MCID: HMC014
MIFTS: 48

Homocysteinemia malady

Rare diseases category

Summaries for Homocysteinemia

About this section
Sources:
66Wikipedia, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
Wikipedia:66 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

About this section
Sources:
63UMLS, 44NIH Rare Diseases, 23GTR, 46Novoseek
See all sources

Classifications:

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


Aliases & Descriptions:

homocysteinemia 44 23 46
hyperhomocysteinemia 63


Related Diseases for Homocysteinemia

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Homocysteinemia

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Homocysteinemia

Drug clinical trials:

Search ClinicalTrials for Homocysteinemia

Search NIH Clinical Center for Homocysteinemia

Search CenterWatch for Homocysteinemia

Genetic Tests for Homocysteinemia

About this section
Sources:
23GTR
See all sources

Genetic tests related to Homocysteinemia:

id Genetic test Affiliating Genes
1 Homocysteinemia23

Anatomical Context for Homocysteinemia

About this section
Sources:
34MalaCards
See all sources

MalaCards organs/tissues related to Homocysteinemia:

34
Endothelial, Heart, Smooth muscle, Liver, Lung, Ovary

Animal Models for Homocysteinemia or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Homocysteinemia:

38
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

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Homocysteinemia

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 55R&D Systems, 31KEGG, 52PharmGKB, 61Thomson Reuters
See all sources

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 degradation39
9.9CBS, MTR
3
Show member pathways
Vitamin B12 Metabolism39
9.7MTRR, MTHFR
4
Show member pathways
9.6F2, F5
5
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
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 biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.4CBS, MTR, MTRR
10
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.1CBS, MTHFR, MTRR, MTR
118.5SLC19A1, MMACHC, MTHFR, MTRR, MTR
12
Show member pathways
flavin biosynthesis IV (mammalian)39
molybdenum cofactor biosynthesis39
coenzyme A biosynthesis39
thiamin salvage III39
alanine biosynthesis III39
thio-molybdenum cofactor biosynthesis39
biotin-carboxyl carrier protein assembly39
8.5SLC19A1, MTR, MTRR, MTHFR, MMACHC
13
Show member pathways
thioredoxin pathway39
8.2CBS, MTHFR, CRP, MTR, F2
14
Show member pathways
8.2MMACHC, SLC19A1, CBS, MTHFR, MTRR, MTR

Compounds for genes affiliated with Homocysteinemia

About this section
Sources:
25HMDB, 46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR
See all sources

Compounds related to Homocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 134)
idCompoundScoreTop Affiliating Genes
15-Methyltetrahydrofolic acid2510.1MTHFR, MTR
2methyl-group4610.1MTHFR, MTR
3vitamin b-complex, plain5210.0MTHFR, MTRR
45,10-methenyltetrahydrofolate4610.0CBS, MTHFR, MTR
5Cob(I)alamin259.8MTRR, MTR
6cob(ii)alamin46 2510.8MTRR, MTR
710-formyltetrahydrofolate469.7SLC19A1, MTR, MTHFR
8inogatran469.6F5, F2
9pyridoxal 5-phosphate469.6CBS, MTHFR, MTR
10methylcobalamin46 2510.5CBS, MTHFR, MTRR, MTR
11b vitamins469.5CBS, MTHFR, MTRR, MTR
12folic acid52 25 1211.5SLC19A1, MTRR, MTHFR
13betaine46 2510.5CBS, MTHFR, MTRR, MTR
14methylmalonic acid46 2510.5MTR, MTRR, MTHFR, CBS
15s-adenosylhomocysteine46 2510.5CBS, MTHFR, MTRR, MTR
16cacl2469.5F5, ELN, FBN1
17cyanocobalamin52 25 1211.5MMACHC, MTHFR, MTRR, MTR
18hydroxocobalamin46 1210.4MMACHC, MTHFR, MTRR, MTR
19copper46 2510.4F5, MTR, ELN, CBS
20purine46 2510.4CBS, MTHFR, MTR, SLC19A1
21tetrahydrofolate469.3MTHFR, MTRR, MTR, SLC19A1
22dihydrofolate469.3MTHFR, MTR, SLC19A1
23sulfasalazine30 46 52 1212.0SLC19A1, CRP, MTHFR
24p00001469.0CRP, MTHFR, FBN1
25p002469.0CBS, MTHFR, CRP, F5
26thymidylate469.0CBS, MTHFR, MTRR, MTR, SLC19A1
27s-adenosylmethionine46 25 1211.0SLC19A1, MTR, MTRR, MTHFR, CBS
28cyclophosphamide46 52 1211.0MTHFR, MTR, CRP, F5
29methionine468.9CBS, MTHFR, MTRR, MTR, SLC19A1
30dermatan sulfate468.9F5, ELN, F2
31vitamin b6468.8CBS, MTHFR, MTR, CRP, F5
32polyethylene glycol468.8F5, CRP, ELN, F2
335-methyltetrahydrofolate46 129.7MTR, MTRR, MTHFR, CBS, F5, SLC19A1
34aspirin46 52 30 2511.6F2, MTHFR, CRP, F5
35heparin46 30 25 1211.6F2, FBN1, ELN, MTHFR, F5
36cystathionine468.6F5, MTR, MTRR, MTHFR, CBS, FBN1
37ascorbic acid46 259.4FBN1, ELN, MTHFR, CRP, F5
38cobalamin46 259.3MMACHC, CRP, MTR, MTRR, MTHFR, CBS
39estrogen468.3F2, FBN1, ELN, MTHFR, MTR, F5
40creatinine468.2F2, ELN, MTHFR, MTR, CRP, F5
41fibrinogen468.2F2, CBS, ELN, MTHFR, CRP, F5
42cysteine468.1FBN1, CBS, ELN, MTHFR, MTR, F5
43vitamin b12468.0MMACHC, CBS, MTHFR, MTRR, MTR, CRP
44folate467.8CBS, MTHFR, MTRR, MTR, CRP, F5
45aspartate467.8F2, ELN, MTHFR, MTRR, MTR, CRP
46methotrexate52 46 129.7F2, CBS, MTHFR, MTRR, MTR, CRP
47glutamate467.7FBN1, CBS, ELN, MTHFR, MTRR, MTR
48serine467.1F2, FBN1, CBS, ELN, MTHFR, MTRR
49alanine466.9F2, FBN1, ELN, MTHFR, MTRR, CRP
50homocysteine46 257.7SLC19A1, F5, CRP, MTR, MTRR, MTHFR

GO Terms for genes affiliated with Homocysteinemia

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Homocysteinemia

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet