Aliases & Classifications for Homocysteinemia

MalaCards integrated aliases for Homocysteinemia:

Name: Homocysteinemia 50 52 69

Classifications:



Summaries for Homocysteinemia

MalaCards based summary : Homocysteinemia is related to homocystinuria due to mthfr deficiency and homocystinuria. An important gene associated with Homocysteinemia is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Carbon metabolism. 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 integument

Related Diseases for Homocysteinemia

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

(show top 50) (show all 160)
id Related Disease Score Top Affiliating Genes
1 homocystinuria due to mthfr deficiency 32.2 CBS MTHFR MTR
2 homocystinuria 31.2 CBS MMACHC MTHFR MTR
3 priapism 28.5 CBS F5 MTHFR MTR MTRR
4 myocardial infarction 28.3 CBS CRP F2 F5 MTHFR
5 mental retardation, x-linked 3 11.7
6 multicentric osteolysis nephropathy 10.8 F5 MTHFR
7 coronary sinus stenosis 10.8 F5 MTHFR
8 amelogenesis imperfecta hypomaturation type 10.8 F5 MTHFR
9 congenital intrinsic factor deficiency 10.8 MTR MTRR
10 x-linked disease 10.8 MTR MTRR
11 pregnancy loss, recurrent 1 10.7 F5 MTHFR
12 serine deficiency 10.7 MTHFR MTR
13 factor v leiden thrombophilia 10.7 MTR MTRR
14 cavernous lymphangioma 10.7 F5 MTHFR
15 dental abscess 10.7 CRP MTHFR
16 femoral neuropathy 10.7 F5 MTHFR
17 acquired hemophilia 10.6 CRP F5
18 ovarian cystic teratoma 10.6 CRP MTHFR
19 myotonic cataract 10.6 CRP F5
20 porphyria 10.6 F2 MTHFR
21 variably protease-sensitive prionopathy 10.6 F2 F5
22 46,xy ovotesticular disorder of sex development 10.6 F2 F5
23 arcus senilis 10.6 CRP MTHFR
24 testicular gonadoblastoma 10.5 F2 F5
25 bile duct cystadenoma 10.5 F2 F5
26 islet cell tumor 10.5 CRP MTHFR
27 collagenous colitis 10.5 F2 F5
28 lymphatic system cancer 10.5 F2 MTHFR
29 neural tube defects, folate-sensitive 10.5 MTHFR MTR MTRR
30 chronic fungal otitis externa 10.5 CRP F2
31 agammaglobulinemia 2 10.5 MTHFR MTR MTRR
32 glutathioninuria 10.5 F2 F5
33 spermatogenic failure 14 10.5 CRP MTHFR
34 methylmalonic aciduria and homocystinuria type cblg 10.5 MTHFR MTR
35 carcinoma of esophagus, salivary gland type 10.5 MTHFR SLC19A1
36 elejalde disease 10.5 F2 MTHFR
37 synostosis 10.5 CRP F2
38 facioscapulohumeral muscular dystrophy 1 10.5 F2 F5
39 ehlers-danlos syndrome, type viic 10.5 MTHFR MTR MTRR
40 spinal cord lipoma 10.5 F2 MTHFR
41 calcaneonavicular coalition 10.5 MMACHC MTHFR MTR
42 vaginal glandular tumor 10.5 MTHFR MTR MTRR
43 midline cystocele 10.5 CRP F2
44 factor v deficiency 10.5 F2 F5
45 orbital disease 10.4 MTHFR MTR MTRR
46 elastoma 10.4 ELN FBN1
47 early-onset generalized limb-onset dystonia 10.4 ELN FBN1
48 familial or sporadic hemiplegic migraine 10.4 ELN FBN1
49 central retinal artery occlusion 10.4 F2 MTHFR
50 neuroaxonal dystrophy 10.4 F2 F5

Graphical network of the top 20 diseases related to Homocysteinemia:



Diseases related to Homocysteinemia

Symptoms & Phenotypes for Homocysteinemia

MGI Mouse Phenotypes related to Homocysteinemia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 CLU CRP F2 F5 FBN1 MMACHC
2 integument MP:0010771 9.1 F2 F5 FBN1 MMACHC MTHFR SLC19A1

Drugs & Therapeutics for Homocysteinemia

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

(show all 17)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 5460373 44475014
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
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
6
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
7 Vitamin B 12 Phase 3
8 Vitamin B 6 Phase 3
9 Vitamin B Complex Phase 3
10 Vitamins Phase 3
11
Cobalamin Nutraceutical Phase 3 13408-78-1 6438156
12 Folate Nutraceutical Phase 3
13
Methylcobalamin Experimental, Nutraceutical Phase 3 13422-55-4
14 Vitamin B12 Nutraceutical Phase 3
15 Vitamin B9 Nutraceutical Phase 3
16 Micronutrients
17 Trace Elements

Interventional clinical trials:


id 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

Genetic Tests for Homocysteinemia

Anatomical Context for Homocysteinemia

MalaCards organs/tissues related to Homocysteinemia:

39
Heart, Endothelial, Lung, Testes, Ovary, Liver, Smooth Muscle

Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 116)
id 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
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. ( 27046515 )
2016
3
Homocysteinemia: A rare cause of priapism. ( 26834419 )
2016
4
The effect of levodopa benserazide hydrochloride on homocysteinemia levels in patients with Parkinson's disease and treatment of hyperhomocysteinemia. ( 27338068 )
2016
5
Homocysteinemia and early outcome of acute ischemic stroke in elderly patients. ( 27096104 )
2016
6
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
7
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
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
Inflammatory status in chronic renal failure: The role of homocysteinemia and pro-inflammatory cytokines. ( 24175263 )
2013
14
Preventive effects of Lentinus edodes on homocysteinemia in mice. ( 24137209 )
2013
15
Effect of the MTHFR 677C/T polymorphism on homocysteinemia in response to creatine supplementation: a case study. ( 23869894 )
2013
16
Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population. ( 23641747 )
2013
17
Homocysteinemia and B vitamin status among adult patients with inflammatory bowel disease: a one-year prospective follow-up study. ( 21604334 )
2012
18
Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake. ( 23014492 )
2012
19
Increased homocysteinemia is associated with beneficial effects on body weight after long-term high-protein, low-fat diet in rats. ( 22554959 )
2012
20
Factor V Leiden, prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and homocysteinemia in Tunisian blood donors. ( 22628232 )
2012
21
The contribution of portal drained viscera to circadian homocysteinemia in pigs. ( 23365285 )
2012
22
Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients. ( 22925702 )
2012
23
Subclavian steal syndrome secondary to subclavian artery thrombosis in a patient with homocysteinemia and its successful treatment. ( 23866465 )
2012
24
Relation of homocysteinemia to contrast-induced nephropathy in patients undergoing percutaneous coronary intervention. ( 21791335 )
2011
25
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
26
Hyper-homocysteinemia: a novel risk factor or a powerful marker for cardiovascular diseases? Pathogenetic and therapeutical uncertainties. ( 21234645 )
2011
27
Methionine-induced homocysteinemia impairs endothelial function in hypertensives: the role of asymmetrical dimethylarginine and antioxidant vitamins. ( 21490695 )
2011
28
Homocysteinemia-associated anetoderma, in a young woman with anorexia nervosa history. ( 21342168 )
2011
29
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis. ( 21560828 )
2011
30
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( 20537649 )
2010
31
Severe In vivo hyper-homocysteinemia is not associatedwith elevation of amyloid-beta peptides in the Tg2576 mice. ( 20555139 )
2010
32
Frequency of afterload homocysteinemia in normal population of Southern Iran: a pilot study. ( 20836293 )
2010
33
[Homocysteinemia in polycystic ovary syndrome women]. ( 20512259 )
2010
34
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
35
Moderate or supranormal folic acid supplementation does not exert a protective effect for homocysteinemia and methylation markers in growing rats. ( 20134159 )
2010
36
The activation of endothelin-1 pathway during methionine-induced homocysteinemia mediates endothelial dysfunction in hypertensive individuals. ( 20160653 )
2010
37
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. ( 19573432 )
2009
38
The metabolic syndrome is not associated with homocysteinemia: the Persian Gulf Healthy Heart Study. ( 19794288 )
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
Serum paraoxonase 1 activities and homocysteinemia in hemodialysis patients. ( 18601616 )
2008
41
Homocysteinemia in hypertensive patients with renal target organ damage (mild renal dysfunction). ( 18559300 )
2008
42
A possible new risk factor in diabetic patients with erectile dysfunction: homocysteinemia. ( 18413215 )
2008
43
Differential associations between lipid-lowering drugs, statins and fibrates, and venous thromboembolism: role of drug induced homocysteinemia? ( 18048086 )
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
Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients. ( 17561949 )
2007
47
Homocysteinemia as an independent risk factor in the Chinese population at a high risk of coronary artery disease. ( 17659928 )
2007
48
Association between homocysteinemia and metabolic syndrome in patients with cardiovascular disease. ( 18516267 )
2007
49
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. ( 17449548 )
2007
50
Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment. ( 17481664 )
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 11)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 MMACHC MTHFR MTR MTRR SLC19A1
2
Show member pathways
11.99 CBS MTHFR MTR
3 11.75 CLU F2 F5
4
Show member pathways
11.67 CBS MTR MTRR
5
Show member pathways
11.53 MMACHC MTR MTRR
6
Show member pathways
11.41 CBS MTHFR MTR MTRR
7 10.97 MTHFR SLC19A1
8 10.84 MMACHC SLC19A1
9
Show member pathways
10.28 CBS MTHFR
10 10.14 MMACHC MTR MTRR
11
Show member pathways
10.03 MTR MTRR

GO Terms for Homocysteinemia

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

id Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.5 CBS MTR MTRR
2 acute-phase response GO:0006953 9.48 CRP F2
3 methionine biosynthetic process GO:0009086 9.46 MTR MTRR
4 sulfur amino acid metabolic process GO:0000096 9.43 MTR MTRR
5 blood circulation GO:0008015 9.43 ELN F5 MTHFR
6 methionine metabolic process GO:0006555 9.4 MTHFR MTRR
7 homocysteine metabolic process GO:0050667 9.37 CBS MTHFR
8 homocysteine catabolic process GO:0043418 9.16 CBS MTRR
9 cobalamin metabolic process GO:0009235 9.13 MMACHC MTR MTRR
10 folic acid metabolic process GO:0046655 8.8 MTHFR MTRR SLC19A1

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

id Name GO ID Score Top Affiliating Genes
1 NADP binding GO:0050661 9.32 MTHFR MTRR
2 FAD binding GO:0071949 9.26 MMACHC MTRR
3 low-density lipoprotein particle receptor binding GO:0050750 9.16 CLU CRP
4 cobalamin binding GO:0031419 8.96 MMACHC MTR
5 modified amino acid binding GO:0072341 8.62 CBS MTHFR

Sources for Homocysteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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