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MCID: HMC014
MIFTS: 48

Homocysteinemia

Categories: Rare diseases, Metabolic diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Homocysteinemia

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MalaCards integrated aliases for Homocysteinemia:

Name: Homocysteinemia 57 53 55 73
Hyperhomocysteinemia 57 12 76 29 55 44 15 73

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 57 603174
Disease Ontology 12 DOID:9279
MeSH 44 D020138
NCIt 50 C84770
SNOMED-CT 68 419503008
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Summaries for Homocysteinemia

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OMIM : 57 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 H19 (H19, Imprinted Maternally Expressed Transcript
The effect of hyperhomocysteinemia on H19 DMD methylation was tissue-specific. hyperhomocysteinemia produces tissue-specific changes in H19 DMD methylation and increased vascular expression of H19 in adult mice.
Dysfunction Pattern: Epigenetics), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Hydroxocobalamin and Cyanocobalamin have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and endothelial, and related phenotypes are homeostasis/metabolism and liver/biliary system

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

Wikipedia : 76 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... more...

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Related Diseases for Homocysteinemia

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

(show top 50) (show all 186)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 33.7 MTHFR MTR
2 homocystinuria 30.9 CBS F5 MMACHC MTHFR MTR MTRR
3 methylmalonic aciduria, cblb type 30.8 MMACHC MTHFR MTR
4 livedoid vasculopathy 30.5 F2 F5 MTHFR
5 thrombosis 30.2 F2 F5 MTHFR SERPINC1
6 lens subluxation 29.3 CBS MTHFR
7 ischemic heart disease 29.3 CRP F2 NOS3
8 cerebrovascular disease 29.2 CBS CRP F2 F5 MTHFR MTR
9 endocarditis 29.1 ALB CRP F2 SERPINC1
10 thrombophilia due to thrombin defect 29.1 CBS F2 F5 MTHFR SERPINC1
11 coronary artery anomaly 27.8 CBS CRP F5 H19 MTHFR NOS3
12 stroke, ischemic 27.8 CRP F2 F5 MTHFR NOS3 SERPINC1
13 arteries, anomalies of 27.3 ALB CRP F2 MTHFR NOS3 SERPINC1
14 heart disease 26.9 ALB CRP F2 H19 MTHFR NOS3
15 myocardial infarction 26.4 ALB CBS CRP F2 F5 MTHFR
16 vascular disease 25.1 ALB BHMT CBS CRP F2 F5
17 methylmalonic acidemia and homocysteinemia, cblx type 12.3
18 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.3
19 homocystinuria due to cystathionine beta-synthase deficiency 11.4
20 methylmalonic aciduria and homocystinuria type cble 10.9 MTR MTRR
21 methylmalonic aciduria and homocystinuria type cblg 10.9 MTR MTRR
22 inferior vena cava interruption 10.9 F5 MTHFR
23 methotrexate toxicity or dose selection 10.9 MTHFR SLC19A1
24 amaurosis fugax 10.9 F5 MTHFR
25 nondisjunction 10.9 MTHFR MTRR
26 paracetamol poisoning 10.8 F2 F5
27 mastoiditis 10.8 CRP MTHFR
28 acquired angioedema 10.8 CRP F5
29 mesenteric vascular occlusion 10.8 F2 MTHFR
30 malignant otitis externa 10.8 CRP F2
31 cerebral sinovenous thrombosis 10.7 F2 F5
32 hemoglobin e disease 10.7 F2 F5
33 neural tube defects, folate-sensitive 10.7 MTHFR MTR MTRR
34 mediastinitis 10.7 CRP F5
35 transcobalamin ii deficiency 10.7 MTHFR MTR MTRR
36 chronic thromboembolic pulmonary hypertension 10.7 CRP F2
37 testicular infarct 10.7 CRP MTHFR
38 disorders of intracellular cobalamin metabolism 10.7 MMACHC MTR MTRR
39 catastrophic antiphospholipid syndrome 10.7 F5 MTHFR
40 colorectal adenoma 10.6 CRP MTHFR MTR
41 anencephaly 10.6 MTHFR MTR MTRR
42 cryptogenic cirrhosis 10.6 F2 F5 MTHFR
43 porencephaly 10.6 F2 F5 MTHFR
44 sticky platelet syndrome 10.6 F5 SERPINC1
45 megaloblastic anemia 10.6 MTHFR MTR MTRR
46 thrombasthenia 10.6 F2 F5 MTHFR
47 ischemic neuropathy 10.6 CRP F2 MTHFR
48 vitamin metabolic disorder 10.6 MTHFR MTR
49 intestinal impaction 10.6 F2 SERPINC1
50 cerebral palsy 10.5 F2 F5 MTHFR

Graphical network of the top 20 diseases related to Homocysteinemia:



Diseases related to Homocysteinemia
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Symptoms & Phenotypes for Homocysteinemia

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Clinical features from OMIM:

603174

MGI Mouse Phenotypes related to Homocysteinemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 ALB BHMT CRP CTH F2 F5
2 liver/biliary system MP:0005370 9.7 SLC19A1 ALB BHMT CTH F5 NOS3
3 mortality/aging MP:0010768 9.7 AHCY ALB CTH F2 F5 MMACHC
4 renal/urinary system MP:0005367 9.17 ALB BHMT CTH MMACHC NOS3 SERPINC1
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Drugs & Therapeutics for Homocysteinemia

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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 11953898 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
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 Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients Completed NCT01391416
4 Pre-eclampsia/Eclampsia in Italy Over the Years 2010-2016 Recruiting NCT02982265
5 Study of Factors Influencing Post-stroke Dementia Recruiting NCT01330160

Search NIH Clinical Center for Homocysteinemia

Cochrane evidence based reviews: hyperhomocysteinemia

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Genetic Tests for Homocysteinemia

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Genetic tests related to Homocysteinemia:

# Genetic test Affiliating Genes
1 Hyperhomocysteinemia 29
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Anatomical Context for Homocysteinemia

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MalaCards organs/tissues related to Homocysteinemia:

41
Kidney, Heart, Endothelial, Lung, Liver, Testes, Smooth Muscle
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Publications for Homocysteinemia

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Articles related to Homocysteinemia:

(show top 50) (show all 117)
# Title Authors Year
1
Isolated Homocysteinemia Leading to Thromboembolism in Young Male with Normal Vitamin B12 and Folate Levels. ( 29492367 )
2017
2
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. ( 28327205 )
2017
3
The effect of levodopa benserazide hydrochloride on homocysteinemia levels in patients with Parkinson's disease and treatment of hyperhomocysteinemia. ( 27338068 )
2016
4
Homocysteinemia and early outcome of acute ischemic stroke in elderly patients. ( 27096104 )
2016
5
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
6
Homocysteinemia: A rare cause of priapism. ( 26834419 )
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 due to MTHFR deficiency in a young adult presenting with bilateral lens subluxations. ( 27046515 )
2016
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
Homocysteinemia After Hypertensive Pregnancy Disorders at Term. ( 26070038 )
2015
11
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
12
Comparison of homocysteinemia and MTHFR 677CT polymorphism with Framingham Coronary Heart Risk Score. ( 24793554 )
2014
13
Uricemia and homocysteinemia: nontraditional risk factors in the early stages of chronic kidney disease--preliminary data. ( 24763881 )
2014
14
Inflammatory status in chronic renal failure: The role of homocysteinemia and pro-inflammatory cytokines. ( 24175263 )
2013
15
Effect of the MTHFR 677C/T polymorphism on homocysteinemia in response to creatine supplementation: a case study. ( 23869894 )
2013
16
Preventive effects of Lentinus edodes on homocysteinemia in mice. ( 24137209 )
2013
17
Congenital lens dislocation and fatal cerebral vein thrombosis in a patient with homocysteinemia: a lesson for urgent screening of pediatric population. ( 23641747 )
2013
18
Homocysteinemia in mice with genetic betaine homocysteine S-methyltransferase deficiency is independent of dietary folate intake. ( 23014492 )
2012
19
The contribution of portal drained viscera to circadian homocysteinemia in pigs. ( 23365285 )
2012
20
Subclavian steal syndrome secondary to subclavian artery thrombosis in a patient with homocysteinemia and its successful treatment. ( 23866465 )
2012
21
Study of the effect of antiviral therapy on homocysteinemia in hepatitis C virus- infected patients. ( 22925702 )
2012
22
Increased homocysteinemia is associated with beneficial effects on body weight after long-term high-protein, low-fat diet in rats. ( 22554959 )
2012
23
Factor V Leiden, prothrombin 20210G>A, MTHFR 677C>T and 1298A>C, and homocysteinemia in Tunisian blood donors. ( 22628232 )
2012
24
Homocysteinemia and B vitamin status among adult patients with inflammatory bowel disease: a one-year prospective follow-up study. ( 21604334 )
2012
25
Relation of homocysteinemia to contrast-induced nephropathy in patients undergoing percutaneous coronary intervention. ( 21791335 )
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
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
Inherited hyper-homocysteinemia as a cause of nonbacterial thrombotic endocarditis. ( 21560828 )
2011
31
Moderate or supranormal folic acid supplementation does not exert a protective effect for homocysteinemia and methylation markers in growing rats. ( 20134159 )
2010
32
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
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
[Homocysteinemia in polycystic ovary syndrome women]. ( 20512259 )
2010
35
The activation of endothelin-1 pathway during methionine-induced homocysteinemia mediates endothelial dysfunction in hypertensive individuals. ( 20160653 )
2010
36
Frequency of afterload homocysteinemia in normal population of Southern Iran: a pilot study. ( 20836293 )
2010
37
Severe In vivo hyper-homocysteinemia is not associatedwith elevation of amyloid-beta peptides in the Tg2576 mice. ( 20555139 )
2010
38
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. ( 19573432 )
2009
39
The metabolic syndrome is not associated with homocysteinemia: the Persian Gulf Healthy Heart Study. ( 19794288 )
2009
40
Homocysteinemia correlates with plasma thiol redox status in patients with end-stage renal disease. ( 18212512 )
2008
41
Differential associations between lipid-lowering drugs, statins and fibrates, and venous thromboembolism: role of drug induced homocysteinemia? ( 18048086 )
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
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
45
Serum paraoxonase 1 activities and homocysteinemia in hemodialysis patients. ( 18601616 )
2008
46
Antiepileptic drugs and MTHFR polymorphisms influence hyper-homocysteinemia recurrence in epileptic patients. ( 17561949 )
2007
47
High frequency of vitamin B12 deficiency in asymptomatic individuals homozygous to MTHFR C677T mutation is associated with endothelial dysfunction and homocysteinemia. ( 17449548 )
2007
48
Homocysteinemia as an independent risk factor in the Chinese population at a high risk of coronary artery disease. ( 17659928 )
2007
49
Association between homocysteinemia and metabolic syndrome in patients with cardiovascular disease. ( 18516267 )
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
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Variations for Homocysteinemia

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Expression for Homocysteinemia

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Search GEO for disease gene expression data for Homocysteinemia.
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Pathways for Homocysteinemia

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Pathways related to Homocysteinemia according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.8 AHCY ALB BHMT CBS CTH MMACHC
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.37 MMACHC MTHFR MTR MTRR SLC19A1
3
Carbon metabolism 37
Show member pathways
 12.08 CBS CTH MTHFR MTR
4
Complement and coagulation cascades 1 37
11.86 F2 F5 SERPINC1
5
Sulfur amino acid metabolism 66
Show member pathways
 11.72 AHCY BHMT CBS CTH MTR MTRR
6
Diseases of metabolism 66
Show member pathways
 11.65 MMACHC MTR MTRR
7
One carbon pool by folate 37
Show member pathways
 11.65 AHCY BHMT CBS CTH MTHFR MTR
8
Folate Metabolism 1
Show member pathways
 11.65 AHCY ALB CBS CRP CTH F2
9
Amino Acid metabolism 1
11.63 BHMT CBS CTH
10
Glycine, serine and threonine metabolism 37
Show member pathways
 11.3 BHMT CBS CTH
11
Vitamin digestion and absorption 37
10.93 MMACHC SLC19A1
12
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.76 MMACHC MTR MTRR
13
Selenocompound metabolism 37
10.75 CTH MTR
14
Folate-Alcohol and Cancer Pathway 1
Show member pathways
 10.43 CBS MTHFR
15
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 66
Show member pathways
 9.92 MTR MTRR
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GO Terms for Homocysteinemia

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

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.92 ALB F2 F5 SERPINC1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.99 CBS MMACHC MTHFR MTRR NOS3
2 cellular protein metabolic process GO:0044267 9.87 ALB F2 F5 SERPINC1
3 methylation GO:0032259 9.84 AHCY BHMT MTR MTRR
4 hemostasis GO:0007599 9.7 F2 F5 SERPINC1
5 regulation of blood coagulation GO:0030193 9.58 F2 SERPINC1
6 negative regulation of platelet activation GO:0010544 9.58 F2 NOS3
7 methionine metabolic process GO:0006555 9.56 MTHFR MTRR
8 S-adenosylmethionine metabolic process GO:0046500 9.55 BHMT MTHFR
9 folic acid metabolic process GO:0046655 9.54 MTHFR MTRR SLC19A1
10 transsulfuration GO:0019346 9.51 CBS CTH
11 cobalamin metabolic process GO:0009235 9.5 MMACHC MTR MTRR
12 cysteine biosynthetic process GO:0019344 9.49 CBS CTH
13 S-adenosylmethionine cycle GO:0033353 9.48 AHCY MTRR
14 cysteine biosynthetic process via cystathionine GO:0019343 9.46 CBS CTH
15 cellular amino acid biosynthetic process GO:0008652 9.46 CBS CTH MTR MTRR
16 hydrogen sulfide biosynthetic process GO:0070814 9.43 CBS CTH
17 methionine biosynthetic process GO:0009086 9.43 BHMT MTR MTRR
18 homocysteine catabolic process GO:0043418 9.4 CBS MTRR
19 homocysteine metabolic process GO:0050667 9.13 CBS MTHFR MTRR
20 sulfur amino acid metabolic process GO:0000096 8.92 AHCY BHMT MTR MTRR

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 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen GO:0016709 9.46 MTRR NOS3
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
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Sources for Homocysteinemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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