MCID: HMC014
MIFTS: 52

Homocysteinemia

Categories: Blood diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Homocysteinemia

MalaCards integrated aliases for Homocysteinemia:

Name: Homocysteinemia 58 54 56 74
Hyperhomocysteinemia 58 12 77 30 56 45 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:9279
OMIM 58 603174
MeSH 45 D020138
NCIt 51 C84770
MedGen 43 C3495426

Summaries for Homocysteinemia

OMIM : 58 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), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include endothelial, heart and kidney, and related phenotypes are Decreased shRNA abundance and homeostasis/metabolism

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

Wikipedia : 77 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 325)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 33.2 MTHFR MTR
2 homocystinuria 31.7 CBS F5 MMACHC MTHFR MTR MTRR
3 neural tube defects, folate-sensitive 30.4 MTHFR MTR MTRR
4 central retinal vein occlusion 30.3 F2 F5 MTHFR SERPINC1
5 branch retinal artery occlusion 30.0 F2 MTHFR SERPINC1
6 antiphospholipid syndrome 30.0 F2 F5 MTHFR SERPINC1
7 acute myocardial infarction 30.0 CRP SERPINC1 SERPINE1
8 retinal vein occlusion 30.0 F2 F5 MTHFR SERPINC1 SERPINE1
9 endocarditis 30.0 CRP F2 SERPINC1
10 thrombosis 29.9 F2 F5 MTHFR SERPINC1 SERPINE1
11 chronic thromboembolic pulmonary hypertension 29.9 CRP F2
12 colorectal adenoma 29.9 CRP MTHFR MTR
13 megaloblastic anemia 29.9 MTHFR MTR MTRR
14 protein s deficiency 29.9 F2 F5 MTHFR SERPINC1
15 portal vein thrombosis 29.8 F2 F5 MTHFR SERPINC1 SERPINE1
16 purpura 29.8 CRP F2 SERPINC1
17 ischemic heart disease 29.7 CRP MTHFR NOS3
18 eclampsia 29.7 F2 MTHFR SERPINC1
19 placental abruption 29.7 F2 F5 MTHFR SERPINC1
20 protein c deficiency 29.7 F2 F5 MTHFR SERPINC1
21 budd-chiari syndrome 29.7 F2 F5 MTHFR SERPINC1
22 placenta disease 29.7 F5 MTHFR SERPINC1
23 atherosclerosis susceptibility 29.6 CRP H19 NOS3 SERPINE1
24 livedoid vasculitis 29.6 F2 MTHFR SERPINC1 SERPINE1
25 thrombophilia 29.6 F2 F5 MTHFR SERPINC1 SERPINE1
26 retinal artery occlusion 29.6 F2 F5 MTHFR SERPINC1 SERPINE1
27 pulmonary embolism 29.6 CRP F2 F5 MTHFR SERPINC1 SERPINE1
28 venous insufficiency 29.6 CRP F2 SERPINE1
29 infective endocarditis 29.6 CRP F2 SERPINE1
30 patent foramen ovale 29.5 F2 F5 MTHFR SERPINC1
31 osteonecrosis 29.5 F2 MTHFR SERPINC1 SERPINE1
32 arteries, anomalies of 29.3 CRP NOS3 SERPINC1 SERPINE1
33 cerebrovascular disease 29.3 CBS CRP F2 F5 MTHFR MTR
34 coronary artery anomaly 29.2 CRP F2 F5 NOS3 SERPINE1
35 peripheral vascular disease 29.2 CRP F2 SERPINC1 SERPINE1
36 neural tube defects 29.2 BHMT CBS H19 MTHFR MTR MTRR
37 buerger disease 29.2 F2 MTHFR NOS3 SERPINE1
38 thrombophilia due to thrombin defect 29.1 CBS F2 F5 MTHFR SERPINC1 SERPINE1
39 coronary heart disease 1 29.0 CRP H19 MTHFR NOS3 SERPINE1
40 ischemic optic neuropathy 28.8 F2 F5 MTHFR NOS3 SERPINC1
41 nonarteritic anterior ischemic optic neuropathy 28.8 F2 F5 MTHFR NOS3 SERPINC1
42 stroke, ischemic 28.4 CRP F2 F5 MTHFR NOS3 SERPINC1
43 myocardial infarction 28.3 CBS CRP F2 F5 MTHFR NOS3
44 heart disease 28.1 CBS CRP F2 H19 MTHFR MTR
45 pre-eclampsia 28.1 F2 F5 H19 MTHFR NOS3 SERPINC1
46 vascular disease 27.9 BHMT CBS CRP F2 F5 MTHFR
47 methylmalonic acidemia and homocysteinemia, cblx type 12.5
48 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.5
49 homocystinuria due to cystathionine beta-synthase deficiency 11.6
50 methylmalonic aciduria and homocystinuria type cble 10.4 MTR MTRR

Graphical network of the top 20 diseases related to Homocysteinemia:



Diseases related to Homocysteinemia

Symptoms & Phenotypes for Homocysteinemia

Clinical features from OMIM:

603174

GenomeRNAi Phenotypes related to Homocysteinemia according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 AHCY MMACHC MTR NOS3

MGI Mouse Phenotypes related to Homocysteinemia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 BHMT CRP CTH F2 F5 MMACHC
2 growth/size/body region MP:0005378 10.02 BHMT CTH F2 F5 MMACHC MTHFR
3 liver/biliary system MP:0005370 9.76 BHMT CTH F5 MTHFR NOS3 SERPINC1
4 mortality/aging MP:0010768 9.7 AHCY CTH F2 F5 MMACHC MTHFR
5 renal/urinary system MP:0005367 9.17 BHMT CTH MMACHC NOS3 SERPINC1 SERPINE1

Drugs & Therapeutics for Homocysteinemia

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

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
2
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
3
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
4
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
5
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
7
Cobalamin Experimental Phase 3 13408-78-1 6857388
8 Vitamin B 12 Phase 3
9 Vitamin B Complex Phase 3,Not Applicable
10 Vitamins Phase 3,Not Applicable
11 Vitamin B9 Phase 3,Not Applicable
12 Folate Phase 3,Not Applicable
13 Vitamin B 6 Phase 3
14 Vitamin B12 Phase 3
15
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
16 Micronutrients Not Applicable
17 Trace Elements Not Applicable
18 Nutrients Not Applicable
19 Hematinics Not Applicable

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 Adding Folic Acid on Lipid Parameters in Population With Dyslipidemias Not yet recruiting NCT03674333 Not Applicable
3 Effect of Cerefolin®/CerefolinNAC® on Biomarker Measurements Completed NCT01745198
4 Prevalence Of Hyperhomocysteinemia In Thai Chronic Kidney Disease (CKD) Patients Completed NCT01391416
5 Pre-eclampsia/Eclampsia in Italy Over the Years 2010-2016 Recruiting NCT02982265
6 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 30

Anatomical Context for Homocysteinemia

MalaCards organs/tissues related to Homocysteinemia:

42
Endothelial, Heart, Kidney, Brain, Liver, Testes, Bone

Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 890)
# Title Authors Year
1
Association of vitamin B12 mediated hyperhomocysteinemia with depression and anxiety disorder: A cross-sectional study among Bhil indigenous population of India. ( 30904222 )
2019
2
Anemia, hematinic deficiencies, and hyperhomocysteinemia in gastric parietal cell antibody-positive and -negative atrophic glossitis patients. ( 30581105 )
2019
3
The immunomodulatory mechanism of brain injury induced by hyperhomocysteinemia in spontaneously hypertensive rats. ( 30681198 )
2019
4
Attenuation of hyperhomocysteinemia induced vascular dementia by sodium orthovanadate perhaps via PTP1B: pertinent downstream outcomes. ( 30721761 )
2019
5
Effects of dietary supplementation with creatine on homocysteinemia and systemic microvascular endothelial function in individuals adhering to vegan diets. ( 30900301 )
2019
6
Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review. ( 30633186 )
2019
7
Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report. ( 30732165 )
2019
8
High Prevalence and Factors Contributing to Hyperhomocysteinemia, Folate Deficiency, and Vitamin B12 Deficiency among Healthy Adults in Shanghai, China. ( 30696543 )
2019
9
An uncommon presentation of hyperhomocysteinemia and vitamin B12 deficiency: a case report. ( 30773142 )
2019
10
Corrigendum to "Knockdown of Herp alleviates hyperhomocysteinemia mediated atherosclerosis through the inhibition of vascular smooth muscle cell phenotype switching" [Int. J. Cardiol. 269 (2018) 242-249]. ( 30336961 )
2019
11
Hematinic deficiencies and hyperhomocysteinemia in gastric parietal cell antibody-positive or gastric and thyroid autoantibodies-negative Behcet's disease patients. ( 29898820 )
2019
12
Guanidinoacetic acid with creatine compared with creatine alone for tissue creatine content, hyperhomocysteinemia, and exercise performance: A randomized, double-blind superiority trial. ( 30170305 )
2019
13
Remote ischemic conditioning as a cytoprotective strategy in vasculopathies during hyperhomocysteinemia: An emerging research perspective. ( 30272816 )
2019
14
Secondary hyperhomocysteinemia-related occlusive retinal vasculopathy: A case report. ( 30511034 )
2019
15
Human tissue kallikrein-1 protects against the development of erectile dysfunction in a rat model of hyperhomocysteinemia. ( 30618416 )
2019
16
Liraglutide Ameliorates Hyperhomocysteinemia-Induced Alzheimer-Like Pathology and Memory Deficits in Rats via Multi-molecular Targeting. ( 30632006 )
2019
17
Hyperhomocysteinemia induced endothelial progenitor cells dysfunction through hyper-methylation of CBS promoter. ( 30683311 )
2019
18
Evaluation of platelet distribution width in hypertension with hyperhomocysteinemia. ( 30689431 )
2019
19
Betaine-homocysteine S-methyltransferase deficiency causes increased susceptibility to noise-induced hearing loss associated to plasma hyperhomocysteinemia. ( 30753104 )
2019
20
Elevation of pS262-Tau and Demethylated PP2A in Retina Occurs Earlier than in Hippocampus During Hyperhomocysteinemia. ( 30775994 )
2019
21
Hydrogen Sulfide Protects Hyperhomocysteinemia-Induced Renal Damage by Modulation of Caveolin and eNOS Interaction. ( 30778103 )
2019
22
Inhibition of Soluble Epoxide Hydrolase Ameliorates Hyperhomocysteinemia-Induced Hepatic Steatosis by Enhancing β-oxidation of Fatty Acid in Mice. ( 30789748 )
2019
23
Double-sidedness of "laughing gas" on the N-methyl-d-aspartate receptor: A case report of acute psychosis associated with nitrous oxide-induced hyperhomocysteinemia. ( 30795875 )
2019
24
Hyperhomocysteinemia and risk of incident cognitive outcomes: an updated dose-response meta-analysis of prospective cohort studies. ( 30826501 )
2019
25
Hyperhomocysteinemia leads to exacerbation of ischemic brain damage: Role of GluN2A NMDA receptors. ( 30885791 )
2019
26
Ganoderma triterpenes Protect Against Hyperhomocysteinemia Induced Endothelial-Mesenchymal Transition via TGF-β Signaling Inhibition. ( 30890956 )
2019
27
Significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients. ( 30087017 )
2018
28
Prevalence and clinical-demographic correlates of hyperhomocysteinemia in inpatients with bipolar disorder in a Han Chinese population. ( 29120844 )
2018
29
Histone Hyperacetylation as a Response to Global Brain Ischemia Associated with Hyperhomocysteinemia in Rats. ( 30322095 )
2018
30
Hyperhomocysteinemia as a Risk Factor for Vascular Contributions to Cognitive Impairment and Dementia. ( 30429785 )
2018
31
Emodin rescued hyperhomocysteinemia-induced dementia and Alzheimer's disease-like features in rats. ( 30407508 )
2018
32
Correlation of hyper-homocysteinemia with coronary artery disease in absence of conventional risk factors among young adults. ( 30069136 )
2018
33
Effects of dietary supplementation with creatine on homocysteinemia and systemic microvascular endothelial function in individuals adhering to vegan diets. ( 30506745 )
2018
34
Relationships of Hyperhomocysteinemia and Hyperuricemia With Metabolic Syndrome and Renal Function in Chinese Centenarians. ( 30271378 )
2018
35
Hyperhomocysteinemia in acute iatrogenic hypothyroidism: the relevance of thyroid autoimmunity. ( 29288439 )
2018
36
Association of Induced Hyperhomocysteinemia with Alzheimer's Disease-Like Neurodegeneration in Rat Cortical Neurons After Global Ischemia-Reperfusion Injury. ( 30003389 )
2018
37
Hyperhomocysteinemia Accelerates Acute Kidney Injury to Chronic Kidney Disease Progression by Downregulating Heme Oxygenase-1 Expression. ( 30084650 )
2018
38
Homocysteine causes dysfunction of chondrocytes and oxidative stress through repression of SIRT1/AMPK pathway: A possible link between hyperhomocysteinemia and osteoarthritis. ( 29413962 )
2018
39
Simultaneous pulmonary thromboembolism and superior mesenteric venous thrombosis associated with hyperhomocysteinemia secondary to pernicious anemia-induced vitamin B12 deficiency. ( 30057976 )
2018
40
Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine β-synthase-mediated homocysteine metabolism. ( 29804940 )
2018
41
Autopsy findings in an atypical case of occult massive fatal pulmonary embolism in a backdrop of hyperhomocysteinemia. ( 29567899 )
2018
42
Severe hyperhomocysteinemia manifesting as moyamoya vasculopathy and Henoch-Schonlein purpura. ( 30021915 )
2018
43
Association of hyperhomocysteinemia with genetic variants in key enzymes of homocysteine metabolism and methotrexate toxicity in rheumatoid arthritis patients. ( 29796841 )
2018
44
Different doses of folic acid and vitamin B12 to treat rabbits with deep venous thrombosis and hyperhomocysteinemia. ( 29456691 )
2018
45
Hyperhomocysteinemia and Risk of First Venous Thrombosis: The Influence of (Unmeasured) Confounding Factors. ( 29370361 )
2018
46
Analytic Approaches for the Treatment of Hyperhomocysteinemia and Its Impact on Vascular Disease. ( 29679304 )
2018
47
Knockdown of Herp alleviates hyperhomocysteinemia mediated atherosclerosis through the inhibition of vascular smooth muscle cell phenotype switching. ( 30017525 )
2018
48
Association between hyperhomocysteinemia and metabolic syndrome with early carotid artery atherosclerosis: A cross-sectional study in middle-aged Chinese population. ( 29778949 )
2018
49
GSNOR modulates hyperhomocysteinemia-induced T cell activation and atherosclerosis by switching Akt S-nitrosylation to phosphorylation. ( 29860106 )
2018
50
PKM2-dependent metabolic reprogramming in CD4+ T cells is crucial for hyperhomocysteinemia-accelerated atherosclerosis. ( 29732501 )
2018

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 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.85 AHCY BHMT CBS CTH MMACHC MTHFR
2
Show member pathways
12.41 MMACHC MTHFR MTR MTRR SLC19A1
3
Show member pathways
12.08 CBS CTH MTHFR MTR
4
Show member pathways
11.87 F2 F5 SERPINC1 SERPINE1
5 11.77 F2 F5 SERPINC1 SERPINE1
6
Show member pathways
11.72 AHCY BHMT CBS CTH MTR MTRR
7
Show member pathways
11.66 AHCY CBS CRP CTH F2 MTHFR
8
Show member pathways
11.65 MMACHC MTR MTRR
9
Show member pathways
11.65 AHCY BHMT CBS CTH MTHFR MTR
10 11.63 BHMT CBS CTH
11
Show member pathways
11.32 BHMT CBS CTH
12 10.93 MMACHC SLC19A1
13 10.77 CTH MTR
14 10.76 MMACHC MTR MTRR
15 10.38 CBS MTHFR

GO Terms for Homocysteinemia

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.98 CBS MMACHC MTHFR MTRR NOS3
2 hemostasis GO:0007599 9.67 F2 F5 SERPINC1
3 fibrinolysis GO:0042730 9.6 F2 SERPINE1
4 one-carbon metabolic process GO:0006730 9.59 AHCY MTHFR
5 positive regulation of blood coagulation GO:0030194 9.58 F2 SERPINE1
6 regulation of blood coagulation GO:0030193 9.57 F2 SERPINC1
7 negative regulation of fibrinolysis GO:0051918 9.56 F2 SERPINE1
8 negative regulation of platelet activation GO:0010544 9.55 F2 NOS3
9 cysteine biosynthetic process GO:0019344 9.54 CBS CTH
10 methionine metabolic process GO:0006555 9.52 MTHFR MTRR
11 S-adenosylmethionine metabolic process GO:0046500 9.51 BHMT MTHFR
12 cobalamin metabolic process GO:0009235 9.5 MMACHC MTR MTRR
13 sulfur amino acid metabolic process GO:0000096 9.48 AHCY BHMT
14 transsulfuration GO:0019346 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 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR SLC19A1
18 cysteine biosynthetic process via cystathionine GO:0019343 9.4 CBS CTH
19 homocysteine catabolic process GO:0043418 9.37 CBS MTRR
20 homocysteine metabolic process GO:0050667 9.13 CBS MTHFR MTRR
21 methionine biosynthetic process GO:0009086 8.92 BHMT MTHFR MTR MTRR

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

# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.5 MTHFR MTRR NOS3
2 FMN binding GO:0010181 9.4 MTRR NOS3
3 cobalamin binding GO:0031419 9.37 MMACHC MTR
4 modified amino acid binding GO:0072341 9.26 CBS MTHFR
5 NADPH-hemoprotein reductase activity GO:0003958 9.16 MTRR NOS3
6 NADP binding GO:0050661 9.13 MTHFR MTRR NOS3
7 FAD binding GO:0071949 8.8 MMACHC MTHFR MTRR

Sources for Homocysteinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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