MCID: HMC014
MIFTS: 35

Homocysteinemia malady

Categories: Rare diseases

Aliases & Classifications for Homocysteinemia

Aliases & Descriptions for Homocysteinemia:

Name: Homocysteinemia 50 52 69

Classifications:



Summaries for Homocysteinemia

MalaCards based summary : Homocysteinemia is related to homocystinuria due to mthfr deficiency and myocardial infarction. 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 Pyridoxine have been mentioned in the context of this disorder. Affiliated tissues include heart, endothelial and testes, 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 142)
id Related Disease Score Top Affiliating Genes
1 homocystinuria due to mthfr deficiency 32.6 MTHFR MTR
2 myocardial infarction 29.1 CBS CRP F2 F5 MTHFR
3 mental retardation, x-linked 3 11.7
4 homocystinuria 11.3
5 multiple familial trichoepithelioma 10.3 F5 MTHFR
6 absence of innominate vein 10.3 F5 MTHFR
7 x-linked disease 10.3 MTR MTRR
8 autosomal dominant disease 10.3 MTR MTRR
9 aminoaciduria 10.3 F5 MTHFR
10 lung cancer 10.3 F5 MTHFR
11 cervical polyp 10.3 CRP MTHFR
12 cono-spondylar dysplasia 10.3 MTHFR SLC19A1
13 skeletal muscle regeneration 10.3 MTR MTRR
14 hypertrichosis 10.3 F5 MTHFR
15 acro coxo mesomelic dysplasia 10.3 CRP F5
16 deafness, autosomal recessive 45 10.2 MTHFR MTR MTRR
17 warburg micro syndrome 3 10.2 MTHFR MTR MTRR
18 central congenital hypothyroidism 10.2 F5 MTHFR
19 congenital insensitivity to pain with severe intellectual disability 10.2 F2 F5
20 scn8a-related epilepsy with encephalopathy 10.2 F2 MTHFR
21 parapharyngeal meningioma 10.2 CRP F5
22 agammaglobulinemia 2 10.2 MTHFR MTR MTRR
23 fallopian tube leiomyoma 10.2 CRP MTHFR
24 porphyria 10.2 F2 MTHFR
25 craniofaciofrontodigital syndrome 10.2 MTHFR MTR MTRR
26 spinal accessory nerve neoplasm 10.2 MTHFR SLC19A1
27 coenzyme q10 deficiency disease 10.2 MTHFR MTR
28 acute infection of pinna 10.2 CRP F2
29 vaginal glandular tumor 10.2 MTHFR MTR MTRR
30 hyperekplexia 2, autosomal recessive 10.2 MMACHC MTHFR MTR
31 mixed epithelial tumor of ovary 10.2 F2 MTHFR
32 pancreatic ductal carcinoma 10.2 F2 F5
33 oxyphilic adenoma 10.2 F2 F5
34 chronic ethmoiditis 10.2 MTHFR MTR MTRR
35 ezh2-related overgrowth 10.2 MMACHC MTR MTRR
36 hendra virus infection 10.2 F2 F5
37 linear focal dermal elastosis 10.2 ELN FBN1
38 citrulline transport defect 10.2 CRP F2
39 stroke, ischemic 10.2 F2 F5
40 acute sensory ataxic neuropathy 10.2 ELN FBN1
41 acute pure sensory neuropathy 10.2 ELN FBN1
42 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.2 ELN FBN1
43 lymphocytic colitis 10.2 F2 F5
44 synostosis 10.2 CRP F2
45 spinal cord lipoma 10.2 F2 MTHFR
46 vascular erectile tumor 10.1 F2 F5 MTHFR
47 lubinsky syndrome 10.1 F2 F5 MTHFR
48 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F2 F5 MTHFR
49 left-right axis malformations 10.1 F2 F5 MTHFR
50 photosensitive epilepsy 10.1 F2 F5 MTHFR

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
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
3
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
4
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
6
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
7 Vitamin B 12 Phase 3
8 Vitamin B 6 Phase 3
9 Vitamin B Complex Phase 3
10 Vitamins Phase 3
11 Folate Nutraceutical Phase 3
12 Vitamin B12 Nutraceutical Phase 3
13
Cobalamin Nutraceutical Phase 3 13408-78-1 6438156
14
Methylcobalamin Experimental, Nutraceutical Phase 3 13422-55-4
15 Vitamin B9 Nutraceutical Phase 3
16 Trace Elements
17 Micronutrients

Interventional clinical trials:


id Name Status NCT ID Phase
1 Homocysteine Study (HOST) Completed NCT00032435 Phase 3
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, Testes, Smooth Muscle, Liver, Kidney, Ovary

Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 115)
id Title Authors Year
1
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
2
The effect of levodopa benserazide hydrochloride on homocysteinemia levels in patients with Parkinson's disease and treatment of hyperhomocysteinemia. ( 27338068 )
2016
3
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
4
Homocysteinemia and early outcome of acute ischemic stroke in elderly patients. ( 27096104 )
2016
5
Homocysteinemia: A rare cause of priapism. ( 26834419 )
2016
6
Homocysteinemia due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. ( 27046515 )
2016
7
Homocysteinemia After Hypertensive Pregnancy Disorders at Term. ( 26070038 )
2015
8
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
9
Comparison of homocysteinemia and MTHFR 677CT polymorphism with Framingham Coronary Heart Risk Score. ( 24793554 )
2014
10
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
11
Uricemia and homocysteinemia: nontraditional risk factors in the early stages of chronic kidney disease--preliminary data. ( 24763881 )
2014
12
Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population. ( 23641747 )
2013
13
Effect of the MTHFR 677C/T polymorphism on homocysteinemia in response to creatine supplementation: a case study. ( 23869894 )
2013
14
Inflammatory status in chronic renal failure: The role of homocysteinemia and pro-inflammatory cytokines. ( 24175263 )
2013
15
Preventive effects of Lentinus edodes on homocysteinemia in mice. ( 24137209 )
2013
16
Factor V Leiden, prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and homocysteinemia in Tunisian blood donors. ( 22628232 )
2012
17
Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients. ( 22925702 )
2012
18
The contribution of portal drained viscera to circadian homocysteinemia in pigs. ( 23365285 )
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
Subclavian steal syndrome secondary to subclavian artery thrombosis in a patient with homocysteinemia and its successful treatment. ( 23866465 )
2012
21
Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake. ( 23014492 )
2012
22
Homocysteinemia and B vitamin status among adult patients with inflammatory bowel disease: a one-year prospective follow-up study. ( 21604334 )
2012
23
Methionine-induced homocysteinemia impairs endothelial function in hypertensives: the role of asymmetrical dimethylarginine and antioxidant vitamins. ( 21490695 )
2011
24
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
25
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis. ( 21560828 )
2011
26
Homocysteinemia-associated anetoderma, in a young woman with anorexia nervosa history. ( 21342168 )
2011
27
Relation of homocysteinemia to contrast-induced nephropathy in patients undergoing percutaneous coronary intervention. ( 21791335 )
2011
28
Hyper-homocysteinemia: a novel risk factor or a powerful marker for cardiovascular diseases? Pathogenetic and therapeutical uncertainties. ( 21234645 )
2011
29
Frequency of afterload homocysteinemia in normal population of Southern Iran: a pilot study. ( 20836293 )
2010
30
The activation of endothelin-1 pathway during methionine-induced homocysteinemia mediates endothelial dysfunction in hypertensive individuals. ( 20160653 )
2010
31
Moderate or supranormal folic acid supplementation does not exert a protective effect for homocysteinemia and methylation markers in growing rats. ( 20134159 )
2010
32
[Homocysteinemia in polycystic ovary syndrome women]. ( 20512259 )
2010
33
Severe In vivo hyper-homocysteinemia is not associatedwith elevation of amyloid-beta peptides in the Tg2576 mice. ( 20555139 )
2010
34
Cysteinemia, rather than homocysteinemia, is associated with plasma apolipoprotein A-I levels in hyperhomocysteinemia: lipid metabolism in cystathionine beta-synthase deficiency. ( 20537649 )
2010
35
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
36
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. ( 19573432 )
2009
37
The metabolic syndrome is not associated with homocysteinemia: the Persian Gulf Healthy Heart Study. ( 19794288 )
2009
38
Differential associations between lipid-lowering drugs, statins and fibrates, and venous thromboembolism: role of drug induced homocysteinemia? ( 18048086 )
2008
39
Homocysteinemia correlates with plasma thiol redox status in patients with end-stage renal disease. ( 18212512 )
2008
40
Serum paraoxonase 1 activities and homocysteinemia in hemodialysis patients. ( 18601616 )
2008
41
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
42
Homocysteinemia in hypertensive patients with renal target organ damage (mild renal dysfunction). ( 18559300 )
2008
43
A possible new risk factor in diabetic patients with erectile dysfunction: homocysteinemia. ( 18413215 )
2008
44
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. ( 17449548 )
2007
45
Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients. ( 17561949 )
2007
46
Homocysteinemia may be equally important to stroke subtype in predicting cognition impairment. ( 17481664 )
2007
47
Association between homocysteinemia and metabolic syndrome in patients with cardiovascular disease. ( 18516267 )
2007
48
Homocysteinemia as an independent risk factor in the Chinese population at a high risk of coronary artery disease. ( 17659928 )
2007
49
Impaired spatial memory in APP-overexpressing mice on a homocysteinemia-inducing diet. ( 16837103 )
2007
50
Hyper-homocysteinemia alters amyloid peptide-clusterin interactions and neuroglial network morphology and function in the caudate after intrastriatal injection of amyloid peptides. ( 17627488 )
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 12)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 MMACHC MTHFR MTR MTRR SLC19A1
2
Show member pathways
12.01 CBS MTHFR MTR
3 11.78 CLU F2 F5
4
Show member pathways
11.7 CBS MTR MTRR
5
Show member pathways
11.61 CBS MTHFR MTR MTRR
6
Show member pathways
11.56 MMACHC MTR MTRR
7
Show member pathways
11.5 CBS CRP F2 MTHFR MTR MTRR
8 10.99 MTHFR SLC19A1
9 10.86 MMACHC SLC19A1
10 10.47 MMACHC MTR MTRR
11
Show member pathways
10.32 CBS MTHFR
12
Show member pathways
10.1 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 blood circulation GO:0008015 9.5 ELN F5 MTHFR
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 cellular amino acid biosynthetic process GO:0008652 9.43 CBS MTR MTRR
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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