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MCID: HMC014
MIFTS: 54

Homocysteinemia

Categories: Blood diseases, Genetic diseases, Metabolic diseases, Rare diseases
Genes Variations 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 72
Hyperhomocysteinemia 57 12 75 29 55 6 44 15 72

Classifications:

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


External Ids:

Disease Ontology 12 DOID:9279
OMIM 57 603174
MeSH 44 D020138
NCIt 50 C84770
MedGen 42 C3495426
UMLS 72 C0598608 C3495426
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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 cystathioninuria. 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 Amlodipine and Hydrochlorothiazide 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 : 75 Hyperhomocysteinemia is a medical condition characterized by an abnormally high level of homocysteine in... 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 528)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.1 MTR MTHFR
2 cystathioninuria 32.0 MTHFR CTH CBS
3 homocystinuria 31.8 SERPINC1 MTRR MTR MTHFR MMACHC F5
4 disorders of intracellular cobalamin metabolism 30.8 MTRR MTR MMACHC
5 megaloblastic anemia 30.8 MTRR MTR MTHFR
6 placenta disease 30.8 SERPINC1 MTHFR F5
7 neural tube defects, folate-sensitive 30.6 MTRR MTR MTHFR
8 eclampsia 30.6 SERPINC1 MTHFR F2
9 central retinal vein occlusion 30.6 SERPINC1 MTHFR F5 F2
10 branch retinal artery occlusion 30.5 SERPINC1 MTHFR F2
11 methylmalonic aciduria and homocystinuria, cblc type 30.4 MTR MMACHC CBS
12 antiphospholipid syndrome 30.3 SERPINC1 MTHFR F5 F2
13 lens subluxation 30.3 MTHFR CBS
14 purpura 30.3 SERPINC1 F2 CRP
15 amaurosis fugax 30.3 SERPINE1 MTHFR F5
16 chronic thromboembolic pulmonary hypertension 30.3 F2 CRP
17 marantic endocarditis 30.2 SERPINC1 MTHFR F2
18 dysfibrinogenemia 30.2 SERPINC1 F5 F2
19 colorectal adenoma 30.2 MTR MTHFR CRP
20 placental abruption 30.2 SERPINC1 MTHFR F5 F2
21 endocarditis 30.2 SERPINC1 F2 CRP
22 neonatal stroke 30.2 SERPINE1 MTHFR
23 venous insufficiency 30.0 SERPINE1 F2 CRP
24 budd-chiari syndrome 30.0 SERPINC1 MTHFR F5 F2
25 intracranial thrombosis 30.0 SERPINC1 MTHFR F5
26 myelomeningocele 30.0 SLC19A1 MTHFR CBS
27 retinal vein occlusion 30.0 SERPINE1 SERPINC1 MTHFR F5 F2
28 acute myocardial infarction 30.0 SERPINE1 SERPINC1 CRP
29 protein s deficiency 30.0 SERPINC1 MTHFR F5 F2
30 retinal vascular occlusion 29.8 SERPINC1 MTHFR F5 F2
31 protein c deficiency 29.8 SERPINC1 MTHFR F5 F2
32 amino acid metabolic disorder 29.8 MTR MTHFR MMACHC CBS
33 portal vein thrombosis 29.8 SERPINE1 SERPINC1 MTHFR F5 F2
34 infective endocarditis 29.7 SERPINE1 F2 CRP
35 varicose veins 29.6 SERPINC1 MTHFR F5 F2
36 patent foramen ovale 29.6 SERPINC1 MTHFR F5 F2
37 livedoid vasculitis 29.6 SERPINE1 SERPINC1 MTHFR F2
38 retinal artery occlusion 29.5 SERPINE1 SERPINC1 MTHFR F5 F2
39 carotid artery thrombosis 29.5 SERPINE1 NOS3
40 thrombosis 29.5 SERPINE1 SERPINC1 MTHFR F5 F2
41 peripheral vascular disease 29.4 SERPINE1 SERPINC1 F2 CRP
42 angina pectoris 29.4 SERPINC1 NOS3 CRP
43 osteonecrosis 29.4 SERPINE1 SERPINC1 MTHFR F2
44 atherosclerosis susceptibility 29.3 SERPINE1 NOS3 H19 CRP
45 thrombophilia 29.3 SERPINE1 SERPINC1 MTHFR F5 F2
46 thrombophilia due to activated protein c resistance 29.2 SERPINE1 SERPINC1 MTHFR F5 F2
47 pulmonary embolism 29.2 SERPINE1 SERPINC1 MTHFR F5 F2 CRP
48 arteries, anomalies of 29.2 SERPINE1 SERPINC1 NOS3 CRP
49 cerebrovascular disease 29.2 SERPINE1 MTR MTHFR F5 F2 CRP
50 buerger disease 29.1 SERPINE1 NOS3 MTHFR F2

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

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

26
# 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:

46
# 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
Sources

Drugs & Therapeutics for Homocysteinemia

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

(show top 50) (show all 146)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Amlodipine Approved Phase 4 88150-42-9 2162
2
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
3
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
4
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
5
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
6
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 65-23-6 1054
7
Creatine Approved, Investigational, Nutraceutical Phase 4 57-00-1 586
8
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
9
Uric acid Investigational Phase 4 69-93-2 1175
10 calcium channel blockers Phase 4
11 Sodium Chloride Symporter Inhibitors Phase 4
12 Natriuretic Agents Phase 4
13 Adrenergic beta-Antagonists Phase 4
14 Adrenergic Antagonists Phase 4
15 diuretics Phase 4
16 Adrenergic Agents Phase 4
17 Lipid Regulating Agents Phase 4
18 Vitamin B 6 Phase 4
19 Hypolipidemic Agents Phase 4
20 Antimetabolites Phase 4
21 Vasodilator Agents Phase 4
22 Analgesics Phase 4
23 Central Nervous System Depressants Phase 4
24 Peripheral Nervous System Agents Phase 4
25 Analgesics, Non-Narcotic Phase 4
26 Anesthetics Phase 4
27 Anesthetics, General Phase 4
28 Anesthetics, Inhalation Phase 4
29 Omega 3 Fatty Acid Phase 4
30 Nicotinic Acids Phase 4
31 Vitamin B3 Phase 4
32
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
33
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
34
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
35
Hydroquinone Approved, Investigational Phase 3 123-31-9 785
36
Sodium citrate Approved, Investigational Phase 3 68-04-2
37
Heparin Approved, Investigational Phase 3 9005-49-6 46507594 772
38
Dalteparin Approved Phase 3 9005-49-6
39
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
40
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
41
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
42
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
43
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
44
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
45
Choline Approved, Nutraceutical Phase 3 62-49-7 305
46
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
47
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
48
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 59-43-8, 70-16-6 1130
49
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
50
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 Periprocedural Administration of Folic Acid for Prevention of Contrast Induced Nephropathy in Patients Undergoing Coronary CTA/Angiography/Angioplasty Unknown status NCT02444013 Phase 4 Folic acid;Placebo
2 Effects of Intensive Antihypertensive Therapies on the Risk of Stroke in Hypertensive Adults: A Prospective Randomized Open-Label Blinded-Endpoint Trial, a Feasibility Study Unknown status NCT02817503 Phase 4 Standard BP control;Moderate BP control;Intensive BP control
3 Effect of Folic Acid Supplementation on Plasma Homocysteine Level in Obese Children: a Randomized Double Blinded Placebo Controlled Trial Completed NCT01766310 Phase 4 Folic Acid;placebo
4 Influence of the MTHFR 677C>T Mutation on Homocysteine Levels After Nitrous Oxide Anesthesia. Completed NCT00482456 Phase 4 Nitrous oxide
5 Randomized Clinical Trial of Folate Therapy/Placebo for Reduction of Homocysteine Serum Levels in Uremic Patients and Influence on Cardiovascular Mortality Completed NCT00317005 Phase 4 folate treatment
6 Folic Acid and Creatine as Therapeutic Approaches for Lowering Blood Arsenic Completed NCT01050556 Phase 4
7 Enalapril Maleate and Folic Acid Tablets for Primary Prevention of Stroke in Patients With Hypertension: a Post-marketing, Double-blind, Randomized Controlled Trial. Completed NCT00794885 Phase 4 Enalapril/folic acid;Enalapril maleate
8 Effects of Treatment With Omacor for 6 Weeks on Preprandial and Postprandial Endothelial Function Following a High Fat Meal in Patients With Type 2 Diabetes Mellitus Completed NCT00328536 Phase 4 Omacor
9 The Treatment of Acute Schizophrenia With High Dose Niacinmide Plus Ascorbate Plus Pyridoxine Plus Centrum Forte vs. Centrum Forte Only as an Add-On to Risperidone and Dietary Counseling Completed NCT00140166 Phase 4 niacinamide;pyridoxine;ascorbate
10 Enalapril Maleate and Folic Acid Tablets for Prevention of Chronic Kidney Diseases in Patients With Hypertension: a Double-blind Randomized Controlled Trial Withdrawn NCT01871740 Phase 4 Enalapril maleate and folic acid tablets;Enalapril maleate
11 Efficacy of Amlodipine-folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine in Patients With Mild to Moderate Hypertension and Hyperhomocysteinemia ：a Double-blind Randomized Controlled Trial Unknown status NCT01848873 Phase 2, Phase 3 Amlodipine;amlodipine-FA tablet, low dose group;amlodipine-FA tablet ,high dose group
12 Efficacy Study of Folic Acid Supplementation on Homocysteine Levels in Adolescent Epileptics Taking Antiepileptic Drugs: A Single Blind Randomized Controlled Clinical Trial Unknown status NCT02318446 Phase 3 Folic Acid;Saccharine
13 Efficacy of Amlodipine-Folic Acid Tablets on Reduction of Blood Pressure and Plasma Homocysteine in Patients With Mild to Moderate Hypertension, Hyperhomocysteinemia and Angiotension-Converting Enzyme Inhibitor Intolerance Unknown status NCT01956786 Phase 2, Phase 3 Amlodipine-FA tablet,low dose group;Amlodipine-FA tablet,high dose group;Amlodipine
14 Department of Geriatrics Completed NCT02575092 Phase 2, Phase 3 Enalapril Maleate Tablets(as the program-based antihypertension);Enalapril Maleate and Folic Acid tablets(as the program-based antihypertension);Placebo
15 Effects of Low-dose B-vitamins Supplementation on Plasma Homocysteine and Framingham Risk Score: Double Blind Randomized Controlled Trial in Healthy Chinese Elderly Completed NCT00755664 Phase 3
16 The Effects of 8-week Choline, Betaine, and Folic Acid Supplementation on Plasma Homocysteine Concentration During Guanidinoacetic Acid Loading in Young Healthy Volunteers Completed NCT01371357 Phase 3 TEST 1;TEST 2;TEST 3;TEST 4
17 CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST) Completed NCT00032435 Phase 3 PAL-40 Active;PAL-40 Placebo
18 The Role of Vitamin B Complex as an Adjuvant Therapy for Diabetic Nephropathy in Pediatric Patients With Type 1 Diabetes Completed NCT03594240 Phase 3 Vitamin B complex tablets (Neurorubine TM -Forte Lactab TM)
19 High Dose Supplements to Reduce Homocysteine and Slow the Rate of Cognitive Decline in Alzheimer's Disease (Vitamins to Slow Alzheimer's - VITAL) Completed NCT00056225 Phase 3 Folate;Vitamin B6;Vitamin B12
20 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3 Fragmin P Forte (dalteparin sodium)
21 Vitamin B6 Effects on One-Carbon Metabolism Completed NCT01128244 Phase 2, Phase 3
22 The Effects of 12 mg/kg Intravenous Mesna on Plasma Total Homocysteine Concentration in Patients With End-stage Renal Disease Requiring Hemodialysis Completed NCT00524199 Phase 2 Mesna
23 The Effects of Medium-term Oral Guanidinoacetic Acid (GAA) Administration on Human Performance, Body Composition, and Metabolic Outcomes in Physically Active Men and Women Completed NCT01133899 Phase 1, Phase 2
24 Effectiveness of a Micronutrient Supplement to Lower Plasma Homocysteine in Non-pregnant Women of Reproductive Age Completed NCT03431597 Phase 2
25 Vitamin D Deficiency Treatment Outcomes on Inflammation, Endothelial Function and Ventricular Retrieval After Non ST-Segment Elevation Myocardial Infarction: A Randomized Placebo Controlled Clinical Trial (NAVID Study) Recruiting NCT03405207 Phase 2 Vitamin D3 50000 UNT Oral Capsule;Placebo oral capsule
26 Oral or Enteral Administration of Methionine in Patients With Pulmonary Alveolar Proteinosis by Mutation of the MARS Gene. Not yet recruiting NCT03887169 Phase 1, Phase 2 Methionine;Vitamin B12, B9, B6, C supplementation
27 Effect of Oral S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine in Human Subjects Completed NCT00473200 Phase 1
28 Does Folinic Acid Supplementation Decrease Homocysteine Concentrations in Newborns Completed NCT00877227 Phase 1 5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)
29 Hyperhomocysteinemia in a Mild Cognitive Impairment and Dementia Population: the Effect of Treatment With Cerefolin NAC® in a Naturalistic Community-based Dementia Practice Unknown status NCT01594541
30 Serum Markers of OS, Inflammation, and EDCs and Impact on the Menstrual Cycle and Reproductive Hormone in Taiwanese Women Unknown status NCT01996631
31 Comparison of Vitamin B12 Supplementation and SSRI to SSRI Monotherapy in Treating Depression With Low Normal B12: A Randomized Open Label trialComparison of Vitamin B12 Supplementation to SSRI Versus SSRI Antidepressant Treatment Alone Unknown status NCT00939718
32 Effects of Vitamin Supplementation and Strength Training in Parkinson's Disease Unknown status NCT01238926
33 Plasma Homocysteine Distribution in the United States Completed NCT00005483
34 Prevalence Of Hyperhomocysteinemia In Thai CKD Patients And Relationship To Cardiovascular Events: Subgroup Analysis From Thai SEEK Study Completed NCT01391416
35 Folic Acid Administration Reduces the Progression of Microalbuminuria Completed NCT00737126 Folic acid;Placebo
36 Effect of Cerefolin®/CerefolinNAC® on Biomarker Measurements in Patients With Mild Cognitive Impairment, Alzheimer's Disease and Related Disorders Completed NCT01745198
37 To Critically Investigate and Evaluate Supplementary Vitamin B12 Effects on Elevated Homocysteine Levels of Vegetarians, Who May Have a Resultant Susceptibility to Hyperhomocysteinemia Related Diseases. Completed NCT01661309
38 Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis Completed NCT00004495 cyanocobalamin;folic acid;pyridoxine
39 Effects of Oral Supplementation With Creatine on Plasma Homocysteine Levels and Systemic Microvascular Endothelial Function in Vegetarian Individuals Completed NCT02961972
40 Guanidinoacetic Acid With Creatine Compared With Creatine Alone for Tissue Bioenergetics, Hyperhomocysteinemia and Exercise Performance: a Randomized Double-blind Superiority Trial Completed NCT03350282
41 Effect of a Dietary Supplement on Endothelial Function in Volunteers With Light to Moderate Hypertension - a Randomised, Double-blind, Placebo Controlled Cross-over Study Completed NCT02392767
42 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
43 Plasma Cobalamin, Folate, Pyridoxine and Homocysteine Levels and Thrombosis in Patients With Philadelphia-chromosome-negative Myeloproliferative Neoplasms Completed NCT01878916
44 Effect of 1 Year Vitamin D or D Plus B-vitamins on Bone Markers in Elderly People Completed NCT02586181
45 Methylation Biosignature in Childhood Chronic Kidney Disease: the Link Among Asymmetric Dimethylarginine, Homocysteine, and Cardiovascular Disease Completed NCT02022046
46 Role of Systemic Inflammation in Increase of Cardio-vascular Risk in Chronic Obstructive Pulmonary Disease Completed NCT02888886
47 To Association of Serum Ferrtin and Homocysteine Levels With Insulin Resistence and Metabolic Syndrome in Women With Polycystic Ovary Syndrome Completed NCT01600833
48 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients Completed NCT00626223 5-MTHF (5-methyltetrahydrofolate);folic acid
49 Arterial Endothelial Function--An Epidemiologic Study Completed NCT00005545
50 Epidemiology of Venous Thromboembolism Completed NCT00041457

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
Sources

Anatomical Context for Homocysteinemia

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MalaCards organs/tissues related to Homocysteinemia:

41
Endothelial, Heart, Kidney, Brain, Liver, Bone, Testes
Sources

Publications for Homocysteinemia

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Articles related to Homocysteinemia:

(show top 50) (show all 5669)
# Title Authors PMID Year
1
Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways. 9 38 8
11375416 2001
2
B-vitamin deficiency causes hyperhomocysteinemia and vascular cognitive impairment in mice. 38 8
18711131 2008
3
Hyperhomocysteinemia and low methionine stress are risk factors for central retinal venous occlusion in an Indian population. 38 8
17389469 2007
4
Association of neovascular age-related macular degeneration and hyperhomocysteinemia. 38 8
14700648 2004
5
Hyperhomocysteinemia in Asian Indians living in the United States. 38 8
12629089 2003
6
The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with retinal artery occlusion. 38 8
12095808 2002
7
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. 38 8
11181567 2001
8
The graded effect of hyperhomocysteinemia on the severity and extent of coronary atherosclerosis. 38 8
10559524 1999
9
Hyperhomocysteinemia--a risk factor for abruptio placentae. 38 8
9266355 1997
10
Prevalence of familial mild hyperhomocysteinemia. 38 8
8831929 1996
11
Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. 38 8
8592549 1996
12
Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. 38 8
7816063 1995
13
Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. 38 8
8224267 1993
14
Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. 38 8
8236162 1993
15
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. 38 8
5792556 1969
16
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. 8
20154341 2010
17
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. 8
18708589 2008
18
Homocysteine levels--before and after methionine loading--in 51 Dutch families. 8
15756298 2005
19
Homocysteine levels and the risk of osteoporotic fracture. 8
15141041 2004
20
Homocysteine as a predictive factor for hip fracture in older persons. 8
15141042 2004
21
Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography. 8
12189485 2002
22
Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. 8
11844848 2002
23
Decreased rate of coronary restenosis after lowering of plasma homocysteine levels. 8
11757505 2001
24
Reduction of plasma homocyst(e)ine levels by breakfast cereal fortified with folic acid in patients with coronary heart disease. 8
9535664 1998
25
Homocysteine and atherothrombosis. 8
9535670 1998
26
Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. 8
8986792 1996
27
N-acetylcysteine treatment lowers plasma homocysteine but not serum lipoprotein(a) levels. 8
8929261 1996
28
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. 8
8554053 1996
29
Plasma homocyst(e)ine or homocysteine? 8
7596391 1995
30
Can lowering homocysteine levels reduce cardiovascular risk? 8
7654269 1995
31
High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. 8
8018663 1994
32
Promotion of vascular smooth muscle cell growth by homocysteine: a link to atherosclerosis. 8
8022789 1994
33
Role of plasma homocyst(e)ine in arterial occlusive diseases. 8
8087977 1994
34
Plasma homocyst(e)ine as a risk factor for early familial coronary artery disease. 8
8149609 1994
35
Homocysteine, a thrombogenic agent, suppresses anticoagulant heparan sulfate expression in cultured porcine aortic endothelial cells. 8
8376590 1993
36
Homocysteine, a risk factor for premature vascular disease and thrombosis, induces tissue factor activity in endothelial cells. 8
8364016 1993
37
Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae. 8
1349147 1992
38
Prevalence of familial hyperhomocyst(e)inemia in men with premature coronary artery disease. 8
1911700 1991
39
Does Down syndrome support homocysteine theory of arteriosclerosis? 8
2880201 1987
40
Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease. 8
3700650 1986
41
Cloning and screening with nanogram amounts of immunopurified mRNAs: cDNA cloning and chromosomal mapping of cystathionine beta-synthase and the beta subunit of propionyl-CoA carboxylase. 8
3457373 1986
42
Homocysteic acid: an examination of its possible growth hormone-like activity. 8
759827 1979
43
Down's syndrome: an atheroma-free model? 8
141966 1977
44
Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis. 8
821969 1976
45
The pathogenesis of coronary artery disease. A possible role for methionine metabolism. 8
947949 1976
46
The nutrigenetics of hyperhomocysteinemia: quantitative proteomics reveals differences in the methionine cycle enzymes of gene-induced versus diet-induced hyperhomocysteinemia. 9 38
20008833 2010
47
Differences in betaine-homocysteine methyltransferase expression, endoplasmic reticulum stress response, and liver injury between alcohol-fed mice and rats. 9 38
20069651 2010
48
Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait. 9 38
19940469 2010
49
Inactivation of cystathionine beta-synthase with peroxynitrite. 9 38
19733148 2009
50
[Thrombophilia, preeclampsia and other pregnancy complications]. 9 38
20034330 2009
Sources

Variations for Homocysteinemia

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ClinVar genetic disease variations for Homocysteinemia:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CBS NM_000071.2(CBS): c.770C> T (p.Thr257Met) single nucleotide variant Conflicting interpretations of pathogenicity rs758236584 21:44484068-44484068 21:43063958-43063958
Sources

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 16)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.88 SLC19A1 NOS3 MTRR MTR MTHFR MMACHC
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.44 SLC19A1 MTRR MTR MTHFR MMACHC
3
Carbon metabolism 37
Show member pathways
 12.1 MTR MTHFR CTH CBS
4
Formation of Fibrin Clot (Clotting Cascade) 66
Show member pathways
 11.87 SERPINE1 SERPINC1 F5 F2
5
Complement and coagulation cascades 37 1
11.77 SERPINE1 SERPINC1 F5 F2
6
Sulfur amino acid metabolism 66
Show member pathways
 11.73 MTRR MTR CTH CBS BHMT AHCY
7
Diseases of metabolism 66
Show member pathways
 11.67 MTRR MTR MMACHC
8
Selenium Micronutrient Network 1
Show member pathways
 11.66 SLC19A1 SERPINE1 MTRR MTR MTHFR F2
9
Amino Acid metabolism 1
11.65 CTH CBS BHMT
10
One carbon pool by folate 37
Show member pathways
 11.65 MTRR MTR MTHFR CTH CBS BHMT
11
Glycine, serine and threonine metabolism 37
Show member pathways
 11.35 CTH CBS BHMT
12
Vitamin digestion and absorption 37
10.94 SLC19A1 MMACHC
13
Selenocompound metabolism 37
10.78 MTR CTH
14
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.76 MTRR MTR MMACHC
15
Folate-Alcohol and Cancer Pathway 1
10.4 MTHFR CBS
16
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 66
Show member pathways
 10.01 MTRR MTR
Sources

GO Terms for Homocysteinemia

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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 NOS3 MTRR MTHFR MMACHC CBS
2 hemostasis GO:0007599 9.67 SERPINC1 F5 F2
3 one-carbon metabolic process GO:0006730 9.6 MTHFR AHCY
4 fibrinolysis GO:0042730 9.59 SERPINE1 F2
5 regulation of blood coagulation GO:0030193 9.58 SERPINC1 F2
6 positive regulation of blood coagulation GO:0030194 9.57 SERPINE1 F2
7 negative regulation of fibrinolysis GO:0051918 9.56 SERPINE1 F2
8 negative regulation of platelet activation GO:0010544 9.55 NOS3 F2
9 cysteine biosynthetic process GO:0019344 9.54 CTH CBS
10 S-adenosylmethionine metabolic process GO:0046500 9.52 MTHFR BHMT
11 methionine metabolic process GO:0006555 9.51 MTRR MTHFR
12 cobalamin metabolic process GO:0009235 9.5 MTRR MTR MMACHC
13 transsulfuration GO:0019346 9.48 CTH CBS
14 sulfur amino acid metabolic process GO:0000096 9.46 BHMT AHCY
15 cellular amino acid biosynthetic process GO:0008652 9.46 MTRR MTR CTH CBS
16 hydrogen sulfide biosynthetic process GO:0070814 9.43 CTH CBS
17 folic acid metabolic process GO:0046655 9.43 SLC19A1 MTRR MTHFR
18 homocysteine catabolic process GO:0043418 9.4 MTRR CBS
19 cysteine biosynthetic process via cystathionine GO:0019343 9.37 CTH CBS
20 homocysteine metabolic process GO:0050667 9.13 MTRR MTHFR CBS
21 methionine biosynthetic process GO:0009086 8.92 MTRR MTR MTHFR BHMT

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 NOS3 MTRR MTHFR
2 FMN binding GO:0010181 9.4 NOS3 MTRR
3 cobalamin binding GO:0031419 9.37 MTR MMACHC
4 NADPH-hemoprotein reductase activity GO:0003958 9.26 NOS3 MTRR
5 modified amino acid binding GO:0072341 9.16 MTHFR CBS
6 NADP binding GO:0050661 9.13 NOS3 MTRR MTHFR
7 FAD binding GO:0071949 8.8 MTRR MTHFR MMACHC
Sources

Sources for Homocysteinemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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