GOUT
MCID: GT001
MIFTS: 65

Gout (GOUT) malady

Genetic diseases (common), Bone diseases categories

Summaries for Gout

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9Disease Ontology, 35MedlinePlus, 4CDC, 66Wikipedia, 34MalaCards
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MedlinePlus:35 Gout is a common, painful form of arthritis. it causes swollen, red, hot and stiff joints. gout happens when uric acid builds up in your body. uric acid comes from the breakdown of substances called purines. purines are in your body's tissues and in foods, such as liver, dried beans and peas, and anchovies. normally, uric acid dissolves in the blood. it passes through the kidneys and out of the body in urine. but sometimes uric acid can build up and form needle-like crystals. when they form in your joints, it is very painful. the crystals can also cause kidney stones. often, gout first attacks your big toe. it can also attack ankles, heels, knees, wrists, fingers, and elbows. at first, gout attacks usually get better in days. eventually, attacks last longer and happen more often. you are more likely to get gout if you are a man have family member with gout are overweight drink alcohol eat too many foods rich in purines gout can be hard to diagnose. your doctor may take a sample of fluid from an inflamed joint to look for crystals. you can treat gout with medicines. pseudogout has similar symptoms and is sometimes confused with gout. however, it is caused by calcium phosphate, not uric acid. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards: Gout, also known as gouty arthropathy, is related to hyperuricemia and hprt-related gout. An important gene associated with Gout is HPRT1 (hypoxanthine phosphoribosyltransferase 1), and among its related pathways are One carbon pool by folate and purine nucleotide salvage. The drugs indomethacin and sulindac and the compounds ethyl methanesulfonate and 2-amino-3-methylimidazo(4,5-f)quinoline have been mentioned in the context of this disorder. Affiliated tissues include joint, kidney and liver, and related mouse phenotypes are hematopoietic system and renal/urinary system.

Disease Ontology:9 An arthritis that has material basis in uric acid crystal deposits located in joint.

CDC:4 Gout is a rheumatic disease resulting from deposition of uric acid crystals (monosodium urate) in tissues and fluids within the body. This process is caused by an overproduction or under excretion of uric acid. Certain common medications, alcohol, and dietary foods are known to be contributory factors. Acute gout will typically manifest itself as an acutely red, hot, and swollen joint with excruciating pain. These acute gouty flare-ups respond well to treatment with oral anti-inflammatory medicines and may be prevented with medication and diet changes. Recurrent bouts of acute gout can lead to a degenerative form of chronic arthritis called gouty arthritis.

Wikipedia:66 Gout (also known as podagra when it involves the big toe) is a medical condition usually characterized... more...

Aliases & Classifications for Gout

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9Disease Ontology, 11DISEASES, 46Novoseek, 35MedlinePlus, 63UMLS, 59SNOMED-CT, 28ICD9CM, 36MeSH, 26ICD10
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Related Diseases for Gout

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18GeneCards, 19GeneDecks
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Diseases in the Gout family:

Gout, Hprt1-Related

Diseases related to Gout via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 126)
idRelated DiseaseScoreTop Affiliating Genes
1hyperuricemia31.1HPRT1, SLC17A3, XDH, APRT, PRPS1, UMOD
2hprt-related gout30.4APRT, HPRT1
3phosphoribosylpyrophosphate synthetase superactivity30.3PRPS1
4lesch-nyhan syndrome30.2HPRT1, PRPS1, ADSL, APRT, XDH
5familial juvenile hyperuricemic nephropathy30.2HPRT1, HNF1B, UMOD
6nephrolithiasis30.1SLC22A12, UMOD, APRT, XDH, HPRT1
7cystic kidney29.8UMOD, HNF1B
8diabetes mellitus29.6UMOD, HNF1B, ALDH2
9pseudogout10.7
10arthritis10.6
11kidney disease10.4
12hypertension10.4
13blindness10.3
14arthropathy10.3
15rheumatoid arthritis10.3
16familial juvenile hyperuricaemic nephropathy10.3
17insulin resistance10.3
18osteoarthritis10.2
19atherosclerosis10.2
20synovitis10.2
21septic arthritis10.2
22bursitis10.2
23myocardial infarction10.2
24reflex sympathetic dystrophy10.1
25gastric ulcer10.1
26mixed connective tissue disease10.1
27cerebrovascular disease10.1
28connective tissue disease10.1
29xanthomatosis10.1
30ivemark syndrome10.1
31epidural abscess10.1
32nephronophthisis10.1
33parkinson's disease10.1
34glycogen storage disease10.1
35obesity10.1
36adenine phosphoribosyltransferase deficiency10.1
37umod-associated kidney disease10.1
38cardiovascular disease risk factor10.1
39gout susceptibility 410.1
40renal hypouricemia10.1HPRT1, SLC22A12
41acute urate nephropathy10.1XDH, HPRT1
42purine nucleoside phosphorylase deficiency10.1HPRT1, APRT
43interstitial nephritis10.0UMOD, APRT
44coronary artery disease10.0
45factor xii deficiency10.0
46hypercalcemia10.0
47systemic lupus erythematosus10.0
48artery disease10.0
49cervicitis10.0
50lupus erythematosus10.0

Graphical network of the top 20 diseases related to Gout:



Diseases related to gout

Symptoms for Gout

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Drugs & Therapeutics for Gout

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Genetic Tests for Gout

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Anatomical Context for Gout

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34MalaCards, 15FMA
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MalaCards organs/tissues related to Gout:

34
Kidney, Liver, Skin, Bone, Heart, Monocytes, Testes, Prostate, Lung, Thyroid, Colon

FMA organs/tissues related to Gout:

15
Joint

Animal Models for Gout or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Gout:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053978.1SLC22A12, ALDH2, UMOD, HPRT1, APRT
2MP:00053678.1SLC22A12, HNF1B, UMOD, HPRT1, APRT, XDH
3MP:00107687.3XDH, APRT, HPRT1, HNF1B, ALDH2, SLC22A12
4MP:00053877.3XDH, APRT, HPRT1, UMOD, HNF1B, ALDH2
5MP:00053787.2XDH, APRT, HPRT1, UMOD, HNF1B, ALDH2
6MP:00053767.1XDH, APRT, HPRT1, UMOD, HNF1B, ALDH2

Publications for Gout

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Sources:
53PubMed
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Articles related to Gout:

(show top 50)    (show all 777)
idTitleAuthorsYear
1
Frequency of CYP2C9 polymorphisms in polynesian people and potential relevance to management of gout with benzbromarone. (23932726)
2013
2
A qualitative and quantitative analysis of the characteristics of gout patient education resources. (23322247)
2013
3
Obstructive sleep apnoea, gout and cardiovascular risk: a worth studying association. (23937998)
2013
4
Rilonacept for gout flare prevention during initiation of uric acid-lowering therapy: results from the PRESURGE-2 international, phase 3, randomized, placebo-controlled trial. (23485476)
2013
5
The distribution of urate deposition within the extremities in gout: a review of 148 dual-energy CT cases. (24337414)
2013
6
Polyarticular sonographic assessment of gout: a hospital-based cross-sectional study. (23142256)
2013
7
Common variants of a urate-associated gene LRP2 are not associated with gout susceptibility. (24366390)
2013
8
Uric acid as a danger signal in gout and its comorbidities. (22945591)
2013
9
Increased prevalence of simple renal cysts in patients with gout. (22453524)
2013
10
Intra-articular glucocorticoids for acute gout. (23633379)
2013
11
Sugar-sweetened beverage consumption: a risk factor for prevalent gout with SLC2A9 genotype-specific effects on serum urate and risk of gout. (24026676)
2013
12
Tophus burden reduction with pegloticase: results from phase 3 randomized trials and open-label extension in patients with chronic gout refractory to conventional therapy. (24286509)
2013
13
Monosodium urate (gout) crystals, an uncommon finding in ThinPrep synovial fluid cytology. (21964923)
2013
14
Metabolic Interactions of Purine Derivatives with Human ABC Transporter ABCG2: Genetic Testing to Assess Gout Risk. (24287461)
2013
15
A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes gout. (23509005)
2013
16
Benefit restrictions and gout treatment. (24156646)
2013
17
OMERACT Endorsement of Measures of Outcome for Studies of Acute Gout. (24334651)
2013
18
Women with gout: efficacy and safety of urate-lowering with febuxostat and allopurinol. (22052584)
2012
19
Spinal gout: a great mimicker. A case report and literature review. (24029100)
2012
20
Silent gout: an unusual presentation in diabetic neuropathy. (22854386)
2012
21
Gout and osteoarthritis: a pathogenetic link? (22867976)
2012
22
Tophaceous pustule-like rash in a patient with gout. (22210683)
2012
23
Prescription and dosing of urate-lowering therapy, rather than patient behaviours, are the key modifiable factors associated with targeting serum urate in gout. (22978848)
2012
24
Improved health-related quality of life and physical function in patients with refractory chronic gout following treatment with pegloticase: evidence from phase III randomized controlled trials. (22660805)
2012
25
Crystal arthritis: Canakinumab relieves gout flares when treatment options are limited. (22641137)
2012
26
Juvenile gout: rare and aggressive. (22602839)
2012
27
Cytokine levels in human synovial fluid during the different stages of acute gout: role of transforming growth factor I^1 in the resolution phase. (22294622)
2012
28
Febuxostat: a novel agent for management of hyperuricemia in gout. (23112391)
2011
29
Gout measures: Gout Assessment Questionnaire (GAQ, GAQ2.0), and physical measurement of tophi. (22588771)
2011
30
How clinical and research failures lead to suboptimal prescribing: the example of chronic gout. (22134968)
2011
31
The mechanisms of inflammation in gout and pseudogout (CPP-induced arthritis). (22303529)
2011
32
Magnetic resonance imaging bone edema is not a major feature of gout unless there is concomitant osteomyelitis: 10-year findings from a high-prevalence population. (21965640)
2011
33
Genetic analysis of ABCG2 gene C421A polymorphism with gout disease in Chinese Han male population. (19921266)
2010
34
The cyclic GMP-dependent protein kinase II gene associates with gout disease: identified by genome-wide analysis and case-control study. (18678579)
2009
35
Identification of a urate transporter, ABCG2, with a common functional polymorphism causing gout. (19506252)
2009
36
A critical reappraisal of allopurinol dosing, safety, and efficacy for hyperuricemia in gout. (19296886)
2009
37
Benjamin Franklin's risk factors for gout and stones: from genes and diet to possible lead poisoning. (19244863)
2008
38
A case of verrucous carcinoma (epithelioma cuniculatum) of the heel mimicking infected epidermal cyst and gout. (19825731)
2008
39
SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout. (18327257)
2008
40
Tophaceous gout of the lumbar spine mimicking pyogenic discitis. (17197341)
2007
41
Markers of vascular endothelium activation in gout]. (15989007)
2005
42
Purine metabolites in gout and asymptomatic hyperuricemia: analysis by HPLC-electrospray tandem mass spectrometry. (16120958)
2005
43
Interleukin-1 receptor antagonist gene polymorphism in Taiwanese patients with gout. (15789892)
2005
44
Reduced incidence of hyperuricemia, gout, and renal failure following liver transplantation in comparison to heart transplantation: a long-term follow-up study. (15239625)
2004
45
Evaluation of crystals in formalin-fixed, paraffin-embedded tissue sections for the differential diagnosis of pseudogout, gout, and tumoral calcinosis. (11504841)
2001
46
Gout, uric acid and purine metabolism in paediatric nephrology. (8439471)
1993
47
Gout and pseudogout in hospitalized patients. (8257255)
1993
48
Recurrent hemarthrosis associated with gout. (1555350)
1992
49
Coexistence of rheumatoid nodulosis and gout. (3772930)
1986
50
Gout and pseudogout precipitated by parathyroidectomy. (7112087)
1982

Variations for Gout

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Expression for genes affiliated with Gout

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gout

Search GEO for disease gene expression data for Gout.

Pathways for genes affiliated with Gout

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Sources:
51PathCards, 31KEGG, 39NCBI BioSystems Database, 52PharmGKB, 61Thomson Reuters, 13EMD Millipore, 56Reactome
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Pathways related to Gout according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
One Carbon Metabolism39
dTMP de novo biosynthesis (mitochondrial)39
tetrahydrofolate salvage from 5,10-methenyltetrahydrofolate39
Trans-sulfuration and one carbon metabolism39
methionine salvage39
Methionine metabolism61
9.8PRPS1, HPRT1
2
Show member pathways
guanosine nucleotides de novo biosynthesis39
guanosine ribonucleotides de novo biosynthesis39
adenosine ribonucleotides de novo biosynthesis39
purine nucleotides de novo biosynthesis39
9.8APRT, HPRT1
39.7XDH, SLC22A12
49.4UMOD, HNF1B
59.2HPRT1, ADSL, PRPS1
6
Show member pathways
Retinol metabolism61
9.2XDH, ALDH2
7
Show member pathways
8.9XDH, HPRT1, ALDH2
8
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
8.7HPRT1, ADSL, APRT, XDH
9
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
8.3ADSL, PRPS1, APRT, XDH, HPRT1
10
Show member pathways
7.5HPRT1, ALDH2, ADSL, APRT, PRPS1, XDH

Compounds for genes affiliated with Gout

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46Novoseek, 52PharmGKB, 12DrugBank, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Gout according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1ethyl methanesulfonate4610.1HPRT1, APRT
22-amino-3-methylimidazo(4,5-f)quinoline4610.1HPRT1, APRT
36-thiouric acid4610.1XDH, HPRT1
4tiazofurin4610.1XDH, HPRT1
5bpde4610.1HPRT1, APRT
6benzbromarone4610.1XDH, SLC22A12
7mercaptopurine52 1211.1HPRT1, XDH
8pyrazinamide46 52 1212.1XDH, SLC22A12
9didanosine46 52 1212.0HPRT1, XDH
10phip4610.0APRT, HPRT1
11thiopurine4610.0XDH, HPRT1
126 mercaptopurine4610.0HPRT1, XDH
13calcium oxalate469.9UMOD, APRT
14probenecid30 46 62 52 1213.8SLC22A12, XDH
155-Aminoimidazole-4-carboxamide259.8APRT, ADSL
16Phosphoribosyl pyrophosphate259.8HPRT1, PRPS1, APRT
17benzo(a)pyrene469.8HPRT1, APRT
18adenylosuccinate469.8APRT, ADSL
19nicotinamide46 1210.8HNF1B, HPRT1
202,8-dihydroxyadenine469.7HPRT1, APRT, XDH
21molybdenum46 2510.7ADSL, XDH
22inosine46 2510.7XDH, APRT, HPRT1
235-methylthioadenosine469.7APRT, ADSL
24losartan46 52 30 1212.7SLC22A12, XDH
25phosphoric acid46 2510.7APRT, PRPS1, HPRT1
26aicar46 25 1211.6ADSL, APRT
27pyrophosphate46 2510.6HPRT1, PRPS1, APRT
28guanine46 25 1211.6HPRT1, APRT, XDH
29inosine monophosphate469.6HPRT1, ADSL, APRT
30nucleoside469.5HPRT1, ADSL, APRT
31peroxynitrite469.4UMOD, XDH
32betacarotene469.4HPRT1, ALDH2
33acetaldehyde30 46 2511.3ALDH2, HPRT1, XDH
34prpp469.2APRT, ADSL, PRPS1, HPRT1
35allopurinol46 52 1211.2UMOD, HPRT1, APRT, XDH
36Adenosine monophosphate25 1210.2APRT, ADSL, PRPS1, HPRT1
37purine nucleoside469.1XDH, APRT, ADSL, HPRT1
38hypoxanthine46 25 1211.1HPRT1, ADSL, APRT, XDH
39xanthine46 2510.1XDH, APRT, ADSL, HPRT1
40adenine46 25 1211.1XDH, APRT, ADSL, HPRT1
41thymidine46 259.8HPRT1, ADSL, APRT
42purine46 259.8XDH, APRT, ADSL, PRPS1, HPRT1
43arginine468.6ALDH2, HNF1B, HPRT1, XDH
44cysteine468.6XDH, HPRT1, UMOD, ALDH2
45creatinine467.9APRT, ADSL, HPRT1, UMOD, ALDH2, SLC22A12
46uric acid46 258.4SLC22A12, XDH, APRT, ADSL, PRPS1, HPRT1

GO Terms for genes affiliated with Gout

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17Gene Ontology
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Cellular components related to Gout according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.5SLC22A12, SLC17A3
2apical plasma membraneGO:0163249.2UMOD, SLC17A3, SLC22A12
3cytosolGO:0058298.3XDH, APRT, ADSL, PRPS1, HPRT1
4extracellular vesicular exosomeGO:0700628.1APRT, HPRT1, UMOD, ALDH2, SLC22A12

Biological processes related to Gout according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1organic acid transportGO:01584910.0SLC17A3, SLC22A12
2adenine salvageGO:0061689.9HPRT1, APRT
3urate transportGO:0157479.9SLC17A3, SLC22A12
4purine ribonucleoside salvageGO:0061669.8HPRT1, APRT
5urate metabolic processGO:0464159.8SLC17A3, SLC22A12
6purine-containing compound salvageGO:0431019.7HPRT1, APRT
7AMP biosynthetic processGO:0061679.6ADSL, PRPS1
8lactationGO:0075959.6XDH, APRT
9grooming behaviorGO:0076259.5HPRT1, APRT
10purine nucleotide biosynthetic processGO:0061649.5ADSL, PRPS1, HPRT1
11nucleobase-containing small molecule metabolic processGO:0550868.9APRT, ADSL, HPRT1, XDH
12purine nucleobase metabolic processGO:0061448.6HPRT1, PRPS1, ADSL, APRT, XDH
13small molecule metabolic processGO:0442817.7ALDH2, XDH, APRT, ADSL, PRPS1, HPRT1

Molecular functions related to Gout according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1urate transmembrane transporter activityGO:0151439.8SLC22A12, SLC17A3
2AMP bindingGO:0162089.6APRT, PRPS1
3electron carrier activityGO:0090559.2XDH, ALDH2
4protein homodimerization activityGO:0428038.6PRPS1, HPRT1, HNF1B, XDH

Products for genes affiliated with Gout

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gout

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet