MCID: HMC014
MIFTS: 49

Homocysteinemia malady

Rare diseases category
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Summaries for Homocysteinemia

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Wikipedia:65 Homocysteine /?ho?mo??s?sti?n/ is a non-protein ?-amino acid. It is a homologue of the amino acid... more...

MalaCards based summary: 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 heart, endothelial and smooth muscle, and related mouse phenotypes are reproductive system and integument.

Aliases & Classifications for Homocysteinemia

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Sources:
62UMLS, 42NIH Rare Diseases, 22GTR, 44Novoseek
See all sources

Homocysteinemia, Aliases & Descriptions:

Name: Homocysteinemia 42 22 44
 
Hyperhomocysteinemia 62


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/GeneDecks 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, CBS, MTHFR
5vitamin b12 deficiency30.5MTHFR, MTR
6methylmalonic acidemia30.4MMACHC, MTR
7hypertension30.0CRP, F5, MTHFR, F2
8myocardial infarction29.8CBS, MTHFR, MTR, CRP, F5
9thromboembolism29.8F2, MTHFR, CBS, MTR, F5
10venous thrombosis29.8F2, CBS, MTHFR, F5, MTR
11hypercholesterolemia29.8FBN1, CBS, CRP
12down syndrome29.7CBS, MTHFR, MTRR, MTR, SLC19A1
13homocystinuria29.6MMACHC, FBN1, MTHFR, MTRR, MTR, F5
14systemic lupus erythematosus29.5F2, CRP, FBN1
15atherosclerosis29.2CBS, CRP, MTHFR, ELN, MTR, FBN1
16hyperhomocysteinemia28.0MTHFR, F2, FBN1, CBS, ELN, SLC19A1
17riboflavin deficiency10.5MTHFR
18branch retinal artery occlusion10.5F5
19eclampsia10.5MTHFR
20factor xii deficiency10.5F5
21lens subluxation10.4FBN1
22central retinal vein occlusion10.4MTHFR, F5
23peripheral vascular disease10.4MTHFR, CBS
24placental abruption10.4F5, MTHFR
25hepatic vein thrombosis10.4F5, MTHFR
26myelomeningocele10.4MTHFR, CBS
27retinal vein occlusion10.4F5, MTHFR
28intracranial thrombosis10.4MTHFR, F5
29aortic disease10.4FBN1
30hellp syndrome10.3F5, MTHFR
31neural tube defects, folate-sensitive10.3MTRR, MTR
32mediastinitis10.3CRP
33endotheliitis10.3
34stroke, ischemic10.3F5, MTHFR
35prothrombin deficiency10.3F2, F5
36factor x deficiency10.3F5, F2
37factor v deficiency10.3F5, F2
38factor xi deficiency10.3F2, F5
39dysfibrinogenemia10.3F2, F5
40isolated ectopia lentis10.3CBS, FBN1
41hemorrhagic disease10.3F2, F5
42scott syndrome10.3F2, F5
43cerebritis10.3
44factor vii deficiency10.3F2, F5
45von willebrand's disease10.2F2, F5
46thoracic aortic aneurysm10.2FBN1, ELN
47supravalvular aortic stenosis10.2ELN, FBN1
48afibrinogenemia10.2F5, F2
49exfoliation syndrome10.2ELN, FBN1
50factor viii deficiency10.2F2, 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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Drug clinical trials:

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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:

32
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:

36
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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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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Pathways related to Homocysteinemia according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9CBS, MTHFR
2
Show member pathways
cysteine biosynthesis/homocysteine degradation37
9.9MTR, CBS
3
Show member pathways
Vitamin B12 Metabolism37
9.7MTRR, MTHFR
4
Show member pathways
9.6F5, F2
5
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.6MTR, MTHFR, CBS
69.5SLC19A1, MMACHC
7
Show member pathways
9.5ELN, FBN1
8
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
9.4CBS, MTRR, MTR
9
Show member pathways
9.4MTR, MTRR, CBS
10
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
9.1CBS, MTHFR, MTRR, MTR
11
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
8.5SLC19A1, MTR, MTRR, MTHFR, MMACHC
128.5MMACHC, MTHFR, MTRR, MTR, SLC19A1
13
Show member pathways
thioredoxin pathway37
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, 44Novoseek, 50PharmGKB, 11DrugBank, 28IUPHAR
See all sources

Compounds related to Homocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
15-Methyltetrahydrofolic acid2410.1MTHFR, MTR
2methyl-group4410.1MTR, MTHFR
35,10-methenyltetrahydrofolate4410.0MTR, MTHFR, CBS
4vitamin b-complex, plain509.9MTRR, MTHFR
5Cob(I)alamin249.8MTRR, MTR
6cob(ii)alamin44 2410.8MTRR, MTR
710-formyltetrahydrofolate449.7SLC19A1, MTR, MTHFR
8inogatran449.6F5, F2
9pyridoxal 5-phosphate449.6MTR, MTHFR, CBS
10b vitamins449.5MTR, MTRR, CBS, MTHFR
11methylcobalamin44 2410.5MTR, MTRR, MTHFR, CBS
12folic acid50 24 1111.5MTRR, MTHFR, SLC19A1
13betaine44 2410.5MTHFR, MTRR, MTR, CBS
14methylmalonic acid44 2410.5CBS, MTHFR, MTRR, MTR
15s-adenosylhomocysteine44 2410.5CBS, MTRR, MTHFR, MTR
16cacl2449.5FBN1, ELN, F5
17cyanocobalamin50 24 1111.5MMACHC, MTHFR, MTRR, MTR
18hydroxocobalamin44 1110.4MMACHC, MTR, MTHFR, MTRR
19copper44 2410.4CBS, ELN, MTR, F5
20purine44 2410.4SLC19A1, MTHFR, CBS, MTR
21tetrahydrofolate449.3MTRR, SLC19A1, MTR, MTHFR
22dihydrofolate449.3MTR, SLC19A1, MTHFR
23sulfasalazine28 44 50 1112.0MTHFR, CRP, SLC19A1
24p00001449.0CRP, FBN1, MTHFR
25p002449.0CBS, MTHFR, F5, CRP
26thymidylate449.0MTR, MTHFR, CBS, SLC19A1, MTRR
27s-adenosylmethionine44 24 1111.0SLC19A1, CBS, MTHFR, MTRR, MTR
28cyclophosphamide44 50 1111.0CRP, F5, MTR, MTHFR
29methionine448.9MTRR, SLC19A1, MTR, MTHFR, CBS
30dermatan sulfate448.9F2, ELN, F5
31vitamin b6448.8F5, CRP, MTR, MTHFR, CBS
32polyethylene glycol448.8F5, ELN, F2, CRP
335-methyltetrahydrofolate44 119.7SLC19A1, MTR, MTRR, MTHFR, CBS, F5
34aspirin44 50 28 2411.6F2, MTHFR, CRP, F5
35heparin44 28 24 1111.6MTHFR, F2, ELN, FBN1, F5
36cystathionine448.6F5, MTR, MTRR, MTHFR, CBS, FBN1
37ascorbic acid44 249.4MTHFR, ELN, FBN1, F5, CRP
38cobalamin44 249.3MMACHC, CRP, MTR, MTRR, MTHFR, CBS
39estrogen448.3F2, ELN, MTR, F5, MTHFR, FBN1
40creatinine448.2F5, CRP, MTR, MTHFR, ELN, F2
41fibrinogen448.2CRP, CBS, ELN, MTHFR, F5, F2
42cysteine448.1MTHFR, CBS, ELN, MTR, F5, SLC19A1
43vitamin b12448.0F5, MTRR, MMACHC, MTR, CRP, MTHFR
44folate447.8F5, SLC19A1, MTRR, MTR, MTHFR, CBS
45aspartate447.8F2, MTHFR, CRP, F5, MTR, MTRR
46methotrexate50 44 119.7F2, CBS, MTHFR, SLC19A1, MTRR, MTR
47glutamate447.7MTHFR, MTRR, MTR, F5, SLC19A1, ELN
48serine447.1FBN1, F5, SLC19A1, F2, MTR, MTRR
49alanine446.9CRP, MTHFR, F5, MTRR, ELN, SLC19A1
50homocysteine44 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/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

Sources for Homocysteinemia

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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