MCID: HMC014
MIFTS: 49

Homocysteinemia

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Homocysteinemia

MalaCards integrated aliases for Homocysteinemia:

Name: Homocysteinemia 53 49 51 69
Hyperhomocysteinemia 53 12 72 28 51 41 14 69

Classifications:



External Ids:

OMIM 53 603174
Disease Ontology 12 DOID:9279
MeSH 41 D020138
NCIt 46 C84770
SNOMED-CT 64 419503008

Summaries for Homocysteinemia

OMIM : 53 Hyperhomocysteinemia refers to above-normal concentrations of plasma/serum homocysteine. Plasma/serum homocysteine is the sum of the thiol-containing amino acid homocysteine and the homocysteinyl moiety of the disulfides homocystine and cysteine-homocysteine, whether free or bound to proteins (Malinow and Stampfer, 1994). Hyperhomocysteinemia in isolation may be associated with an increased risk of atherosclerosis and recurrent arterial and venous thrombosis usually in the third or fourth decade of life (review by Welch and Loscalzo, 1998). Homocysteinemia is also a feature of several inherited metabolic disorders, including homocystinuria (236200), due to mutation in the CBS gene (613381), and N(5,10)-methylenetetrahydrofolate reductase deficiency (236250), caused by mutation in the MTHFR gene (607093). Homocysteinemia/homocystinuria and megaloblastic anemia can result from defects in vitamin B12 (cobalamin; cbl) metabolism, which have been classified according to complementation groups of cells in vitro; see cblE (236270) and cblG (250940). See also the various forms of combined methylmalonic aciduria (MMA) and homocystinuria due to disorders of cobalamin: cblC (277400), cblD (277410), and cblF (277380). (603174)

MalaCards based summary : Homocysteinemia, also known as hyperhomocysteinemia, is related to homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity and homocystinuria. An important gene associated with Homocysteinemia is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism and Response to elevated platelet cytosolic Ca2+. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and lung, and related phenotypes are homeostasis/metabolism and growth/size/body region

Disease Ontology : 12 An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood.

Wikipedia : 72 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

Related Diseases for Homocysteinemia

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

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 33.2 MTHFR MTR
2 homocystinuria 31.4 CBS F5 MMACHC MTHFR MTR MTRR
3 methylmalonic aciduria, cblb type 30.2 MMACHC MTHFR MTR MTRR
4 lens subluxation 30.0 CBS MTHFR
5 ischemic heart disease 29.7 CRP MTHFR NOS3
6 thrombosis 29.6 F2 F5 MTHFR SERPINC1 SERPINE1
7 thrombophilia due to thrombin defect 29.1 F2 F5 MTHFR SERPINC1 SERPINE1
8 coronary artery anomaly 29.1 CRP MTHFR NOS3 SERPINE1
9 endocarditis 28.9 ALB CRP F2 SERPINC1
10 cerebrovascular disease 28.8 CBS CRP F2 F5 MTHFR MTR
11 heart disease 28.2 ALB CRP F2 MTHFR NOS3 SERPINC1
12 stroke, ischemic 28.1 CRP F2 F5 MTHFR NOS3 SERPINC1
13 vascular disease 27.9 BHMT CBS CRP F5 MTHFR MTR
14 arteries, anomalies of 27.5 ALB CRP F2 MTHFR NOS3 SERPINC1
15 myocardial infarction 27.0 ALB CBS CRP F2 F5 MTHFR
16 methylmalonic acidemia and homocysteinemia, cblx type 12.3
17 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.2
18 methylmalonic aciduria and homocystinuria type cble 10.6 MTR MTRR
19 methylmalonic aciduria and homocystinuria type cblg 10.6 MTR MTRR
20 methotrexate toxicity or dose selection 10.6 MTHFR SLC19A1
21 nondisjunction 10.5 MTHFR MTRR
22 paracetamol poisoning 10.5 F2 F5
23 pregnancy loss, recurrent 1 10.5 F5 MTHFR
24 acquired angioedema 10.5 CRP F5
25 mastoiditis 10.5 CRP MTHFR
26 mesenteric vascular occlusion 10.5 F2 MTHFR
27 malignant otitis externa 10.5 CRP F2
28 cerebral sinovenous thrombosis 10.5 F2 F5
29 neural tube defects, folate-sensitive 10.4 MTHFR MTR MTRR
30 transcobalamin ii deficiency 10.4 MTHFR MTR MTRR
31 hemoglobin e disease 10.4 F2 F5
32 mediastinitis 10.4 CRP F5
33 porencephaly 10.4 F2 F5 MTHFR
34 anencephaly 10.4 MTHFR MTR MTRR
35 colorectal adenoma 10.4 CRP MTHFR MTR
36 megaloblastic anemia 10.4 MTHFR MTR MTRR
37 intestinal impaction 10.4 F2 SERPINC1
38 thrombasthenia 10.4 F2 F5 MTHFR
39 testicular infarct 10.4 CRP MTHFR
40 ischemic neuropathy 10.4 CRP F2 MTHFR
41 neonatal stroke 10.3 MTHFR SERPINE1
42 intracranial thrombosis 10.3 F5 MTHFR SERPINC1
43 methylmalonic aciduria and homocystinuria, cblc type 10.3 CBS MMACHC MTR
44 leech infestation 10.3 F2 SERPINC1
45 cerebral palsy 10.3 F2 F5 MTHFR
46 alpha-2-plasmin inhibitor deficiency 10.3 F2 SERPINC1
47 placenta disease 10.3 F5 MTHFR SERPINC1
48 giant hemangioma 10.3 F2 SERPINC1
49 glycine n-methyltransferase deficiency 10.3 CBS MTHFR
50 blood protein disease 10.3 F2 MTHFR SERPINC1

Graphical network of the top 20 diseases related to Homocysteinemia:



Diseases related to Homocysteinemia

Symptoms & Phenotypes for Homocysteinemia

Clinical features from OMIM:

603174

MGI Mouse Phenotypes related to Homocysteinemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.1 ALB BHMT CRP CTH F2 F5
2 growth/size/body region MP:0005378 10.02 SLC19A1 BHMT CTH F2 F5 MMACHC
3 liver/biliary system MP:0005370 9.76 ALB BHMT CTH F5 NOS3 SERPINC1
4 mortality/aging MP:0010768 9.73 AHCY ALB CTH F2 F5 MMACHC
5 renal/urinary system MP:0005367 9.23 BHMT CTH MMACHC NOS3 SERPINC1 SERPINE1

Drugs & Therapeutics for Homocysteinemia

Drugs for Homocysteinemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 5460373 44475014 11953898
2
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
3
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
4
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
5
Methylcobalamin Approved, Experimental, Investigational, Nutraceutical Phase 3 13422-55-4
6
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
7
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
8 Vitamin B 12 Phase 3
9 Vitamin B 6 Phase 3
10 Vitamin B Complex Phase 3
11 Vitamins Phase 3
12
Cobalamin Nutraceutical Phase 3 13408-78-1 6438156
13 Folate Nutraceutical Phase 3
14 Vitamin B12 Nutraceutical Phase 3
15 Vitamin B9 Nutraceutical Phase 3
16 Micronutrients
17 Trace Elements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Homocysteine Study (HOST) Completed NCT00032435 Phase 3 PAL-40 Active;PAL-40 Placebo
2 Effect of Cerefolin®/CerefolinNAC® on Biomarker Measurements Completed NCT01745198
3 Study of Factors Influencing Post-stroke Dementia Recruiting NCT01330160

Search NIH Clinical Center for Homocysteinemia

Cochrane evidence based reviews: hyperhomocysteinemia

Genetic Tests for Homocysteinemia

Genetic tests related to Homocysteinemia:

# Genetic test Affiliating Genes
1 Hyperhomocysteinemia 28

Anatomical Context for Homocysteinemia

MalaCards organs/tissues related to Homocysteinemia:

38
Heart, Endothelial, Lung, Liver, Testes, Ovary, Smooth Muscle

Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 116)
# Title Authors Year
1
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )
2017
2
The effect of levodopa benserazide hydrochloride on homocysteinemia levels in patients with Parkinson's disease and treatment of hyperhomocysteinemia. ( 27338068 )
2016
3
Homocysteinemia and early outcome of acute ischemic stroke in elderly patients. ( 27096104 )
2016
4
Homocysteinemia: A rare cause of priapism. ( 26834419 )
2016
5
Homocysteinemia is Associated with a Lower Degree of PBMC LINE-1 Methylation and a Higher Risk of CIN 2C in the U.S. Post-Folic Acid Fortification Era. ( 27008272 )
2016
6
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. ( 27046515 )
2016
7
Homocysteinemia control by cysteine in cerebral vascular patients after methionine loading test: evidences in physiological and pathological conditions in cerebro-vascular and multiple sclerosis patients. ( 26969256 )
2016
8
Homocysteinemia After Hypertensive Pregnancy Disorders at Term. ( 26070038 )
2015
9
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. ( 26563984 )
2015
10
Comparison of homocysteinemia and MTHFR 677CT polymorphism with Framingham Coronary Heart Risk Score. ( 24793554 )
2014
11
Uricemia and homocysteinemia: nontraditional risk factors in the early stages of chronic kidney disease--preliminary data. ( 24763881 )
2014
12
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
13
Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population. ( 23641747 )
2013
14
Effect of the MTHFR 677C/T polymorphism on homocysteinemia in response to creatine supplementation: a case study. ( 23869894 )
2013
15
Inflammatory status in chronic renal failure: The role of homocysteinemia and pro-inflammatory cytokines. ( 24175263 )
2013
16
Preventive effects of Lentinus edodes on homocysteinemia in mice. ( 24137209 )
2013
17
Increased homocysteinemia is associated with beneficial effects on body weight after long-term high-protein, low-fat diet in rats. ( 22554959 )
2012
18
Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients. ( 22925702 )
2012
19
The contribution of portal drained viscera to circadian homocysteinemia in pigs. ( 23365285 )
2012
20
Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake. ( 23014492 )
2012
21
Factor V Leiden, prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and homocysteinemia in Tunisian blood donors. ( 22628232 )
2012
22
Homocysteinemia and B vitamin status among adult patients with inflammatory bowel disease: a one-year prospective follow-up study. ( 21604334 )
2012
23
Subclavian steal syndrome secondary to subclavian artery thrombosis in a patient with homocysteinemia and its successful treatment. ( 23866465 )
2012
24
Hyper-homocysteinemia: a novel risk factor or a powerful marker for cardiovascular diseases? Pathogenetic and therapeutical uncertainties. ( 21234645 )
2011
25
Relation of homocysteinemia to contrast-induced nephropathy in patients undergoing percutaneous coronary intervention. ( 21791335 )
2011
26
Homocysteinemia-associated anetoderma, in a young woman with anorexia nervosa history. ( 21342168 )
2011
27
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis. ( 21560828 )
2011
28
Methionine-induced homocysteinemia impairs endothelial function in hypertensives: the role of asymmetrical dimethylarginine and antioxidant vitamins. ( 21490695 )
2011
29
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
30
[Homocysteinemia in polycystic ovary syndrome women]. ( 20512259 )
2010
31
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
32
Frequency of afterload homocysteinemia in normal population of Southern Iran: a pilot study. ( 20836293 )
2010
33
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( 20537649 )
2010
34
The activation of endothelin-1 pathway during methionine-induced homocysteinemia mediates endothelial dysfunction in hypertensive individuals. ( 20160653 )
2010
35
Moderate or supranormal folic acid supplementation does not exert a protective effect for homocysteinemia and methylation markers in growing rats. ( 20134159 )
2010
36
Severe In vivo hyper-homocysteinemia is not associatedwith elevation of amyloid-beta peptides in the Tg2576 mice. ( 20555139 )
2010
37
The metabolic syndrome is not associated with homocysteinemia: the Persian Gulf Healthy Heart Study. ( 19794288 )
2009
38
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. ( 19573432 )
2009
39
Association of homocysteinemia with high concentrations of serum insulin and uric acid in Brazilian subjects with metabolic syndrome genotyped for C677T polymorphism in the methylenetetrahydrofolate reductase gene. ( 19083485 )
2008
40
Differential associations between lipid-lowering drugs, statins and fibrates, and venous thromboembolism: role of drug induced homocysteinemia? ( 18048086 )
2008
41
Serum paraoxonase 1 activities and homocysteinemia in hemodialysis patients. ( 18601616 )
2008
42
A possible new risk factor in diabetic patients with erectile dysfunction: homocysteinemia. ( 18413215 )
2008
43
Homocysteinemia in hypertensive patients with renal target organ damage (mild renal dysfunction). ( 18559300 )
2008
44
Homocysteinemia correlates with plasma thiol redox status in patients with end-stage renal disease. ( 18212512 )
2008
45
Impaired spatial memory in APP-overexpressing mice on a homocysteinemia-inducing diet. ( 16837103 )
2007
46
Association between homocysteinemia and metabolic syndrome in patients with cardiovascular disease. ( 18516267 )
2007
47
Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients. ( 17561949 )
2007
48
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. ( 17449548 )
2007
49
Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment. ( 17481664 )
2007
50
Homocysteinemia as an independent risk factor in the Chinese population at a high risk of coronary artery disease. ( 17659928 )
2007

Variations for Homocysteinemia

Expression for Homocysteinemia

Search GEO for disease gene expression data for Homocysteinemia.

Pathways for Homocysteinemia

Pathways related to Homocysteinemia according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.87 AHCY ALB BHMT CBS CTH MMACHC
2
Show member pathways
13.11 ALB F2 F5 NOS3 SERPINC1 SERPINE1
3
Show member pathways
12.41 MMACHC MTHFR MTR MTRR SLC19A1
4
Show member pathways
12.1 CBS CTH MTHFR MTR
5
Show member pathways
11.87 F2 F5 SERPINC1 SERPINE1
6 11.77 F2 F5 SERPINC1 SERPINE1
7
Show member pathways
11.72 AHCY BHMT CBS CTH MTR MTRR
8
Show member pathways
11.7 AHCY ALB CBS CRP CTH F2
9
Show member pathways
11.69 MMACHC MTR MTRR
10 11.66 BHMT CBS CTH
11
Show member pathways
11.65 AHCY BHMT CBS CTH MTHFR MTR
12
Show member pathways
11.32 BHMT CBS CTH
13 10.78 CTH MTR
14 10.78 MMACHC MTR MTRR
15
Show member pathways
10.46 CBS MTHFR
16
Show member pathways
10.23 MTR MTRR

GO Terms for Homocysteinemia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 9.26 ALB F2 F5 SERPINC1
2 platelet alpha granule lumen GO:0031093 8.8 ALB F5 SERPINE1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.87 ALB F2 F5 SERPINC1
2 methylation GO:0032259 9.86 AHCY BHMT MTR MTRR
3 platelet degranulation GO:0002576 9.77 ALB F5 SERPINE1
4 hemostasis GO:0007599 9.69 F2 F5 SERPINC1
5 fibrinolysis GO:0042730 9.61 F2 SERPINE1
6 positive regulation of blood coagulation GO:0030194 9.59 F2 SERPINE1
7 negative regulation of fibrinolysis GO:0051918 9.58 F2 SERPINE1
8 negative regulation of platelet activation GO:0010544 9.58 F2 NOS3
9 methionine metabolic process GO:0006555 9.55 MTHFR MTRR
10 S-adenosylmethionine metabolic process GO:0046500 9.54 BHMT MTHFR
11 homocysteine metabolic process GO:0050667 9.52 CBS MTHFR
12 cobalamin metabolic process GO:0009235 9.5 MMACHC MTR MTRR
13 transsulfuration GO:0019346 9.49 CBS CTH
14 cysteine biosynthetic process GO:0019344 9.48 CBS CTH
15 S-adenosylmethionine cycle GO:0033353 9.46 AHCY MTRR
16 homocysteine catabolic process GO:0043418 9.43 CBS MTRR
17 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR SLC19A1
18 hydrogen sulfide biosynthetic process GO:0070814 9.4 CBS CTH
19 cysteine biosynthetic process via cystathionine GO:0019343 9.37 CBS CTH
20 methionine biosynthetic process GO:0009086 9.33 BHMT MTR MTRR
21 cellular amino acid biosynthetic process GO:0008652 9.26 CBS CTH MTR MTRR
22 sulfur amino acid metabolic process GO:0000096 8.92 AHCY BHMT MTR MTRR
23 oxidation-reduction process GO:0055114 10 CBS MMACHC MTHFR MTRR NOS3

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.88 AHCY ALB CBS CRP CTH SERPINC1
2 flavin adenine dinucleotide binding GO:0050660 9.5 MTHFR MTRR NOS3
3 FAD binding GO:0071949 9.46 MMACHC MTRR
4 FMN binding GO:0010181 9.43 MTRR NOS3
5 cobalamin binding GO:0031419 9.37 MMACHC MTR
6 modified amino acid binding GO:0072341 9.26 CBS MTHFR
7 NADPH-hemoprotein reductase activity GO:0003958 9.16 MTRR NOS3
8 pyridoxal phosphate binding GO:0030170 9.13 ALB CBS CTH
9 NADP binding GO:0050661 8.8 MTHFR MTRR NOS3

Sources for Homocysteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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