysteine biosynthesis/homocysteine degradation38
9.9CBS, MTR
3
Show member pathways
Vitamin B12 Metabolism38
9.7MTRR, MTHFR
4
Show member pathways
9.6F2, F5
5
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.6MTHFR, MTR, CBS
69.5SLC19A1, MMACHC
7
Show member pathways
9.5FBN1, ELN
8
Show member pathways
9.4CBS, MTRR, MTR
9
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.4CBS, MTR, MTRR
10
Show member pathways
One Carbon Metabolism38
dTMP de novo biosynthesis (mitochondrial)38
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate38
Trans-sulfuration and one carbon metabolism38
methionine salvage38
Methionine metabolism60
9.1CBS, MTHFR, MTRR, MTR
118.5SLC19A1, MMACHC, MTHFR, MTRR, MTR
12
Show member pathways
flavin biosynthesis IV (mammalian)38
molybdenum cofactor biosynthesis38
coenzyme A biosynthesis38
thiamin salvage III38
alanine biosynthesis III38
thio-molybdenum cofactor biosynthesis38
biotin-carboxyl carrier protein assembly38
8.5SLC19A1, MTR, MTRR, MTHFR, MMACHC
13
Show member pathways
thioredoxin pathway38
8.2CBS, MTHFR, CRP, MTR, F2
14
Show member pathways
8.2MMACHC, SLC19A1, CBS, MTHFR, MTRR, MTR

Compounds for genes affiliated with Homocysteinemia

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Sources:
24HMDB, 45Novoseek, 51PharmGKB, 11DrugBank, 29IUPHAR
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Compounds related to Homocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
15-Methyltetrahydrofolic acid2410.1MTHFR, MTR
2methyl-group4510.1MTHFR, MTR
3vitamin b-complex, plain5110.0MTHFR, MTRR
45,10-methenyltetrahydrofolate4510.0CBS, MTHFR, MTR
5Cob(I)alamin249.8MTRR, MTR
6cob(ii)alamin45 2410.8MTRR, MTR
710-formyltetrahydrofolate459.7SLC19A1, MTR, MTHFR
8inogatran459.6F5, F2
9pyridoxal 5-phosphate459.6CBS, MTHFR, MTR
10methylcobalamin45 2410.5CBS, MTHFR, MTRR, MTR
11b vitamins459.5CBS, MTHFR, MTRR, MTR
12folic acid51 24 1111.5SLC19A1, MTRR, MTHFR
13betaine45 2410.5CBS, MTHFR, MTRR, MTR
14methylmalonic acid45 2410.5MTR, MTRR, MTHFR, CBS
15s-adenosylhomocysteine45 2410.5CBS, MTHFR, MTRR, MTR
16cacl2459.5F5, ELN, FBN1
17cyanocobalamin51 24 1111.5MMACHC, MTHFR, MTRR, MTR
18hydroxocobalamin45 1110.4MMACHC, MTHFR, MTRR, MTR
19copper45 2410.4F5, MTR, ELN, CBS
20purine45 2410.4CBS, MTHFR, MTR, SLC19A1
21tetrahydrofolate459.3MTHFR, MTRR, MTR, SLC19A1
22dihydrofolate459.3MTHFR, MTR, SLC19A1
23sulfasalazine29 45 51 1112.0SLC19A1, CRP, MTHFR
24p00001459.0CRP, MTHFR, FBN1
25p002459.0CBS, MTHFR, CRP, F5
26thymidylate459.0CBS, MTHFR, MTRR, MTR, SLC19A1
27s-adenosylmethionine45 24 1111.0SLC19A1, MTR, MTRR, MTHFR, CBS
28cyclophosphamide45 51 1111.0MTHFR, MTR, CRP, F5
29methionine458.9CBS, MTHFR, MTRR, MTR, SLC19A1
30dermatan sulfate458.9F5, ELN, F2
31vitamin b6458.8CBS, MTHFR, MTR, CRP, F5
32polyethylene glycol458.8F5, CRP, ELN, F2
335-methyltetrahydrofolate45 119.7MTR, MTRR, MTHFR, CBS, F5, SLC19A1
34aspirin45 51 29 2411.6F2, MTHFR, CRP, F5
35heparin45 29 24 1111.6F2, FBN1, ELN, MTHFR, F5
36cystathionine458.6F5, MTR, MTRR, MTHFR, CBS, FBN1
37ascorbic acid45 249.4FBN1, ELN, MTHFR, CRP, F5
38cobalamin45 249.3MMACHC, CRP, MTR, MTRR, MTHFR, CBS
39estrogen458.3F2, FBN1, ELN, MTHFR, MTR, F5
40creatinine458.2F2, ELN, MTHFR, MTR, CRP, F5
41fibrinogen458.2F2, CBS, ELN, MTHFR, CRP, F5
42cysteine458.1FBN1, CBS, ELN, MTHFR, MTR, F5
43vitamin b12458.0MMACHC, CBS, MTHFR, MTRR, MTR, CRP
44folate457.8CBS, MTHFR, MTRR, MTR, CRP, F5
45aspartate457.8F2, ELN, MTHFR, MTRR, MTR, CRP
46methotrexate51 45 119.7F2, CBS, MTHFR, MTRR, MTR, CRP
47glutamate457.7FBN1, CBS, ELN, MTHFR, MTRR, MTR
48serine457.1F2, FBN1, CBS, ELN, MTHFR, MTRR
49alanine456.9F2, FBN1, ELN, MTHFR, MTRR, CRP
50homocysteine45 247.7SLC19A1, F5, CRP, MTR, MTRR, MTHFR

GO Terms for genes affiliated with Homocysteinemia

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Sources:
16Gene Ontology
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Cellular components related to Homocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055767.8F5, CRP, ELN, FBN1, F2

Biological processes related to Homocysteinemia according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:05066710.0MTHFR, CBS
2response to folic acidGO:0515939.9CBS, MTHFR
3methionine biosynthetic processGO:0090869.9MTRR, MTHFR
4methylationGO:0322599.7MTR, MTRR
5blood circulationGO:0080159.7ELN, MTHFR, F5
6sulfur amino acid metabolic processGO:0000969.6MTR, MTRR, CBS
7cobalamin metabolic processGO:0092359.5MTR, MTRR, MMACHC
8blood vessel remodelingGO:0019749.5ELN, CBS
9folic acid metabolic processGO:0466559.5MTHFR, MTRR, SLC19A1
10cellular nitrogen compound metabolic processGO:0346419.3CBS, MTRR, MTR
11acute-phase responseGO:0069539.1CRP, F2
12water-soluble vitamin metabolic processGO:0067678.8SLC19A1, MTR, MTRR, MTHFR, MMACHC
13vitamin metabolic processGO:0067668.8MMACHC, MTHFR, MTRR, MTR, SLC19A1
14small molecule metabolic processGO:0442818.4MMACHC, CBS, MTHFR, MTRR, MTR, SLC19A1

Molecular functions related to Homocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1modified amino acid bindingGO:0723419.9MTHFR, CBS
2cobalamin bindingGO:0314199.7MTR, MMACHC
3extracellular matrix structural constituentGO:0052019.5ELN, FBN1
4NADP bindingGO:0506619.4MTRR, MTHFR

Products for genes affiliated with Homocysteinemia

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  • Antibodies
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  • Lysates
  • Antibodies

Sources for Homocysteinemia

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet