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MCID: HMC014
MIFTS: 53

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 56 52 54 71
Hyperhomocysteinemia 56 12 74 29 54 6 43 15 71

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 56 603174
MeSH 43 D020138
NCIt 49 C84770
MedGen 41 C3495426
UMLS 71 C0598608 C3495426
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Summaries for Homocysteinemia

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OMIM : 56 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 Response to elevated platelet cytosolic Ca2+ 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 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 : 74 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 637)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 34.0 MTR MTHFR
2 homocystinuria 32.3 SERPINC1 MTRR MTR MTHFR MMACHC FBN1
3 methylmalonic acidemia 31.3 MTRR MTR MTHFR MMACHC
4 vitamin b12 deficiency 31.2 MTR MTHFR MMACHC
5 choline deficiency disease 31.0 MTR MTHFR BHMT
6 disorders of intracellular cobalamin metabolism 31.0 MTRR MTR MMACHC
7 central retinal vein occlusion 30.9 SERPINC1 MTHFR F5 F2 APOH
8 retinal vascular disease 30.9 NOS3 MTHFR CRP ALB
9 carotid stenosis 30.8 NOS3 MTHFR CRP
10 branch retinal artery occlusion 30.8 SERPINC1 MTHFR F2 CRP
11 megaloblastic anemia 30.8 MTRR MTR MTHFR
12 neural tube defects, folate-sensitive 30.8 MTRR MTR MTHFR
13 retinal vein occlusion 30.7 SERPINE1 SERPINC1 MTHFR F5 F2 APOH
14 prothrombin-related thrombophilia 30.7 MTHFR F2
15 methylmalonic aciduria and homocystinuria, cblc type 30.7 MTR MMACHC CBS
16 amaurosis fugax 30.7 SERPINE1 MTHFR F5
17 pyridoxine deficiency anemia 30.7 F2 CBS
18 lens subluxation 30.7 MTHFR FBN1 CBS
19 coronary heart disease 1 30.7 SERPINE1 NOS3 MTHFR H19 CRP
20 arteries, anomalies of 30.6 SERPINE1 NOS3 CRP ALB
21 carotid artery thrombosis 30.6 SERPINE1 SERPINC1 NOS3
22 placenta disease 30.6 SERPINC1 MTHFR F5 F2 CRP APOH
23 marantic endocarditis 30.6 SERPINC1 MTHFR F2 CRP
24 purpura 30.6 SERPINC1 F2 CRP APOH
25 cleft lip 30.6 SLC19A1 MTRR MTR MTHFR
26 intermediate coronary syndrome 30.5 SERPINC1 CRP ALB
27 arteriosclerosis 30.5 SERPINE1 SERPINC1 NOS3 FBN1 ELN CRP
28 livedoid vasculitis 30.5 SERPINE1 SERPINC1 MTHFR F2
29 inherited metabolic disorder 30.4 NOS3 MTHFR F2 CRP ALB
30 cerebrovascular disease 30.4 SERPINE1 MTR MTHFR F5 F2 CRP
31 limb ischemia 30.4 SERPINE1 NOS3 F2
32 neonatal stroke 30.4 SERPINE1 MTHFR
33 budd-chiari syndrome 30.4 SERPINC1 MTHFR F5 F2 APOH
34 aortic aneurysm, familial abdominal, 1 30.4 H19 FBN1 ELN CRP
35 exfoliation syndrome 30.4 MTHFR FBN1 ELN
36 sickle cell anemia 30.4 NOS3 MTHFR F2 ALB
37 portal vein thrombosis 30.3 SERPINE1 SERPINC1 MTHFR F5 F2 CRP
38 down syndrome 30.3 SLC19A1 MTRR MTR MTHFR CBS
39 hypermethioninemia 30.3 CTH CBS BHMT AHCY
40 nutritional deficiency disease 30.3 MTHFR F2 CRP ALB
41 central retinal artery occlusion 30.3 SERPINC1 F2 CRP
42 methotrexate toxicity 30.3 SLC19A1 MTRR MTR MTHFR
43 pregnancy loss, recurrent 1 30.3 MTHFR F5 APOH
44 kidney cortex necrosis 30.3 MMACHC F2
45 retinal artery occlusion 30.3 SERPINE1 SERPINC1 MTHFR F5 F2 APOH
46 coronary stenosis 30.3 SERPINE1 CRP ALB
47 myelomeningocele 30.3 SLC19A1 MTRR MTR MTHFR
48 eclampsia 30.2 SERPINE1 SERPINC1 NOS3 MTHFR F2 ALB
49 antiphospholipid syndrome 30.2 SERPINE1 SERPINC1 MTHFR F5 F2 CRP
50 thrombophilia due to thrombin defect 30.2 SERPINE1 SERPINC1 MTHFR F5 F2 APOH

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 ALB APOH BHMT CRP CTH F2
2 liver/biliary system MP:0005370 9.81 ALB BHMT CTH F5 MTHFR NOS3
3 mortality/aging MP:0010768 9.8 AHCY ALB APOH CTH F2 F5
4 renal/urinary system MP:0005367 9.28 ALB BHMT CTH FBN1 MMACHC NOS3
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 141)
# 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 Adrenergic beta-Antagonists Phase 4
12 Adrenergic Antagonists Phase 4
13 Natriuretic Agents Phase 4
14 Sodium Chloride Symporter Inhibitors Phase 4
15 Adrenergic Agents Phase 4
16 diuretics Phase 4
17 Hypolipidemic Agents Phase 4
18 Vitamin B 6 Phase 4
19 Lipid Regulating Agents Phase 4
20 Antimetabolites Phase 4
21 Vasodilator Agents Phase 4
22 Analgesics Phase 4
23 Anesthetics Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Anesthetics, General Phase 4
26 Anesthetics, Inhalation Phase 4
27 Central Nervous System Depressants Phase 4
28 Omega 3 Fatty Acid Phase 4
29 Vitamin B3 Phase 4
30 Nicotinic Acids Phase 4
31
Pyridoxal Experimental, Nutraceutical Phase 4 66-72-8 1050
32
Methylcobalamin Approved, Investigational Phase 3 13422-55-4
33
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 15589840
34
Hydroquinone Approved, Investigational Phase 3 123-31-9 785
35
Sodium citrate Approved, Investigational Phase 3 68-04-2
36
Tocopherol Approved, Investigational Phase 3 1406-66-2, 54-28-4 14986
37
Dalteparin Approved Phase 3 9005-49-6
38
Heparin Approved, Investigational Phase 3 9005-49-6 772 46507594
39
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
40
Betaine Approved, Nutraceutical Phase 3 107-43-7 247
41
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
42
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
43
Choline Approved, Nutraceutical Phase 3 62-49-7 305
44
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
45
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
46
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
47
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 70-16-6, 59-43-8 1130
48
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 3 83-88-5 493570
49
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
50
Cobalamin Experimental Phase 3 13408-78-1 6857388

Interventional clinical trials:

(show top 50) (show all 69)
# 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 Vitamin B6 Effects on One-Carbon Metabolism Completed NCT01128244 Phase 2, Phase 3
21 Phase III Study Analyzing the Effectiveness of Dalteparin Therapy as Intervention in Recurrent Pregnancy Loss Completed NCT00400387 Phase 3 Fragmin P Forte (dalteparin sodium)
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 Effectiveness of a Micronutrient Supplement to Lower Plasma Homocysteine in Non-pregnant Women of Reproductive Age Completed NCT03431597 Phase 2
24 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
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 Can Levothyroxine Treatment Reduce the Development of Cardio-metabolic Disorder in Subclinical Hypothyroidism? Not yet recruiting NCT04178928 Phase 1, Phase 2 Levothyroxine
27 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
28 Effect of Oral S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine in Human Subjects Completed NCT00473200 Phase 1
29 Does Folinic Acid Supplementation Decrease Homocysteine Concentrations in Newborns Completed NCT00877227 Phase 1 5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)
30 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
31 Effect of Phosphorus on Valvular and Vascular Calcification in ESRD Unknown status NCT03360331
32 Serum Markers of OS, Inflammation, and EDCs and Impact on the Menstrual Cycle and Reproductive Hormone in Taiwanese Women Unknown status NCT01996631
33 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
34 Effects of Vitamin Supplementation and Strength Training in Parkinson's Disease Unknown status NCT01238926
35 Plasma Homocysteine Distribution in the United States Completed NCT00005483
36 Prevalence Of Hyperhomocysteinemia In Thai CKD Patients And Relationship To Cardiovascular Events: Subgroup Analysis From Thai SEEK Study Completed NCT01391416
37 Folic Acid Administration Reduces the Progression of Microalbuminuria Completed NCT00737126 Folic acid;Placebo
38 Effect of Cerefolin®/CerefolinNAC® on Biomarker Measurements in Patients With Mild Cognitive Impairment, Alzheimer's Disease and Related Disorders Completed NCT01745198
39 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
40 Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis Completed NCT00004495 cyanocobalamin;folic acid;pyridoxine
41 Effects of Oral Supplementation With Creatine on Plasma Homocysteine Levels and Systemic Microvascular Endothelial Function in Vegetarian Individuals Completed NCT02961972
42 Guanidinoacetic Acid With Creatine Compared With Creatine Alone for Tissue Bioenergetics, Hyperhomocysteinemia and Exercise Performance: a Randomized Double-blind Superiority Trial Completed NCT03350282
43 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
44 Human Lipoprotein Pathophysiology - Subproject: Genetics of Familial Combined Hyperlipidemia Completed NCT00005313
45 Plasma Cobalamin, Folate, Pyridoxine and Homocysteine Levels and Thrombosis in Patients With Philadelphia-chromosome-negative Myeloproliferative Neoplasms Completed NCT01878916
46 Effect of 1 Year Vitamin D or D Plus B-vitamins on Bone Markers in Elderly People Completed NCT02586181
47 Role of Systemic Inflammation in Increase of Cardio-vascular Risk in Chronic Obstructive Pulmonary Disease Completed NCT02888886
48 Methylation Biosignature in Childhood Chronic Kidney Disease: the Link Among Asymmetric Dimethylarginine, Homocysteine, and Cardiovascular Disease Completed NCT02022046
49 To Association of Serum Ferrtin and Homocysteine Levels With Insulin Resistence and Metabolic Syndrome in Women With Polycystic Ovary Syndrome Completed NCT01600833
50 5-Methyltetrahydrofolate Survival and Inflammation in ESRD Patients Completed NCT00626223 5-MTHF (5-methyltetrahydrofolate);folic acid

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:

40
Endothelial, Heart, Kidney, Brain, Liver, Bone, Testes
Sources

Publications for Homocysteinemia

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Articles related to Homocysteinemia:

(show top 50) (show all 5766)
# Title Authors PMID Year
1
Homocysteine-induced endoplasmic reticulum stress causes dysregulation of the cholesterol and triglyceride biosynthetic pathways. 54 61 56
11375416 2001
2
ACMG Practice Guideline: lack of evidence for MTHFR polymorphism testing. 61 6
23288205 2013
3
B-vitamin deficiency causes hyperhomocysteinemia and vascular cognitive impairment in mice. 61 56
18711131 2008
4
Hyperhomocysteinemia and low methionine stress are risk factors for central retinal venous occlusion in an Indian population. 61 56
17389469 2007
5
Association of neovascular age-related macular degeneration and hyperhomocysteinemia. 61 56
14700648 2004
6
Hyperhomocysteinemia in Asian Indians living in the United States. 61 56
12629089 2003
7
The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with retinal artery occlusion. 61 56
12095808 2002
8
Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. 61 56
11181567 2001
9
The graded effect of hyperhomocysteinemia on the severity and extent of coronary atherosclerosis. 61 56
10559524 1999
10
Hyperhomocysteinemia--a risk factor for abruptio placentae. 61 56
9266355 1997
11
Prevalence of familial mild hyperhomocysteinemia. 61 56
8831929 1996
12
Hyperhomocysteinemia as a risk factor for deep-vein thrombosis. 61 56
8592549 1996
13
Association between plasma homocysteine concentrations and extracranial carotid-artery stenosis. 61 56
7816063 1995
14
Hyperhomocysteinemia: a risk factor in women with unexplained recurrent early pregnancy loss. 61 56
8224267 1993
15
Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. 61 56
8236162 1993
16
Vascular pathology of homocysteinemia: implications for the pathogenesis of arteriosclerosis. 61 56
5792556 1969
17
Genome-wide association study of homocysteine levels in Filipinos provides evidence for CPS1 in women and a stronger MTHFR effect in young adults. 56
20154341 2010
18
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 6
20298421 2010
19
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans. 56
18708589 2008
20
Homocysteine levels--before and after methionine loading--in 51 Dutch families. 56
15756298 2005
21
Homocysteine levels and the risk of osteoporotic fracture. 56
15141041 2004
22
Homocysteine as a predictive factor for hip fracture in older persons. 56
15141042 2004
23
Major gene evidence after MTHFR-segregation analysis of serum homocysteine in families of patients undergoing coronary arteriography. 56
12189485 2002
24
Plasma homocysteine as a risk factor for dementia and Alzheimer's disease. 56
11844848 2002
25
Decreased rate of coronary restenosis after lowering of plasma homocysteine levels. 56
11757505 2001
26
Reduction of plasma homocyst(e)ine levels by breakfast cereal fortified with folic acid in patients with coronary heart disease. 56
9535664 1998
27
Homocysteine and atherothrombosis. 56
9535670 1998
28
Homocysteine induces congenital defects of the heart and neural tube: effect of folic acid. 56
8986792 1996
29
N-acetylcysteine treatment lowers plasma homocysteine but not serum lipoprotein(a) levels. 56
8929261 1996
30
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. 56
8554053 1996
31
Plasma homocyst(e)ine or homocysteine? 56
7596391 1995
32
Can lowering homocysteine levels reduce cardiovascular risk? 56
7654269 1995
33
Promotion of vascular smooth muscle cell growth by homocysteine: a link to atherosclerosis. 56
8022789 1994
34
High prevalence of hyperhomocyst(e)inemia in patients with juvenile venous thrombosis. 56
8018663 1994
35
Role of plasma homocyst(e)ine in arterial occlusive diseases. 56
8087977 1994
36
Plasma homocyst(e)ine as a risk factor for early familial coronary artery disease. 56
8149609 1994
37
Homocysteine, a thrombogenic agent, suppresses anticoagulant heparan sulfate expression in cultured porcine aortic endothelial cells. 56
8376590 1993
38
Homocysteine, a risk factor for premature vascular disease and thrombosis, induces tissue factor activity in endothelial cells. 56
8364016 1993
39
Hyperhomocysteinaemia and recurrent spontaneous abortion or abruptio placentae. 56
1349147 1992
40
Prevalence of familial hyperhomocyst(e)inemia in men with premature coronary artery disease. 56
1911700 1991
41
Does Down syndrome support homocysteine theory of arteriosclerosis? 56
2880201 1987
42
Protein-bound homocyst(e)ine. A possible risk factor for coronary artery disease. 56
3700650 1986
43
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. 56
3457373 1986
44
Homocysteic acid: an examination of its possible growth hormone-like activity. 56
759827 1979
45
Down's syndrome: an atheroma-free model? 56
141966 1977
46
Homocystine-induced arteriosclerosis. The role of endothelial cell injury and platelet response in its genesis. 56
821969 1976
47
The pathogenesis of coronary artery disease. A possible role for methionine metabolism. 56
947949 1976
48
The nutrigenetics of hyperhomocysteinemia: quantitative proteomics reveals differences in the methionine cycle enzymes of gene-induced versus diet-induced hyperhomocysteinemia. 54 61
20008833 2010
49
Differences in betaine-homocysteine methyltransferase expression, endoplasmic reticulum stress response, and liver injury between alcohol-fed mice and rats. 54 61
20069651 2010
50
Hypercoagulable state and methylenetetrahydrofolate reductase (MTHFR) C677T mutation in patients with beta-thalassemia major in Kuwait. 54 61
19940469 2010
Sources

Variations for Homocysteinemia

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ClinVar genetic disease variations for Homocysteinemia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CBS NM_000071.2(CBS):c.770C>T (p.Thr257Met)SNV Conflicting interpretations of pathogenicity 188927 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 14)
# Super pathways Score Top Affiliating Genes
1
Response to elevated platelet cytosolic Ca2+ 65
Show member pathways
 13.13 SERPINE1 SERPINC1 NOS3 F5 F2 APOH
2
Metabolism of water-soluble vitamins and cofactors 65
Show member pathways
 12.46 SLC19A1 MTRR MTR MTHFR MMACHC
3
Carbon metabolism 36
Show member pathways
 12.12 MTR MTHFR CTH CBS
4
Formation of Fibrin Clot (Clotting Cascade) 65
Show member pathways
 11.91 SERPINE1 SERPINC1 F5 F2
5
Complement and coagulation cascades 1 36
11.78 SERPINE1 SERPINC1 F5 F2
6
Sulfur amino acid metabolism 65
Show member pathways
 11.73 MTRR MTR CTH CBS BHMT AHCY
7
Folate Metabolism 1
Show member pathways
 11.7 SLC19A1 SERPINE1 MTRR MTR MTHFR F2
8
Diseases of metabolism 65
Show member pathways
 11.68 MTRR MTR MMACHC
9
Amino Acid metabolism 1
11.66 CTH CBS BHMT
10
One carbon pool by folate 36
Show member pathways
 11.65 MTRR MTR MTHFR CTH CBS BHMT
11
Glycine, serine and threonine metabolism 36
Show member pathways
 11.32 CTH CBS BHMT
12
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.76 MTRR MTR MMACHC
13
Folate-Alcohol and Cancer Pathway 1
10.38 MTHFR CBS
14
Defective MTRR causes methylmalonic aciduria and homocystinuria type cblE 65
Show member pathways
 9.97 MTRR MTR
Sources

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 extracellular space GO:0005615 9.92 SERPINE1 SERPINC1 FBN1 F5 F2 CRP
2 extracellular region GO:0005576 9.91 SERPINE1 SERPINC1 FBN1 F5 F2 ELN
3 endoplasmic reticulum lumen GO:0005788 9.35 SERPINC1 FBN1 F5 F2 ALB
4 platelet alpha granule lumen GO:0031093 9.33 SERPINE1 F5 ALB
5 collagen-containing extracellular matrix GO:0062023 9.1 SERPINE1 SERPINC1 FBN1 F2 ELN APOH

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 methylation GO:0032259 9.9 MTRR MTR BHMT AHCY
2 cellular protein metabolic process GO:0044267 9.88 SERPINC1 FBN1 F5 F2 ALB
3 platelet degranulation GO:0002576 9.8 SERPINE1 F5 APOH ALB
4 hemostasis GO:0007599 9.76 SERPINC1 F5 F2
5 cobalamin metabolic process GO:0009235 9.63 MTRR MTR MMACHC
6 negative regulation of platelet activation GO:0010544 9.61 NOS3 F2
7 folic acid metabolic process GO:0046655 9.61 SLC19A1 MTRR MTHFR
8 methionine metabolic process GO:0006555 9.59 MTRR MTHFR
9 S-adenosylmethionine metabolic process GO:0046500 9.58 MTHFR BHMT
10 positive regulation of blood coagulation GO:0030194 9.58 SERPINE1 F2 APOH
11 transsulfuration GO:0019346 9.57 CTH CBS
12 hydrogen sulfide biosynthetic process GO:0070814 9.56 CTH CBS
13 cellular amino acid biosynthetic process GO:0008652 9.56 MTRR MTR CTH CBS
14 S-adenosylmethionine cycle GO:0033353 9.55 MTRR AHCY
15 cysteine biosynthetic process GO:0019344 9.54 CTH CBS
16 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 APOH
17 homocysteine catabolic process GO:0043418 9.52 MTRR CBS
18 cysteine biosynthetic process via cystathionine GO:0019343 9.51 CTH CBS
19 negative regulation of fibrinolysis GO:0051918 9.5 SERPINE1 F2 APOH
20 homocysteine metabolic process GO:0050667 9.33 MTRR MTHFR CBS
21 methionine biosynthetic process GO:0009086 9.26 MTRR MTR MTHFR BHMT
22 sulfur amino acid metabolic process GO:0000096 8.92 MTRR MTR BHMT AHCY

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 flavin adenine dinucleotide binding GO:0050660 9.63 NOS3 MTRR MTHFR
2 heparin binding GO:0008201 9.62 SERPINC1 FBN1 F2 APOH
3 pyridoxal phosphate binding GO:0030170 9.61 CTH CBS ALB
4 cobalamin binding GO:0031419 9.49 MTR MMACHC
5 extracellular matrix constituent conferring elasticity GO:0030023 9.48 FBN1 ELN
6 NADP binding GO:0050661 9.43 NOS3 MTRR MTHFR
7 modified amino acid binding GO:0072341 9.4 MTHFR CBS
8 NADPH-hemoprotein reductase activity GO:0003958 9.37 NOS3 MTRR
9 FAD binding GO:0071949 9.33 MTRR MTHFR MMACHC
10 identical protein binding GO:0042802 9.23 SERPINC1 FBN1 CTH CRP CBS APOH
11 betaine-homocysteine S-methyltransferase activity GO:0047150 8.96 MTR BHMT
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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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