MCID: HMC014
MIFTS: 53

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 brain, 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 is a medical condition characterized by an abnormally high level of homocysteine in... more...

Related Diseases for Homocysteinemia

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

(show top 50) (show all 328)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 33.2 MTHFR MTR
2 homocystinuria 31.8 CBS F5 MMACHC MTHFR MTR MTRR
3 central retinal vein occlusion 30.4 F2 F5 MTHFR SERPINC1
4 neural tube defects, folate-sensitive 30.3 MTHFR MTR MTRR
5 branch retinal artery occlusion 30.2 F2 MTHFR SERPINC1
6 antiphospholipid syndrome 30.1 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 30.0 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 29.9 F2 F5 MTHFR SERPINC1 SERPINE1
16 purpura 29.8 CRP F2 SERPINC1
17 myelomeningocele 29.8 CBS MTHFR SLC19A1
18 eclampsia 29.8 F2 MTHFR SERPINC1
19 ischemic heart disease 29.8 CRP MTHFR NOS3
20 placental abruption 29.8 F2 F5 MTHFR SERPINC1
21 protein c deficiency 29.8 F2 F5 MTHFR SERPINC1
22 budd-chiari syndrome 29.8 F2 F5 MTHFR SERPINC1
23 placenta disease 29.8 F5 MTHFR SERPINC1
24 atherosclerosis susceptibility 29.7 CRP H19 NOS3 SERPINE1
25 peripheral vascular disease 29.7 CRP F2 SERPINC1 SERPINE1
26 livedoid vasculitis 29.6 F2 MTHFR SERPINC1 SERPINE1
27 thrombophilia 29.6 F2 F5 MTHFR SERPINC1 SERPINE1
28 retinal artery occlusion 29.6 F2 F5 MTHFR SERPINC1 SERPINE1
29 pulmonary embolism 29.6 CRP F2 F5 MTHFR SERPINC1 SERPINE1
30 venous insufficiency 29.6 CRP F2 SERPINE1
31 infective endocarditis 29.6 CRP F2 SERPINE1
32 patent foramen ovale 29.5 F2 F5 MTHFR SERPINC1
33 osteonecrosis 29.5 F2 MTHFR SERPINC1 SERPINE1
34 thrombophilia due to activated protein c resistance 29.4 F2 F5 MTHFR SERPINC1 SERPINE1
35 arteries, anomalies of 29.3 CRP NOS3 SERPINC1 SERPINE1
36 cerebrovascular disease 29.3 CBS CRP F2 F5 MTHFR MTR
37 coronary artery anomaly 29.3 CRP F2 F5 NOS3 SERPINE1
38 neural tube defects 29.2 BHMT CBS H19 MTHFR MTR MTRR
39 buerger disease 29.2 F2 MTHFR NOS3 SERPINE1
40 thrombophilia due to thrombin defect 29.1 CBS F2 F5 MTHFR SERPINC1 SERPINE1
41 coronary heart disease 1 29.0 CRP H19 MTHFR NOS3 SERPINE1
42 ischemic optic neuropathy 28.8 F2 F5 MTHFR NOS3 SERPINC1
43 nonarteritic anterior ischemic optic neuropathy 28.8 F2 F5 MTHFR NOS3 SERPINC1
44 stroke, ischemic 28.5 CRP F2 F5 MTHFR NOS3 SERPINC1
45 myocardial infarction 28.4 CBS CRP F2 F5 MTHFR NOS3
46 pre-eclampsia 28.1 F2 F5 H19 MTHFR NOS3 SERPINC1
47 heart disease 28.1 CBS CRP F2 H19 MTHFR MTR
48 vascular disease 28.0 BHMT CBS CRP F2 F5 MTHFR
49 methylmalonic acidemia and homocysteinemia, cblx type 12.5
50 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.5

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 15589840 11953898
2
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
3
leucovorin Approved Phase 3,Not Applicable 58-05-9 143 6006
4
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
7
Cobalamin Experimental Phase 3 13408-78-1 6857388
8 Vitamin B12 Phase 3
9 Vitamin B9 Phase 3,Not Applicable
10 Folate Phase 3,Not Applicable
11 Vitamin B 6 Phase 3
12 Vitamin B 12 Phase 3
13 Vitamin B Complex Phase 3,Not Applicable
14 Vitamins Phase 3,Not Applicable
15
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
16 Nutrients Not Applicable
17 Trace Elements Not Applicable
18 Micronutrients 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, Brain, Liver, Kidney, Bone, Testes

Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 1761)
# Title Authors Year
1
Prenatal hyperhomocysteinemia induces oxidative stress and accelerates 'aging' of mammalian neuromuscular synapses. ( 30946975 )
2019
2
Association of vitamin B12 mediated hyperhomocysteinemia with depression and anxiety disorder: A cross-sectional study among Bhil indigenous population of India. ( 30904222 )
2019
3
Anemia, hematinic deficiencies, and hyperhomocysteinemia in gastric parietal cell antibody-positive and -negative atrophic glossitis patients. ( 30581105 )
2019
4
Hematinic deficiencies and hyperhomocysteinemia in gastric parietal cell antibody-positive or gastric and thyroid autoantibodies-negative atrophic glossitis patients. ( 30979649 )
2019
5
Atrophic glossitis: Etiology, serum autoantibodies, anemia, hematinic deficiencies, hyperhomocysteinemia, and management. ( 31076315 )
2019
6
The immunomodulatory mechanism of brain injury induced by hyperhomocysteinemia in spontaneously hypertensive rats. ( 30681198 )
2019
7
Attenuation of hyperhomocysteinemia induced vascular dementia by sodium orthovanadate perhaps via PTP1B: Pertinent downstream outcomes. ( 30721761 )
2019
8
Emodin Rescued Hyperhomocysteinemia-Induced Dementia and Alzheimer's Disease-Like Features in Rats. ( 30407508 )
2019
9
Effects of dietary supplementation with creatine on homocysteinemia and systemic microvascular endothelial function in individuals adhering to vegan diets. ( 30900301 )
2019
10
Hyperhomocysteinemia Accelerates Acute Kidney Injury to Chronic Kidney Disease Progression by Downregulating Heme Oxygenase-1 Expression. ( 30084650 )
2019
11
Hyperhomocysteinemia in men with a reproductive history of fetal neural tube defects: Three case reports and literature review. ( 30633186 )
2019
12
Cerebral venous sinus thrombosis due to hyperhomocysteinemia with cystathionine-β-synthase (CBS) gene mutation: A case report. ( 30732165 )
2019
13
High Prevalence and Factors Contributing to Hyperhomocysteinemia, Folate Deficiency, and Vitamin B12 Deficiency among Healthy Adults in Shanghai, China. ( 30696543 )
2019
14
An uncommon presentation of hyperhomocysteinemia and vitamin B12 deficiency: a case report. ( 30773142 )
2019
15
Study of the Inflammatory Mechanisms in Hyperhomocysteinemia on Large-Artery Atherosclerosis Based on Hypersensitive C-Reactive Protein-A Study from Southern China. ( 31080137 )
2019
16
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
17
Evaluation of platelet distribution width in hypertension with hyperhomocysteinemia. ( 30689431 )
2019
18
Hematinic deficiencies and hyperhomocysteinemia in gastric parietal cell antibody-positive or gastric and thyroid autoantibodies-negative Behcet's disease patients. ( 29898820 )
2019
19
Guanidinoacetic acid with creatine compared with creatine alone for tissue creatine content, hyperhomocysteinemia, and exercise performance: A randomized, double-blind superiority trial. ( 30170305 )
2019
20
Folate/Vitamin B Alleviates Hyperhomocysteinemia-Induced Alzheimer-Like Pathologies in Rat Retina. ( 30264378 )
2019
21
Remote ischemic conditioning as a cytoprotective strategy in vasculopathies during hyperhomocysteinemia: An emerging research perspective. ( 30272816 )
2019
22
Is hyperhomocysteinemia associated with the structural changes of the substantia nigra in Parkinson's disease? A two-year follow-up study. ( 30316729 )
2019
23
Picroside II attenuates hyperhomocysteinemia-induced endothelial injury by reducing inflammation, oxidative stress and cell apoptosis. ( 30394648 )
2019
24
Secondary hyperhomocysteinemia-related occlusive retinal vasculopathy: A case report. ( 30511034 )
2019
25
Human tissue kallikrein-1 protects against the development of erectile dysfunction in a rat model of hyperhomocysteinemia. ( 30618416 )
2019
26
Impaired autophagy mediates hyperhomocysteinemia-induced HA-VSMC phenotypic switching. ( 31028566 )
2019
27
Hyperhomocysteinemia as a Risk Factor and Potential Nutraceutical Target for Certain Pathologies. ( 31069230 )
2019
28
Association between the BHMT gene rs3733890 polymorphism and the efficacy of oral folate therapy in patients with hyperhomocysteinemia. ( 31111486 )
2019
29
Dietary Egg Protein Prevents Hyperhomocysteinemia via Upregulation of Hepatic Betaine-Homocysteine S-Methyltransferase Activity in Folate-Restricted Rats. ( 31111947 )
2019
30
Hyperhomocysteinemia-induced death of retinal ganglion cells: The role of Müller glial cells and NRF2. ( 31026769 )
2019
31
Orphan nuclear receptor NR4A1 suppresses hyperhomocysteinemia-induced hepatic steatosis in vitro and in vivo. ( 30973961 )
2019
32
Chronic mild Hyperhomocysteinemia impairs energy metabolism, promotes DNA damage and induces a Nrf2 response to oxidative stress in rats brain. ( 30949917 )
2019
33
Ganoderma triterpenes Protect Against Hyperhomocysteinemia Induced Endothelial-Mesenchymal Transition via TGF-β Signaling Inhibition. ( 30890956 )
2019
34
Hyperhomocysteinemia leads to exacerbation of ischemic brain damage: Role of GluN2A NMDA receptors. ( 30885791 )
2019
35
Hyperhomocysteinemia and risk of incident cognitive outcomes: an updated dose-response meta-analysis of prospective cohort studies. ( 30826501 )
2019
36
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
37
Inhibition of soluble epoxide hydrolase ameliorates hyperhomocysteinemia-induced hepatic steatosis by enhancing β-oxidation of fatty acid in mice. ( 30789748 )
2019
38
Hydrogen Sulfide Protects Hyperhomocysteinemia-Induced Renal Damage by Modulation of Caveolin and eNOS Interaction. ( 30778103 )
2019
39
Elevation of pS262-Tau and Demethylated PP2A in Retina Occurs Earlier than in Hippocampus During Hyperhomocysteinemia. ( 30775994 )
2019
40
Betaine-homocysteine S-methyltransferase deficiency causes increased susceptibility to noise-induced hearing loss associated to plasma hyperhomocysteinemia. ( 30753104 )
2019
41
Hyperhomocysteinemia induced endothelial progenitor cells dysfunction through hyper-methylation of CBS promoter. ( 30683311 )
2019
42
Liraglutide Ameliorates Hyperhomocysteinemia-Induced Alzheimer-Like Pathology and Memory Deficits in Rats via Multi-molecular Targeting. ( 30632006 )
2019
43
Hemoglobin, iron, vitamin B12, and folic acid deficiencies and hyperhomocysteinemia in Behcet's disease patients with atrophic glossitis. ( 29572125 )
2018
44
Significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients. ( 30087017 )
2018
45
Prevalence and clinical-demographic correlates of hyperhomocysteinemia in inpatients with bipolar disorder in a Han Chinese population. ( 29120844 )
2018
46
Histone Hyperacetylation as a Response to Global Brain Ischemia Associated with Hyperhomocysteinemia in Rats. ( 30322095 )
2018
47
Hyperhomocysteinemia as a Risk Factor for Vascular Contributions to Cognitive Impairment and Dementia. ( 30429785 )
2018
48
Correlation of hyper-homocysteinemia with coronary artery disease in absence of conventional risk factors among young adults. ( 30069136 )
2018
49
Effects of dietary supplementation with creatine on homocysteinemia and systemic microvascular endothelial function in individuals adhering to vegan diets. ( 30506745 )
2018
50
Relationships of Hyperhomocysteinemia and Hyperuricemia With Metabolic Syndrome and Renal Function in Chinese Centenarians. ( 30271378 )
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
13.87 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
11.73 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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