Homocysteinemia malady

Summaries for Homocysteinemia

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63Wikipedia, 32MalaCards
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Wikipedia:63 Homocysteine [IPA: ˌhəʊməʊˈsɪstiːn] is a non-protein α-amino acid. It is a homologue of the... more...

MalaCards: Homocysteinemia, also known as hyperhomocysteinemia, is related to retinal vein occlusion and central retinal vein occlusion. An important gene associated with Homocysteinemia is MTHFR (methylenetetrahydrofolate reductase (NAD(P)H)), and among its related pathways are glycine biosynthesis I and Trans-sulfuration pathway. The compounds estrogen and glutamate have been mentioned in the context of this disorder. Related mouse phenotypes are integument and cardiovascular system.

Aliases & Classifications for Homocysteinemia

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60UMLS, 42NIH Rare Diseases, 22GTR, 44Novoseek
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Aliases & Descriptions:

homocysteinemia 42 22 44
hyperhomocysteinemia 60

Related Diseases for Homocysteinemia

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17GeneCards, 18GeneDecks
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Diseases related to Homocysteinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 225)
idRelated DiseaseScoreTop Affiliating Genes
1retinal vein occlusion30.5F5, MTHFR
2central retinal vein occlusion30.5MTHFR, F5
3vascular disease30.4ELN, MTRR, F5, CBS, CRP, SLC19A1
4stroke, ischemic30.4F5, F2
5acute myocardial infarction30.3CRP, CBS
6arteriosclerosis30.3MTHFR, ELN
7portal vein thrombosis30.3F5, MTHFR, F2
9crohn's disease30.2CRP
10antiphospholipid syndrome30.2F2, MTHFR, F5
11pulmonary embolism30.2MTHFR, F5, CBS, F2
12hypertension30.1F2, MTHFR, F5, CRP
13homocystinuria30.1CBS, FBN1, F5, MTRR, MTHFR, MTR
14thrombophilia30.1MTHFR, F2, F5, CBS
15ulcerative colitis30.0CRP
16aortic aneurysm30.0CRP, FBN1
17cerebrovascular disease30.0CBS, MTHFR, MTR
19diabetes mellitus30.0CRP, MTHFR
20protein s deficiency30.0MTHFR, F5, F2
21peritonitis30.0F2, CRP
22vasculitis30.0CRP, F2
23myocardial infarction30.0MTR, CBS, MTHFR, CRP, F5
24coronary artery disease30.0CRP, MTRR, MTHFR, MTR, FBN1, CBS
25acute leukemia29.9MTHFR
26branch retinal artery occlusion29.9F5
27primary pulmonary hypertension29.9FBN1
29carotid stenosis29.9CRP
30abdominal aortic aneurysm29.9FBN1, ELN
31arthritis29.9FBN1, CRP
32factor v deficiency29.9F2, F5
33protein c deficiency29.9F5, MTHFR, F2
34leukemia29.9MTHFR, MTR, SLC19A1, CBS
35chronic kidney failure29.9MTHFR, MTR, CRP
36breast cancer29.9CBS, MTR, MTRR, SLC19A1, MTHFR
37dementia29.8CBS, MTR
38systemic lupus erythematosus29.8CRP
39polycystic ovary syndrome29.8CRP
40vitamin b12 deficiency29.8MTHFR, MTR
41methylmalonic acidemia29.8MTR, MMACHC
42obesity29.8CRP, CBS
43alzheimer's disease29.8CBS, MTR
44lupus erythematosus29.8F2, F5
45down syndrome29.8CBS, MTRR, MTHFR, MTR, SLC19A1
46atherosclerosis29.8CRP, FBN1, MTHFR, MTR, CBS, ELN
47hyperhomocysteinemia29.7CBS, MTHFR, MTR, SLC19A1, F2, CRP
49patent foramen ovale29.7F5
50retinal vascular occlusion29.7F5

Graphical network of the top 20 diseases related to Homocysteinemia:

Diseases related to homocysteinemia

Clinical Features for Homocysteinemia

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Drugs & Therapeutics for Homocysteinemia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Homocysteinemia

Drug clinical trials:

Search ClinicalTrials for Homocysteinemia

Search NIH Clinical Center for Homocysteinemia

Search CenterWatch for Homocysteinemia

Genetic Tests for Homocysteinemia

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Genetic tests related to Homocysteinemia:

id Genetic test Affiliating Genes
1 Homocysteinemia22

Anatomical Context for Homocysteinemia

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Animal Models for Homocysteinemia or affiliated genes

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MGI Mouse Phenotypes related to Homocysteinemia:

idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.3FBN1, CBS, F2, SLC19A1
2MP:00053858.2F2, CBS, FBN1, CRP
3MP:00107686.9FBN1, F5, MTHFR, MTR, CBS, F2
4MP:00053786.9FBN1, F5, MTRR, MTHFR, CBS, F2
5MP:00053766.0ELN, CRP, FBN1, F5, MTRR, MTHFR

Publications for Homocysteinemia

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Genetic Variations for Homocysteinemia

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Expression for genes affiliated with Homocysteinemia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Homocysteinemia

Search GEO for disease gene expression data for Homocysteinemia.

Pathways for genes affiliated with Homocysteinemia

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37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore, 51QIAGEN, 49PharmGKB
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Compounds for genes affiliated with Homocysteinemia

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB
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Compounds related to Homocysteinemia according to GeneCards/GeneDecks:

(show top 50)    (show all 108)
idCompoundScoreTop Affiliating Genes
3methyl-group4410.2MTR, MTHFR
5cob(ii)alamin44 2411.0MTR, MTRR
65,10-methenyltetrahydrofolate4410.0CBS, MTHFR, MTR
7pyridoxal 5-phosphate449.8CBS, MTR, MTHFR
810-formyltetrahydrofolate449.7MTR, MTHFR, SLC19A1
9serine449.7ELN, CBS, FBN1
10heparin44 28 11 2412.6ELN, MTHFR, FBN1
11cacl2449.6FBN1, ELN, F5
12b vitamins449.5CBS, MTR, MTHFR, MTRR
13dihydrofolate449.5MTR, MTHFR, SLC19A1
14methylcobalamin44 2410.5MTRR, MTHFR, MTR, CBS
15betaine44 2410.5MTR, MTRR, MTHFR, CBS
16methylmalonic acid44 2410.5MTRR, MTHFR, MTR, CBS
17s-adenosylhomocysteine44 2410.5MTHFR, CBS, MTRR, MTR
18cyanocobalamin49 11 2411.5MTHFR, MTRR, MMACHC, MTR
19hydroxocobalamin44 1110.4MTRR, MTR, MMACHC, MTHFR
20copper44 2410.4MTR, F5, CBS, ELN
21inogatran449.4F2, F5
22purine44 2410.4SLC19A1, MTHFR, MTR, CBS
23p00001449.4CRP, FBN1, MTHFR
24hirugen449.3F5, F2
25tetrahydrofolate449.3MTRR, MTHFR, MTR, SLC19A1
26sulfasalazine44 28 49 1112.3CRP, SLC19A1, MTHFR
27ecarin449.3F5, F2
28betacarotene449.2CRP, MTHFR, ELN
29p002449.2F5, CRP, MTHFR, CBS
30dermatan sulfate449.0F5, F2, ELN
31vitamin b6449.0MTR, MTHFR, F5, CBS, CRP
32thymidylate449.0MTRR, CBS, MTR, MTHFR, SLC19A1
33s-adenosylmethionine44 11 2411.0MTRR, MTHFR, MTR, CBS, SLC19A1
34methionine448.9MTRR, SLC19A1, CBS, MTHFR, MTR
35metformin44 49 1110.9CRP, F5, MTHFR
36ascorbic acid44 249.7MTHFR, ELN, F5, CRP, FBN1
37cystathionine448.7MTHFR, CBS, MTR, MTRR, F5, FBN1
385-methyltetrahydrofolate44 119.7MTR, SLC19A1, CBS, F5, MTHFR, MTRR
39polyethylene glycol448.7CRP, F5, F2, ELN
40aspirin44 49 28 2411.6CRP, F5, F2, MTHFR
41cobalamin44 249.5CRP, MTRR, MTHFR, MTR, CBS, MMACHC
42cysteine448.2MTR, MTHFR, ELN, FBN1, SLC19A1, F5
43vitamin b12448.2MTRR, CBS, MTHFR, MMACHC, MTR, CRP
44creatinine448.1MTR, F5, ELN, MTHFR, CRP, F2
45fibrinogen448.1CBS, F5, MTHFR, CRP, F2, ELN
46folate448.0CBS, MTR, MTHFR, MTRR, CRP, SLC19A1
47aspartate447.7F2, CRP, F5, MTRR, ELN, MTHFR
48methotrexate44 49 119.6CRP, MTRR, MTHFR, MTR, CBS, F2
49alanine446.9FBN1, CRP, F5, MTHFR, MTRR, ELN
50homocysteine44 247.7F2, CBS, MTR, MTHFR, MTRR, F5

GO Terms for genes affiliated with Homocysteinemia

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16Gene Ontology
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Biological processes related to Homocysteinemia according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1homocysteine metabolic processGO:0506679.9CBS, MTHFR
2methionine biosynthetic processGO:0090869.9MTHFR, MTRR
3blood circulationGO:0080159.6F5, MTHFR, ELN
4sulfur amino acid metabolic processGO:0000969.6CBS, MTR, MTRR
5folic acid metabolic processGO:0466559.6SLC19A1, MTHFR
6cobalamin metabolic processGO:0092359.5MMACHC, MTR, MTRR
7methylationGO:0322599.4MTRR, MTR
8cellular nitrogen compound metabolic processGO:0346419.4CBS, MTR, MTRR
9water-soluble vitamin metabolic processGO:0067678.7SLC19A1, MMACHC, MTR, MTHFR, MTRR
10vitamin metabolic processGO:0067668.7MTRR, MTHFR, MTR, MMACHC, SLC19A1
11small molecule metabolic processGO:0442818.2MTRR, MTHFR, MTR, CBS, MMACHC, SLC19A1

Molecular functions related to Homocysteinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314199.8MMACHC, MTR
2modified amino acid bindingGO:0723419.6CBS, MTHFR

Products for genes affiliated with Homocysteinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Homocysteinemia

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26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
61UMLS via Orphanet