MCID: HMC014
MIFTS: 38

Homocysteinemia

Categories: Rare diseases
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Aliases & Classifications for Homocysteinemia

MalaCards integrated aliases for Homocysteinemia:

Name: Homocysteinemia 19 53 5 71
Hyperhomocysteinemia 71

Classifications:



External Ids:

UMLS 71 C0598608 C3495426

Summaries for Homocysteinemia

GARD: 19 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).

MalaCards based summary: Homocysteinemia, also known as hyperhomocysteinemia, is related to methylmalonic aciduria and homocystinuria, cblx type and homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity. An important gene associated with Homocysteinemia is MTHFR (Methylenetetrahydrofolate Reductase), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and One-carbon metabolism and related pathways. The drugs Amlodipine and Hydrochlorothiazide have been mentioned in the context of this disorder. Affiliated tissues include endothelial, kidney and heart, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Related Diseases for Homocysteinemia

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

(show top 50) (show all 235)
# Related Disease Score Top Affiliating Genes
1 methylmalonic aciduria and homocystinuria, cblx type 32.2 MTR MTHFR
2 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 32.2 MTR MTHFR
3 homocystinuria 30.9 MTRR MTR MTHFR F5 CBS
4 hyperhomocysteinemia 30.3 MTRR MTR MTHFR F5 F2 CBS
5 methylmalonic aciduria and homocystinuria, cblc type 29.9 MTR MTHFR CBS
6 amaurosis fugax 29.8 MTHFR F5
7 neural tube defects, folate-sensitive 29.8 MTRR MTR MTHFR
8 methylmalonic acidemia 29.8 MTRR MTR MTHFR CBS
9 central nervous system origin vertigo 29.7 MTHFR F2
10 livedoid vasculitis 29.7 MTHFR F2
11 transient cerebral ischemia 29.6 MTHFR F2
12 pulmonary embolism 29.6 MTHFR F5 F2
13 factor viii deficiency 29.5 F5 F2
14 aortic dissection 29.4 F2 ELN
15 vitamin b12 deficiency 29.4 MTRR MTR MTHFR CBS
16 thrombophilia due to activated protein c resistance 29.4 MTHFR F5 F2
17 stroke, ischemic 29.4 MTHFR F5 F2 CBS
18 peripheral vascular disease 29.3 MTHFR F2 CBS
19 beta-thalassemia 29.3 MTHFR F5 F2
20 thrombophilia due to thrombin defect 29.2 MTHFR F5 F2 CBS
21 patent foramen ovale 29.0 MTHFR F5 F2 ELN
22 thrombosis 29.0 MTHFR F5 F2 CBS
23 down syndrome 28.9 MTRR MTR MTHFR CBS
24 thrombophilia 28.7 MTHFR F5 F2 CBS
25 cerebral palsy 28.7 MTHFR F5 F2 CBS
26 cerebrovascular disease 28.7 MTRR MTR MTHFR F5 F2 CBS
27 vascular disease 28.6 MTRR MTR MTHFR F5 F2 ELN
28 marfan syndrome 28.6 MTRR MTR MTHFR ELN CBS
29 cardiovascular system disease 28.6 MTRR MTR MTHFR ELN CBS
30 myocardial infarction 28.5 MTR MTHFR F5 F2 ELN CBS
31 neural tube defects 28.5 MTRR MTR MTHFR F2 CBS
32 lipoprotein quantitative trait locus 28.4 MTRR MTR MTHFR F2 ELN CBS
33 heart disease 28.4 MTR MTHFR F5 F2 ELN CBS
34 arteriosclerosis 10.2
35 homocystinuria due to cystathionine beta-synthase deficiency 10.2
36 abdominal obesity-metabolic syndrome 1 10.2
37 choline deficiency disease 10.1 MTR MTHFR
38 nondisjunction 10.1 MTRR MTHFR
39 chronic kidney disease 10.1
40 ophthalmia neonatorum 10.1 MTRR MTR
41 adult acute lymphocytic leukemia 10.1 MTR MTHFR
42 urethritis 10.1 MTRR MTR
43 pregnancy loss, recurrent 1 10.1 MTHFR F5
44 atherosclerosis susceptibility 10.1
45 coronary heart disease 1 10.1
46 end stage renal disease 10.1
47 organic acidemia 10.1 MTRR MTR
48 lateral sinus thrombosis 10.1 MTHFR F2
49 branch retinal artery occlusion 10.1 MTHFR F2
50 intracranial sinus thrombosis 10.0 MTHFR F2

Graphical network of the top 20 diseases related to Homocysteinemia:



Diseases related to Homocysteinemia

Symptoms & Phenotypes for Homocysteinemia

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.8 F5 MTHFR MTR

MGI Mouse Phenotypes related to Homocysteinemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 CBS ELN F2 F5 MTHFR MTR
2 mortality/aging MP:0010768 9.17 CBS ELN F2 F5 MTHFR MTR

Drugs & Therapeutics for Homocysteinemia

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

(show top 50) (show all 67)
# 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 Calcium, Dietary Phase 4
4 Hormones Phase 4
5 calcium channel blockers Phase 4
6 Vasodilator Agents Phase 4
7 Sodium Chloride Symporter Inhibitors Phase 4
8 Adrenergic beta-Antagonists Phase 4
9 diuretics Phase 4
10
Calcium Nutraceutical Phase 4 7440-70-2 271
11
Mecobalamin Approved, Investigational Phase 3 13422-55-4
12
Hydroxocobalamin Approved Phase 3 13422-51-0 15589840 44475014
13
Hydroquinone Approved, Investigational Phase 3 123-31-9 785
14
Sodium citrate Approved, Investigational Phase 3 68-04-2 23431961
15
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 24892734 16212801 44176380
16
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
17
Betaine Approved, Investigational, Nutraceutical Phase 3 6915-17-9, 107-43-7 248
18
Creatine Approved, Investigational, Nutraceutical Phase 3 57-00-1 586
19
Ascorbic acid Approved, Nutraceutical Phase 3 50-81-7 54676860 54670067 5785
20
Citric acid Approved, Nutraceutical, Vet_approved Phase 3 77-92-9 311
21
Choline Approved, Nutraceutical Phase 3 62-49-7 305
22
Cobalamin Experimental Phase 3 13408-78-1 6857388
23 Vitamin B6 Phase 3
24 Vitamin B12 Phase 3
25 Vitamin B 6 Phase 3
26 Vitamin B 12 Phase 3
27 Citrate Phase 3
28
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
29
Flavin mononucleotide Approved, Investigational Phase 2 146-17-8 643976
30
Nicotinamide Approved, Investigational Phase 2 98-92-0 936
31
Niacin Approved, Investigational, Nutraceutical Phase 2 59-67-6 938
32
Riboflavin Approved, Investigational, Nutraceutical, Vet_approved Phase 2 83-88-5 493570
33
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 2052-63-3, 22737-97-9, 22737-96-8, 68-26-8 9904001 9947823 5280382 445354
34 Nicotinic Acids Phase 2
35 Retinol palmitate Phase 2
36 Vitamin B3 Phase 2
37
Vitamin B2 Phase 2
38 Formyltetrahydrofolates Phase 1
39 Antidotes Phase 1
40 Protective Agents Phase 1
41 Pharmaceutical Solutions Phase 1
42
Acetylcysteine Approved, Investigational 616-91-1 581 12035
43
Memantine Approved, Investigational 41100-52-1, 19982-08-2 4054
44
Quinidine Approved, Investigational 56-54-2, 130-95-0, 804-63-7 1065 441074 3034034 8549
45
Dextromethorphan Approved 125-71-3 5362449 5360696
46
Phylloquinone Approved, Investigational 572-96-3, 84-80-0 5280585 5284607
47
Zinc cation Approved, Experimental, Investigational 7440-66-6, 23713-49-7 32051
48
Cholecalciferol Approved, Nutraceutical, Vet_approved 67-97-0, 1406-16-2 5280795 10883523
49
Menadione Approved, Nutraceutical 58-27-5 4055
50
Lipoic acid Approved, Investigational, Nutraceutical 1077-27-6, 1200-22-2 864 445125 6112

Interventional clinical trials:

(show all 31)
# Name Status NCT ID Phase Drugs
1 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
2 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
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 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
5 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
6 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
7 CSP #453 - Homocysteinemia in Kidney and Endstage Renal Disease Study (HOST) Completed NCT00032435 Phase 3 PAL-40 Active;PAL-40 Placebo
8 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
9 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
10 Effectiveness of a Micronutrient Supplement to Lower Plasma Homocysteine in Non-pregnant Women of Reproductive Age Completed NCT03431597 Phase 2
11 Effect of Oral S-adenosylmethionine (SAMe) on Blood Levels of Homocysteine in Human Subjects Completed NCT00473200 Phase 1
12 Does Folinic Acid Supplementation Decrease Homocysteine Concentrations in Newborns Completed NCT00877227 Phase 1 5-formyltetrahydrofolate (10 mg/ml) (Pharmachemie bv)
13 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
14 The Effects of Vitamin Supplementation Containing L-Methylfolate (Ocufolin® Forte) on Retinal Venous Pressure and Homocysteine Plasma Levels in Patients With Glaucoma Completed NCT05080153
15 Prevalence Of Hyperhomocysteinemia In Thai CKD Patients And Relationship To Cardiovascular Events: Subgroup Analysis From Thai SEEK Study Completed NCT01391416
16 Randomized Study of Folic Acid Therapy for Hyperhomocysteinemia in Patients With End Stage Renal Disease Receiving Hemodialysis Completed NCT00004495 cyanocobalamin;folic acid;pyridoxine
17 Guanidinoacetic Acid With Creatine Compared With Creatine Alone for Tissue Bioenergetics, Hyperhomocysteinemia and Exercise Performance: a Randomized Double-blind Superiority Trial Completed NCT03350282
18 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
19 Folic Acid Administration Reduces the Progression of Microalbuminuria Completed NCT00737126 Folic acid;Placebo
20 The Dual Impact of Homocysteine and Cholesterol on Cognitive Functions Completed NCT03631238
21 Investigation the Incidence of Methylenetetrahydrofolate Reductase Deficiency in Ischemic Cerebrovascular Diseases Presenting With Epileptic Seizures in Adults Completed NCT04287881
22 5-methyltetrahydrofolate Survival and Inflammation in ESRD Patients Completed NCT00626223 5-MTHF (5-methyltetrahydrofolate);folic acid
23 Plasma Homocysteine Distribution in the United States Completed NCT00005483
24 Homocysteine and Progression of Atherosclerosis Completed NCT00005338
25 Effects of Oral Supplementation With Creatine on Plasma Homocysteine Levels and Systemic Microvascular Endothelial Function in Vegetarian Individuals Completed NCT02961972
26 Homocyst(e)Ine, Vitamin Status, and CVD Risk Completed NCT00005482
27 Retrospective Analysis of the Comparative Effectiveness of MCI and Dementia Treatment Protocols in a Community-based Specialty Dementia Practice Completed NCT02860338
28 Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients Completed NCT02540642
29 Cross-sectional Study of the Association of Muscle Strength, Tinetti Test (POMA) Scores and Other Predictor Variables With Serum Vitamin Levels (Vitamin B12, Vitamin D and Folate) in Elderly Patients With Type 2 Diabetes Mellitus Completed NCT03376490
30 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
31 Supplementation of Compound Nutrients on Plasma Homocysteine in Chinese Adults With Hyperhomocysteinemia: a Randomized Double-blind Control Trial Not yet recruiting NCT03720249

Search NIH Clinical Center for Homocysteinemia

Genetic Tests for Homocysteinemia

Anatomical Context for Homocysteinemia

Organs/tissues related to Homocysteinemia:

MalaCards : Endothelial, Kidney, Heart, Smooth Muscle, Liver, Ovary, Bone

Publications for Homocysteinemia

Articles related to Homocysteinemia:

(show top 50) (show all 587)
# Title Authors PMID Year
1
[Effect of polymorphisms on key enzymes in homocysteine metabolism, on plasma homocysteine level and on coronary artery-disease risk in a Tunisian population]. 53 62
18620331 2008
2
Ocular vascular thrombotic events: central retinal vein and central retinal artery occlusions. 53 62
18160589 2008
3
Protective effect against alcohol dependence of the thermolabile variant of MTHFR. 53 62
18328637 2008
4
Off-pump coronary artery bypass graft surgery after stent implantation in a patient with combined thrombophilic risk factors. 53 62
17985012 2007
5
Hyperhomocysteinemia: clinical and therapeutical involvement in venous thrombosis. 53 62
18333369 2007
6
MTHFR gene polymorphism and diabetic retinopathy. 53 62
18220649 2006
7
Serum homocysteine, folate level and methylenetetrahydrofolate reductase 677, 1298 gene polymorphism in Korean schizophrenic patients. 53 62
16641680 2006
8
[Homocysteinemia and its relationship with the methylentetrahydrofolate reductase polymorphism in various ethnic groups from western Venezuela]. 53 62
16353542 2005
9
Homocysteinemia as well as methylenetetrahydrofolate reductase polymorphism are associated with affective psychoses. 53 62
16055253 2005
10
Hyperhomocysteinemia and the MTHFR C677T polymorphism promote steatosis and fibrosis in chronic hepatitis C patients. 53 62
15834927 2005
11
Methionine synthase (MTR) 2756 (A --> G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevated homocysteinemia are three risk factors for having a child with Down syndrome. 53 62
12923861 2003
12
Air travel-associated venous thromboembolism. 53 62
12634460 2003
13
Fibrillin-2 defects impair elastic fiber assembly in a homocysteinemic chick model. 53 62
12163653 2002
14
[Can blood homocysteine explain the family history of vascular diseases?]. 53 62
11433886 2001
15
Targeted disruption of the methionine synthase gene in mice. 53 62
11158293 2001
16
[Splenic thrombosis and celiac disease: a fortuitous association?]. 53 62
11244621 2000
17
A fluorescein angiographic study of branch retinal artery occlusion (BRAO) - the retrograde filling of occluded vessels. 53 62
10611053 1999
18
Opposite effects of plasma homocysteine and the methylenetetrahydrofolate reductase C677T mutation on carotid artery geometry in asymptomatic adults. 53 62
9848874 1998
19
Thrombophilia: disorders predisposing to venous thromboembolism. 53 62
10331092 1998
20
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency. 53 62
9587026 1998
21
Myocardial infarction in a 35-year-old man with homocysteinemia, high plasminogen activator inhibitor activity, and resistance to activated protein C. 53 62
9439545 1997
22
A mutation in the methylenetetrahydrofolate reductase gene is not associated with increased risk for coronary artery disease or myocardial infarction. 53 62
9350916 1997
23
Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. 53 62
7920641 1994
24
[Inherited thrombophilia]. 53 62
7998473 1994
25
Disordered methionine/homocysteine metabolism in premature vascular disease. Its occurrence, cofactor therapy, and enzymology. 53 62
8364009 1993
26
Homocysteine catabolism: levels of 3 enzymes in cultured human vascular endothelium and their relevance to vascular disease. 53 62
1445498 1992
27
Impaired homocysteine metabolism in early-onset cerebral and peripheral occlusive arterial disease. Effects of pyridoxine and folic acid treatment. 53 62
2407253 1990
28
Homocysteinemia and vascular disease: Where we stand in 2022. 62
36210588 2022
29
Association between homocysteinemia and mortality in CKD: A propensity-score matched analysis using NHANES-National Death Index. 62
36086712 2022
30
Nonalcoholic Fatty Liver Disease and Altered Neuropsychological Functions in Patients with Subcortical Vascular Dementia. 62
35887603 2022
31
Comparison of the Levels of Blood Homocysteine between Women with Unexplained Infertility and Normal Fertility. 62
35780351 2022
32
EVALUATION OF PLASMA HOMOCYSTEINE LEVELS AND ERYTHROCYTE ANTIOXIDANT ENZYMATIC ACTIVITIES IN TYPE 2 DIABETICS WITH ARTERIAL HYPERTENSION. 62
36026747 2022
33
[Factors affecting phenotypes in the patients with MMACHC gene c.609G>A homozygous variant cblC type methylmalonic acidemia combined with homocysteinuria]. 62
35773756 2022
34
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. 62
34854955 2022
35
Hyperhomocysteinemia presenting as exclusive small vessel coronary artery disease (CAD) in a young. 62
36119322 2022
36
Nitrous oxide-induced predominantly motor neuropathies: a follow-up study. 62
34741241 2022
37
Homozygous whole body Cbs knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia. 62
35315960 2022
38
Significance of hyperhomocysteinaemia as an effective marker for vasculogenic erectile dysfunction: a cross-sectional study. 62
35402190 2022
39
Folic Acid Homeostasis and Its Pathways Related to Hepatic Oxidation in Adolescent Rats Exposed to Binge Drinking. 62
35204242 2022
40
A rise in cases of nitrous oxide abuse: neurological complications and biological findings. 62
34245346 2022
41
Influence of anti-TNF therapy and homocysteine level on carotid intima-media thickness in rheumatoid arthritis patients. 62
34917185 2022
42
Paracentral acute middle maculopathy (PAMM) associated with ulcerative colitis and coexisting hyperhomocysteinemia: A case report. 62
32993378 2022
43
Case Report: A Case of Late-Onset Combined Methylmalonic Acidemia and Hyperhomocysteinemia Induced by a Vegetarian Diet. 62
35903162 2022
44
Acute Lymphoblastic Leukemia in Combined Methylmalonic Acidemia and Homocysteinemia (cblC Type): A Case Report and Literature Review. 62
35495149 2022
45
A Case-Control Study of the MTHFR C665T Gene Polymorphism on Macrocytic Anemia Among HIV-Infected Patients Receiving Zidovudine. 62
35937309 2022
46
Comparing amniotic fluid mass spectrometry assays and amniocyte gene analyses for the prenatal diagnosis of methylmalonic aciduria. 62
35358224 2022
47
A Case of Portal Vein Thrombosis in a Patient With Methylenetetrahydrofolate Reductase A1298C Polymorphism. 62
35251815 2022
48
Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth. 62
34076870 2021
49
A case of methylmalonic acidemia and homocysteinemia cblX type with negative tandem mass spectrometry testing. 62
35347920 2021
50
[Clinical analysis of two brothers with Imerslund-Gräsbeck syndrome]. 62
34758537 2021

Variations for Homocysteinemia

ClinVar genetic disease variations for Homocysteinemia:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBS NM_000071.3(CBS):c.770C>T (p.Thr257Met) SNV Uncertain Significance
188927 rs758236584 GRCh37: 21:44484068-44484068
GRCh38: 21:43063958-43063958

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.33 MTRR MTR MTHFR
3
Show member pathways
11.38 MTR CBS
4
Show member pathways
11.3 MTRR MTR CBS
5 10.95 MTR MTHFR
6
Show member pathways
10.76 MTR CBS
7
Show member pathways
10.7 MTRR MTR MTHFR CBS
8 10.58 MTR CBS
9 10.32 MTR MTHFR
10 10.09 MTR MTHFR CBS
11
Show member pathways
9.76 MTRR MTR

GO Terms for Homocysteinemia

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

# Name GO ID Score Top Affiliating Genes
1 blood circulation GO:0008015 9.73 F5 ELN
2 response to folic acid GO:0051593 9.67 MTHFR CBS
3 homocysteine catabolic process GO:0043418 9.56 MTRR CBS
4 methionine biosynthetic process GO:0009086 9.43 MTRR MTR MTHFR
5 hemostasis GO:0007599 9.4 F5 F2
6 amino acid biosynthetic process GO:0008652 9.33 MTRR MTR CBS
7 regulation of body fluid levels GO:0050878 9.32 F5 F2
8 homocysteine metabolic process GO:0050667 9.1 MTRR MTHFR CBS

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

# Name GO ID Score Top Affiliating Genes
1 FAD binding GO:0071949 9.26 MTRR MTHFR
2 modified amino acid binding GO:0072341 8.92 MTHFR CBS

Sources for Homocysteinemia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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