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MCID: HMC014
MIFTS: 54

Homocysteinemia

Categories: Blood diseases, Metabolic diseases, Rare diseases
Genes 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 73
Hyperhomocysteinemia 57 12 76 29 55 44 15 73

Classifications:

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


External Ids:

OMIM 57 603174
Disease Ontology 12 DOID:9279
MeSH 44 D020138
NCIt 50 C84770
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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 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 leucovorin and Hydroxocobalamin have been mentioned in the context of this disorder. Affiliated tissues include endothelial, testes 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 : 76 Hyperhomocysteinemia or hyperhomocysteinaemia is a medical condition characterized by an abnormally high... 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 327)
# Related Disease Score Top Affiliating Genes
1 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 33.0 MTHFR MTR
2 homocystinuria 32.0 CBS F5 MMACHC MTHFR MTR MTRR
3 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 30.4 MMACHC MTHFR MTR
4 retinal vein occlusion 30.4 F2 F5 MTHFR SERPINC1
5 thrombosis 30.4 F2 F5 MTHFR SERPINC1
6 central retinal vein occlusion 30.3 F2 F5 MTHFR SERPINC1
7 portal vein thrombosis 30.2 F2 F5 MTHFR SERPINC1
8 thrombophilia 30.0 F2 F5 MTHFR SERPINC1
9 retinal artery occlusion 30.0 F2 F5 MTHFR SERPINC1
10 branch retinal artery occlusion 30.0 F2 MTHFR SERPINC1
11 livedoid vasculitis 30.0 F2 MTHFR SERPINC1
12 antiphospholipid syndrome 30.0 F2 F5 MTHFR SERPINC1
13 placenta disease 29.9 F5 MTHFR SERPINC1
14 atherosclerosis susceptibility 29.9 CRP H19 NOS3
15 protein s deficiency 29.9 F2 F5 MTHFR SERPINC1
16 osteonecrosis 29.8 F2 MTHFR SERPINC1
17 cerebrovascular disease 29.8 CBS CRP F2 F5 MTHFR MTR
18 coronary artery anomaly 29.8 CRP F2 F5 NOS3
19 pulmonary embolism 29.8 ALB CRP F2 F5 MTHFR SERPINC1
20 neural tube defects, folate-sensitive 29.8 MTHFR MTR MTRR
21 chronic thromboembolic pulmonary hypertension 29.7 CRP F2
22 ischemic heart disease 29.7 CRP MTHFR NOS3
23 placental abruption 29.7 F2 F5 MTHFR SERPINC1
24 protein c deficiency 29.7 F2 F5 MTHFR SERPINC1
25 budd-chiari syndrome 29.7 F2 F5 MTHFR SERPINC1
26 colorectal adenoma 29.7 CRP MTHFR MTR
27 megaloblastic anemia 29.7 MTHFR MTR MTRR
28 endocarditis 29.6 ALB CRP F2 SERPINC1
29 thrombophilia due to thrombin defect 29.6 CBS F2 F5 MTHFR SERPINC1
30 buerger disease 29.6 F2 MTHFR NOS3
31 arteries, anomalies of 29.6 ALB CRP NOS3 SERPINC1
32 purpura 29.6 CRP F2 SERPINC1
33 coronary heart disease 1 29.5 CRP H19 MTHFR NOS3
34 analbuminemia 29.5 ALB CRP F2
35 patent foramen ovale 29.5 F2 F5 MTHFR SERPINC1
36 chronic kidney failure 29.4 ALB CRP MTHFR NOS3
37 eclampsia 29.3 ALB F2 MTHFR SERPINC1
38 peripheral vascular disease 29.3 ALB CRP F2 SERPINC1
39 stroke, ischemic 29.2 CRP F2 F5 MTHFR NOS3 SERPINC1
40 ischemic optic neuropathy 29.1 F2 F5 MTHFR NOS3 SERPINC1
41 nonarteritic anterior ischemic optic neuropathy 29.1 F2 F5 MTHFR NOS3 SERPINC1
42 neural tube defects 29.0 BHMT CBS H19 MTHFR MTR MTRR
43 myocardial infarction 28.9 ALB CBS CRP F2 F5 MTHFR
44 pre-eclampsia 28.9 F2 F5 H19 MTHFR NOS3 SERPINC1
45 vascular disease 28.8 ALB BHMT CBS CRP F2 F5
46 heart disease 28.8 ALB CBS CRP F2 H19 MTHFR
47 methylmalonic acidemia and homocysteinemia, cblx type 12.5
48 combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia 12.4
49 homocystinuria due to cystathionine beta-synthase deficiency 11.6
50 methylmalonic aciduria and homocystinuria type cble 10.3 MTR MTRR

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 ALB BHMT CRP CTH F2 F5
2 liver/biliary system MP:0005370 9.76 ALB BHMT CTH F5 MTHFR NOS3
3 mortality/aging MP:0010768 9.7 AHCY ALB CTH F2 F5 MMACHC
4 renal/urinary system MP:0005367 9.17 ALB BHMT CTH MMACHC NOS3 SERPINC1
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Drugs & Therapeutics for Homocysteinemia

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
2
Hydroxocobalamin Approved Phase 3 13422-51-0 11953898 44475014
3
Methylcobalamin Approved, Experimental, Investigational Phase 3 13422-55-4
4
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
5
Cyanocobalamin Approved, Nutraceutical Phase 3 68-19-9 44176380
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
7
Cobalamin Experimental Phase 3 13408-78-1 6438156
8 Vitamin B9 Phase 3,Not Applicable
9 Vitamin B 6 Phase 3
10 Folate Phase 3,Not Applicable
11 Vitamin B 12 Phase 3
12 Vitamins Phase 3,Not Applicable
13 Vitamin B12 Phase 3
14 Vitamin B Complex Phase 3,Not Applicable
15
Pyridoxal Experimental, Nutraceutical Phase 3 66-72-8 1050
16 Hematinics Not Applicable
17 Trace Elements Not Applicable
18 Micronutrients 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

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Genetic Tests for Homocysteinemia

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Genetic tests related to Homocysteinemia:

# Genetic test Affiliating Genes
1 Hyperhomocysteinemia 29
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Anatomical Context for Homocysteinemia

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MalaCards organs/tissues related to Homocysteinemia:

41
Endothelial, Testes, Kidney, Bone, Heart, Ovary, Brain
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Publications for Homocysteinemia

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Articles related to Homocysteinemia:

(show top 50) (show all 466)
# Title Authors Year
1
Guanidinoacetic acid with creatine compared with creatine alone for tissue creatine content, hyperhomocysteinemia, and exercise performance: A randomized, double-blind superiority trial. ( 30170305 )
2019
2
Remote ischemic conditioning as a cytoprotective strategy in vasculopathies during hyperhomocysteinemia: An emerging research perspective. ( 30272816 )
2019
3
Secondary hyperhomocysteinemia-related occlusive retinal vasculopathy: A case report. ( 30511034 )
2019
4
Significantly higher frequencies of anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in atrophic glossitis patients. ( 30087017 )
2018
5
Prevalence and clinical-demographic correlates of hyperhomocysteinemia in inpatients with bipolar disorder in a Han Chinese population. ( 29120844 )
2018
6
Histone Hyperacetylation as a Response to Global Brain Ischemia Associated with Hyperhomocysteinemia in Rats. ( 30322095 )
2018
7
Hyperhomocysteinemia as a Risk Factor for Vascular Contributions to Cognitive Impairment and Dementia. ( 30429785 )
2018
8
Emodin rescued hyperhomocysteinemia-induced dementia and Alzheimer's disease-like features in rats. ( 30407508 )
2018
9
Correlation of hyper-homocysteinemia with coronary artery disease in absence of conventional risk factors among young adults. ( 30069136 )
2018
10
Effects of dietary supplementation with creatine on homocysteinemia and systemic microvascular endothelial function in individuals adhering to vegan diets. ( 30506745 )
2018
11
Relationships of Hyperhomocysteinemia and Hyperuricemia With Metabolic Syndrome and Renal Function in Chinese Centenarians. ( 30271378 )
2018
12
Hyperhomocysteinemia in acute iatrogenic hypothyroidism: the relevance of thyroid autoimmunity. ( 29288439 )
2018
13
Hyperhomocysteinemia Accelerates Acute Kidney Injury to Chronic Kidney Disease Progression by Downregulating Heme Oxygenase-1 Expression. ( 30084650 )
2018
14
Simultaneous pulmonary thromboembolism and superior mesenteric venous thrombosis associated with hyperhomocysteinemia secondary to pernicious anemia-induced vitamin B12 deficiency. ( 30057976 )
2018
15
Hyperhomocysteinemia in polycystic ovary syndrome: decreased betaine-homocysteine methyltransferase and cystathionine β-synthase-mediated homocysteine metabolism. ( 29804940 )
2018
16
Autopsy findings in an atypical case of occult massive fatal pulmonary embolism in a backdrop of hyperhomocysteinemia. ( 29567899 )
2018
17
Severe hyperhomocysteinemia manifesting as moyamoya vasculopathy and Henoch-Schonlein purpura. ( 30021915 )
2018
18
Analytic Approaches for the Treatment of Hyperhomocysteinemia and Its Impact on Vascular Disease. ( 29679304 )
2018
19
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 )
2018
20
Knockdown of Herp alleviates hyperhomocysteinemia mediated atherosclerosis through the inhibition of vascular smooth muscle cell phenotype switching. ( 30017525 )
2018
21
Association between hyperhomocysteinemia and metabolic syndrome with early carotid artery atherosclerosis: A cross-sectional study in middle-aged Chinese population. ( 29778949 )
2018
22
GSNOR modulates hyperhomocysteinemia-induced T cell activation and atherosclerosis by switching Akt S-nitrosylation to phosphorylation. ( 29860106 )
2018
23
PKM2-dependent metabolic reprogramming in CD4+ T cells is crucial for hyperhomocysteinemia-accelerated atherosclerosis. ( 29732501 )
2018
24
Epigenetic modifications in hyperhomocysteinemia: potential role in diabetic retinopathy and age-related macular degeneration. ( 29560091 )
2018
25
Hyperhomocysteinemia and Risk of First Venous Thrombosis: The Influence of (Unmeasured) Confounding Factors. ( 29370361 )
2018
26
Different doses of folic acid and vitamin B12 to treat rabbits with deep venous thrombosis and hyperhomocysteinemia. ( 29456691 )
2018
27
Hyperhomocysteinemia in a Patient with Moyamoya Disease. ( 29854506 )
2018
28
Moderate hyperhomocysteinemia along with increased levels of B12 in a 21-y boy with the Sanfilippo syndrome in poor nutritional status. ( 29616922 )
2018
29
Role of hyperhomocysteinemia in proliferative diabetic retinopathy: A case-control study. ( 30249828 )
2018
30
Commentary: Role of hyperhomocysteinemia in proliferative diabetic retinopathy: A case-control study. ( 30249829 )
2018
31
Impact of hyperhomocysteinemia on insulin resistance in patients with H-type hypertension. ( 29172743 )
2018
32
Prevalence of hyperhomocysteinemia and its associated factors in patients with primary hypertension in Chinese urban communities: A cross-sectional study from Nanjing. ( 29172835 )
2018
33
Chronic Mild Hyperhomocysteinemia Alters Inflammatory and Oxidative/Nitrative Status and Causes Protein/DNA Damage, as well as Ultrastructural Changes in Cerebral Cortex: Is Acetylsalicylic Acid Neuroprotective? ( 29243196 )
2018
34
Genetic variants of the folate metabolic system and mild hyperhomocysteinemia may affect ADHD associated behavioral problems. ( 29407547 )
2018
35
Homocysteine causes dysfunction of chondrocytes and oxidative stress through repression of SIRT1/AMPK pathway: A possible link between hyperhomocysteinemia and osteoarthritis. ( 29413962 )
2018
36
Expression Profiles of Six Atherosclerosis-Associated microRNAs That Cluster in Patients with Hyperhomocysteinemia: A Clinical Study. ( 29461880 )
2018
37
Vitamin B complex mitigates cardiac dysfunction in high-methionine diet-induced hyperhomocysteinemia. ( 29509296 )
2018
38
Hyperhomocysteinemia potentiates diabetes-impaired EDHF-induced vascular relaxation: Role of insufficient hydrogen sulfide. ( 29524844 )
2018
39
Communication: Melatonin, Hyperhomocysteinemia, Thioretinaco Ozonide, Adenosylmethionine and Mitochondrial Dysfunction in Aging and Dementia. ( 29531009 )
2018
40
Vascular Remodeling, Oxidative Stress, and Disrupted PPARγ Expression in Rats of Long-Term Hyperhomocysteinemia with Metabolic Disturbance. ( 29552030 )
2018
41
Causes of hyperhomocysteinemia and its pathological significance. ( 29552692 )
2018
42
Association of prehypertension and hyperhomocysteinemia with subclinical atherosclerosis in asymptomatic Chinese: a cross-sectional study. ( 29555791 )
2018
43
Hyperhomocysteinemia induces injury in olfactory bulb neurons by downregulating Hes1 and Hes5 expression. ( 29557377 )
2018
44
Exercise mitigates the effects of hyperhomocysteinemia on adverse muscle remodeling. ( 29595876 )
2018
45
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children. ( 29600437 )
2018
46
Hyperhomocysteinemia and hyperandrogenemia share PCSK9-LDLR pathway to disrupt lipid homeostasis in PCOS. ( 29660344 )
2018
47
Which Ischemic Stroke Subtype Is Associated with Hyperhomocysteinemia? ( 29661647 )
2018
48
Significantly higher frequencies of hemoglobin, iron, vitamin B12, and folic acid deficiencies and of hyperhomocysteinemia in patients with Behcet's disease. ( 29716764 )
2018
49
Perioperative stroke and hyperhomocysteinemia: a possible pathogenic link. ( 29739176 )
2018
50
Two episodes of Taravana syndrome in a breath-hold diver with hyperhomocysteinemia. ( 29744064 )
2018
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Variations for Homocysteinemia

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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 15)
# Super pathways Score Top Affiliating Genes
1
Metabolism 66
Show member pathways
 13.81 AHCY ALB BHMT CBS CTH MMACHC
2
Metabolism of water-soluble vitamins and cofactors 66
Show member pathways
 12.37 MMACHC MTHFR MTR MTRR SLC19A1
3
Carbon metabolism 37
Show member pathways
 12.08 CBS CTH MTHFR MTR
4
Complement and coagulation cascades 1 37
11.86 F2 F5 SERPINC1
5
Sulfur amino acid metabolism 66
Show member pathways
 11.72 AHCY BHMT CBS CTH MTR MTRR
6
Selenium Micronutrient Network 1
Show member pathways
 11.66 AHCY ALB CBS CRP CTH F2
7
Diseases of metabolism 66
Show member pathways
 11.65 MMACHC MTR MTRR
8
One carbon pool by folate 37
Show member pathways
 11.65 AHCY BHMT CBS CTH MTHFR MTR
9
Amino Acid metabolism 1
11.63 BHMT CBS CTH
10
Glycine, serine and threonine metabolism 37
Show member pathways
 11.3 BHMT CBS CTH
11
Vitamin digestion and absorption 37
10.93 MMACHC SLC19A1
12
Cobalamin (Cbl, vitamin B12) transport and metabolism 66
10.76 MMACHC MTR MTRR
13
Selenocompound metabolism 37
10.75 CTH MTR
14
Folate-Alcohol and Cancer Pathway 1
10.38 CBS MTHFR
15
Defective MTR causes methylmalonic aciduria and homocystinuria type cblG 66
Show member pathways
 9.92 MTR MTRR
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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 blood microparticle GO:0072562 9.13 ALB F2 SERPINC1
2 endoplasmic reticulum lumen GO:0005788 8.92 ALB F2 F5 SERPINC1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.97 CBS MMACHC MTHFR MTRR NOS3
2 cellular protein metabolic process GO:0044267 9.81 ALB F2 F5 SERPINC1
3 hemostasis GO:0007599 9.67 F2 F5 SERPINC1
4 one-carbon metabolic process GO:0006730 9.58 AHCY MTHFR
5 regulation of blood coagulation GO:0030193 9.57 F2 SERPINC1
6 negative regulation of platelet activation GO:0010544 9.56 F2 NOS3
7 cysteine biosynthetic process GO:0019344 9.55 CBS CTH
8 methionine metabolic process GO:0006555 9.54 MTHFR MTRR
9 S-adenosylmethionine metabolic process GO:0046500 9.52 BHMT MTHFR
10 cobalamin metabolic process GO:0009235 9.5 MMACHC MTR MTRR
11 sulfur amino acid metabolic process GO:0000096 9.48 AHCY BHMT
12 transsulfuration GO:0019346 9.46 CBS CTH
13 cellular amino acid biosynthetic process GO:0008652 9.46 CBS CTH MTR MTRR
14 hydrogen sulfide biosynthetic process GO:0070814 9.43 CBS CTH
15 folic acid metabolic process GO:0046655 9.43 MTHFR MTRR SLC19A1
16 cysteine biosynthetic process via cystathionine GO:0019343 9.4 CBS CTH
17 homocysteine catabolic process GO:0043418 9.37 CBS MTRR
18 homocysteine metabolic process GO:0050667 9.13 CBS MTHFR MTRR
19 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 identical protein binding GO:0042802 9.91 AHCY ALB CBS CRP CTH SERPINC1
2 flavin adenine dinucleotide binding GO:0050660 9.54 MTHFR MTRR NOS3
3 FMN binding GO:0010181 9.46 MTRR NOS3
4 cobalamin binding GO:0031419 9.4 MMACHC MTR
5 pyridoxal phosphate binding GO:0030170 9.33 ALB CBS CTH
6 modified amino acid binding GO:0072341 9.32 CBS MTHFR
7 NADPH-hemoprotein reductase activity GO:0003958 9.26 MTRR NOS3
8 NADP binding GO:0050661 9.13 MTHFR MTRR NOS3
9 FAD binding GO:0071949 8.8 MMACHC MTHFR MTRR
Sources

Sources for Homocysteinemia

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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