Summaries for Urolithiasis

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44Wikipedia, 22MalaCards
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Wikipedia: Urolithiasis (from Greek oûron, \"urine\" and lithos, \"stone\") is the condition where urinary calculi...44 more...

MalaCards: Urolithiasis is related to adenine phosphoribosyltransferase deficiency and acute urate nephropathy. An important gene associated with Urolithiasis is APRT (adenine phosphoribosyltransferase), and among its related pathways are Metabolism of amino acids and derivatives and Selected targets of ESR1. The compounds hyaluronic acid and oxalate have been mentioned in the context of this disorder. Affiliated tissues include kidney and t cells, and related mouse phenotypes are endocrine/exocrine gland and hematopoietic system.

Aliases & Descriptions for Urolithiasis

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7diseasecard, 32Novoseek , 43UMLS
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urolithiasis 7 32 43

Related Diseases for Urolithiasis

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13GeneCards, 14GeneDecks
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Diseases related to urolithiasis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 563)
idRelated DiseaseScoreTop Affiliating Genes
1adenine phosphoribosyltransferase deficiency32.0XDH, APRT, HPRT1
2acute urate nephropathy29.9XDH, HPRT1
3nephrocalcinosis29.4NAGLU, UMOD, XDH, ALB, CASR, CA2
4primary hyperoxaluria28.6SPP1, AGXT
5lesch-nyhan syndrome28.3XDH, APRT, HPRT1, PRPS1
6hydronephrosis27.2NAGLU, MME, IL6, AMBP
7nephrolithiasis24.7NAGLU, VDR, UMOD, XDH, MME, IL1B
8osteoporosis21.4VDR, AR, IL1A, IL1B, IL1RN, IL6
9interstitial nephritis13.8UMOD, APRT
10urinary tract obstruction13.7NAGLU, UMOD, AMBP
11asphyxia neonatorum13.7NAGLU, CKB, XDH
12familial juvenile hyperuricemic nephropathy13.6UMOD, HPRT1
13hypercalciuria, absorptive13.5VDR, CASR
14purine nucleoside phosphorylase deficiency13.5APRT, HPRT1, PRPS1
15phosphoribosylpyrophosphate synthetase superactivity13.5HPRT1, PRPS1
16purine-pyrimidine metabolic disorder13.5APRT, HPRT1
17gout13.5UMOD, HPRT1
18familial hypophosphatemia13.5VDR, MME, SLC34A1
19renal tubular acidosis13.4UMOD, AMBP, CA2, SLC26A1
20lacrimal duct obstruction13.4UMOD, XDH, AMBP, TTF2
21hypertensive nephropathy13.3NAGLU, AMBP, ALB
22chronic pyelonephritis13.3NAGLU, UMOD, ALB
23lepromatous leprosy13.3VDR, IL1RN, F2
24calciphylaxis13.3ALB, CASR, SPP1
25hypouricemia13.2XDH, ALB, HPRT1
26fanconi syndrome13.2NAGLU, AMBP, ALB
27esophageal varix13.2F2, ALB
28bilirubin metabolic disorder13.2XDH, APRT, CA2, AGXT, TTF2
29secondary hyperparathyroidism of renal origin13.2VDR, ALB, CASR
30acute kidney tubular necrosis13.2AMBP, ALB, NPPA
31twin-to-twin transfusion syndrome13.2AMBP, ALB, NPPA
32twin twin transfusion syndrome13.2AMBP, ALB, NPPA
33alcoholic pancreatitis13.2XDH, NQO1, SOD2
34warfarin resistance13.2F2, ALB, TTF2
35autoimmune myocarditis13.1CCL2, SPP1, NPPA
36gastric cancer risk after h. pylori infection13.1IL1B, IL1RN
37chronic rapidly progressive glomerulonephritis13.1NAGLU, AMBP, ALB, NPPA
38mayer-rokitansky-kuster-hauser syndrome13.1VDR, APRT, CASR, HPRT1, AGXT, SOX9
39diabetic angiopathy13.1NAGLU, CCL2, SOD2
40hyperphosphatemia13.0VDR, ALB, CASR, SPP1, SLC34A1
41portal vein thrombosis13.0F2, ALB, TTF2
42hypocalcemia13.0VDR, ALB, CASR
43osteoporosis, postmenopausal13.0VDR, IL1RN, ESR1
44steroid-resistant nephrotic syndrome13.0NAGLU, CCL2, ALB
45lipoid nephrosis13.0NAGLU, CCL2, ALB, SPP1
46glycogen storage disease13.0NAGLU, CKM, F2, ALB
47hepatorenal syndrome13.0NAGLU, F2, ALB, NPPA
48interstitial lung disease13.0IL1A, IL1RN, CCL2
49primary biliary cirrhosis12.9VDR, F2, ALB, CA2
50aortic valve stenosis12.9VDR, MME, CCL2, NPPA

Graphical network of the top 20 diseases related to urolithiasis:



Graphical network of diseases related to urolithiasis

Clinical Features for Urolithiasis

Drugs & Therapeutics for Urolithiasis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Genetic Tests for Urolithiasis

Anatomical Context for Urolithiasis

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22MalaCards
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MalaCards organs/tissues related to urolithiasis:

22
Kidney, T cells

Phenotypes for genes affiliated with Urolithiasis

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25MGI
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Publications for genes affiliated with Urolithiasis

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35PubMed
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Articles related to urolithiasis:

(show top 50)    (show all 58)
idTitleAuthorsYearAffiliating Genes
1Primary hyperoxaluria type III gene HOGA1 (formerly D HDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis. (21896830)Monico C.G.... Milliner D.S.2011HOGA1
2Vitamin D receptor genetic polymorphisms and the risk of urolithiasis: a meta-analysis. (21325790)Lin Y.... Xie L.2011VDR
3The impact of osteopontin promoter polymorphisms on t he risk of calcium urolithiasis. (20144595)Liu C.C.... Wu M.T.2010SPP1
4Urolithiasis and hepatotoxicity are linked to the ani on transporter Sat1 in mice. (20160351)Dawson P.A.... Markovich D.2010SLC26A1
5Xanthine urolithiasis. (20228523)Gargah T.... Lakhoua M.R.2010XDH
6Activity and expression of vitamin K-dependent gamma- glutamyl carboxylase in patients with calcium oxalate urolithiasis. (20332604)Wang T.... Ye Z.2010GGCX
7Urolithiasis and osteoporosis: clinical relevance and therapeutic implications. (20120412)BiliA8-CurciA8 I.... Tucak-ZoriA8 S.2009SPP1
8A novel SOX9 mutation, 972delC, causes 46,XY sex-reversed campomelic dysplasia with nephrocalcinosis, urolithiasis, and dysgerminoma. (19231556)Cost N.G.... Baker L.A.2009SOX9
9Genetic mutation of vitamin K-dependent gamma-glutamy l carboxylase domain in patients with calcium oxalate urolithiasis. (19821094)Qiao J.... Ye Z.2009GGCX
10Association of urokinase gene 3'-UTR T/C polymorphism with calcium oxalate urolithiasis in children. (18240004)Ozturk M.... Oktay B.2008PLAU
11Urine fetuin-A values in relation to the presence of urolithiasis. (18190622)Stejskal D.... Stejskal P.2008ALB
12Manganese superoxide dismutase (Mn-SOD) gene polymorphisms in urolithiasis. (17628794)Tugcu V.... Tasci A.I.2007SOD2
13Xanthinuria type I: a rare cause of urolithiasis. (17115198)Arikyants N.... Steinmann B.2007XDH
14Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children. (18036039)Seyhan S.... Kordan Y.2007VDR
15Association of vitamin D receptor (Fok-I) polymorphism with the clinical presentation of calcium urolithiasis. (17419705)Liu C.C.... Wu M.T.2007VDR
16Association of interleukin-1beta gene and receptor antagonist polymorphisms with calcium oxalate urolithiasis. (18186699)Mittal R.D.... Kapoor R.2007IL1B, IL1RN
17Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. (17576085)Tsuchida S.... Tagawa M.2007XDH
18Acute renal failure due to bilateral xanthine urolithiasis in a boy with Lesch-Nyhan syndrome. (16773422)Sikora P.... Zajczkowska M.2006HPRT1
19Vitamin D receptor gene polymorphisms in patients with urolithiasis. (16397775)Gunes S.... Yilmaz A.F.2006VDR
20Is idiopathic recurrent calcium urolithiasis in males a cellular disease? Laboratory findings in plasma, urine and erythrocytes, emphasizing the absence and presence of stones, oxidative and mineral metabolism: an observational study. (16006254)Schwille P.O.... Schmiedl A.2005ALB
21Is calcium oxalate nucleation in postprandial urine o f males with idiopathic recurrent calcium urolithiasis related to calcium phosp hate nucleation and the intensity of stone formation? Studies allowing insight into a possible role of urinary free citrate and protein. (15080561)Schwille P.O.... Manoharan M.2004ALB
22Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. (15196008)Silva M.... Thiemann O.H.2004APRT
23Surface-enhanced laser desorption/ionization-time of flight-mass spectrometry (SELDI-TOF-MS): a new proteomic urinary test for patients with urolithiasis. (15103681)Cadieux P.A.... Reid G.2004SPP1
24Identification of two novel mutations in adenine phosphoribosyltransferase gene in patients with 2,8-dihydroxyadenine urolithiasis. (15571218)Taniguchi A.... Kamatani N.2004APRT
25Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. (12920632)Sikora P.... Hoppe B.2003NAGLU
26Intracrystalline proteins and urolithiasis: a synchrotron X-ray diffraction study of calcium oxalate monohydrate. (12854839)Fleming D.E.... Ryall R.L.2003F2
272,8-dihydoroxyadenine (DHA) urolithiasis: a case report (14518391)Shiba M.... Takatera H.2003APRT
28Association of vitamin D receptor gene polymorphism with urolithiasis. (11956476)Nishijima S.... Ogawa Y.2002VDR
29Urokinase gene 3'-UTR T/C polymorphism is associated with urolithiasis. (11880102)Tsai F.J.... Chen W.C.2002PLAU
30The association of androgen- and oestrogen-receptor gene polymorphisms with urolithiasis in men. (11564035)Chen W.C.... Tsai F.J.2001AR, ESR1
312,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. (11243733)Deng L.... Sahota A.2001APRT
32Exclusion mapping of major crystallization inhibitors in idiopathic calcium urolithiasis. (11547117)Cailhier J.F.... Bonnardeaux A.2001SPP1, UMOD
33Analysis of osteopontin DNA in patients with urolithiasis. (10929424)Yamate T.... Kohri K.2000SPP1
34The prothrombin gene is expressed in the rat kidney: Implications for urolithiasis research. (10601851)Grover P.K.... Ryall R.L.2000F2
35Circulating adhesion molecules and neutral endopeptidase enzymuria in patients with urolithiasis and hydronephrosis. (10840126)Huang H.... Chen C.2000MME
36Proteoglycan core protein in human urine and its possible role on calcium oxalate urolithiasis. (10585122)Yoshimura K.... Okuyama A.1999AMBP
37Urinary IL-6 is elevated in patients with urolithiasis. (9817385)Rhee E.... Bellman G.C.1998IL1A
38N-acetyl-beta-D-glucosaminidase excretion in healthy children and in pediatric patients with urolithiasis. (9870291)Balla A.A.... Hesse A.1998NAGLU
39Predisposition towards urolithiasis associated with the NQO1 null-allele. (9825838)Schulz W.A.... Sies H.1998NQO1
402,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report (9850838)Ohne T.... Uchida M.1998APRT
41Nephrocalcinosis and urolithiasis in carbonic anhydrase II deficiency syndrome. (9453381)Ismail E.A.... Sabry M.A.1997CA2
42A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis. (8646818)SevcA-k J.... MazA!covA! H.1996APRT
43Blood coagulation proteins and urolithiasis are linked: crystal matrix protein is the F1 activation peptide of human prothrombin. (7613825)Stapleton A.M.... Ryall R.L.1995F2
44Identification of a 7-basepair deletion in the adenine phosphoribosyltransferase gene as a cause of 2,8-dihydroxyadenine urolithiasis. (7981585)Bye S.... Sahota A.1994APRT
45Missense mutation in the adenine phosphoribosyltransferase gene causing 2,8-dihydroxyadenine urolithiasis. (7915931)Sahota A.... Tischfield J.A.1994APRT
46A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. (8455250)Takeuchi H.... Yoshida O.1993APRT
472,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report. (1609669)Katsuoka Y.... Ikeda T.1992APRT
48Renal insufficiency secondary to 2,8-dihydroxyadenine urolithiasis. (1516930)Gelb A.B.... Sibley R.K.1992APRT
49Paediatric urolithiasis in Greece. (2004238)Androulakakis P.A.... Aghioutantis C.1991TTF2
50Identification of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APART*Q0) leading to 2,8-dihydroxyadenine urolithiasis. (2227934)Kamatani N.... Hakoda M.1990APRT

Expression for genes affiliated with Urolithiasis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Urolithiasis

Pathways for genes affiliated with Urolithiasis

Sources:
38Reactome, 10EMD Millipore, 20KEGG, 36QIAGEN, 41Thomson Reuters
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Compounds for genes affiliated with Urolithiasis

Sources:
32Novoseek , 18HMDB, 9DrugBank, 42Tocris Bioscience, 34PharmGKB
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Compounds related to urolithiasis according to GeneDecks:

(show top 50)    (show all 229)
idCompoundScoreTop Affiliating Genes
1hyaluronic acid32 18 11.5F2
2oxalate32 10.1UMOD, SLC26A1, AGXT, SPP1, NAGLU
3phosphorus32 9.9VDR, SPP1, SLC34A1, CASR, NAGLU
4citrate32 9.7UMOD, CA2, SOD2, NAGLU, VDR, MME
5allopurinol32 9 9 11.7SOD2, NQO1, APRT, XDH, HPRT1, UMOD
6calcium oxalate32 9.7GGCX, AGXT, F2, AMBP, APRT, UMOD
7aprotinin32 9 9 11.5NAGLU, IL1A, AMBP, F2, PLAU
8h2o232 9.4XDH, NQO1, APRT, IL1RN, NAGLU, MME
9oxygen32 18 10.3CA2, GGCX, NAGLU, CKB, NQO1, TTF2
105 aminosalicylic acid32 9.2CCL2, NAGLU, XDH, IL1B, AMBP, NQO1
11vitamin a32 9 18 9 12.0NAGLU, VDR, MME, HPRT1, ALB, AMBP
12uric acid32 18 9.9NAGLU, HPRT1, UMOD, APRT, PRPS1, AMBP
13epinephrine32 9 18 9 11.9NPPA, IL1RN, PLAU, IL1A, CA2, F2
14pge232 8.8AR, IL1A, MME, IL1RN, CASR, CA2
15pdtc32 8.8SOD2, CCL2, IL6, IL1A, XDH
16ascorbic acid32 18 9.7VDR, AR, IL1A, HPRT1, SPP1, NQO1
17aspartate32 8.7SLC9A3R1, SOD2, AGXT, PLAU, NQO1, CA2
18calcitriol32 42 9 18 9 12.6SLC34A1, SOD2, PLAU, SPP1, CA2, CASR
19calcium32 9 18 9 11.5NAGLU, GGCX, CASR, SLC34A1, TTF2, AGXT
20testosterone32 9 18 9 11.4IL1A, MME, VDR, AR, IL1RN, HPRT1
21sodium32 18 9.3TTF2, NAGLU, CASR, SLC34A1, SLC9A3R1, NPPA
22heparin32 9 18 9 11.3SOD2, IL1RN, UMOD, F2, ALB, TTF2
23pentoxifylline32 9 9 10.3IL1RN, IL6, AMBP, IL1A, NAGLU, IL1B
24ribonucleic acid32 8.0SPP1, SOX9, PLAU, IL1A, MME, IL1B
25il 1032 8.0IL6, IL1RN, IL1A, IL1B, CCL2, VDR
26sodium dodecylsulfate32 7.9NPPA, PLAU, CA2, AR, ALB, AMBP
27glutamine32 7.8SOD2, SOX9, VDR, AR, IL1A, CCL2
28estrogen32 7.5ESR1, CA2, CASR, F2, IL1RN, VDR
29fibrinogen32 7.5PLAU, TTF2, IL1RN, IL6, CCL2, ALB
30cyclosporin a32 42 8.3SOD2, TTF2, SPP1, CASR, F2, NAGLU
31curcumin32 7.2CCL2, SOD2, IL6, NQO1, SPP1, HPRT1
32indomethacin32 9 9 9.2ALB, IL1RN, IL6, PLAU, SOD2, SPP1
33arginine32 7.1NPPA, IL1A, CCL2, MME, XDH, CA2
34methotrexate32 34 42 9 9 10.9ESR1, NQO1, SOD2, F2, IL6, IL1RN
35lactate32 6.9MME, XDH, CKM, CKB, NAGLU, IL1RN
36lipid32 6.6IL1RN, MME, XDH, CKM, NAGLU, ALB
37genistein32 9 18 9 9.6SOD2, VDR, AR, IL1A, IL1B, IL6
38nitric oxide32 9 18 9 9.5TTF2, SLC9A3R1, NAGLU, CKM, XDH, MME
39alanine32 6.5AGXT, SLC9A3R1, PLAU, NQO1, SPP1, CA2
40serine32 6.4SPP1, IL1RN, IL1A, CASR, AR, MME
41dexamethasone32 42 34 9 9 10.3VDR, IL1RN, SOX9, IL6, CCL2, HPRT1
42actinomycin d32 6.2SOD2, PLAU, SPP1, ESR1, CASR, CCL2
43vitamin d32 6.1TTF2, CCL2, SPP1, ESR1, CASR, ALB
44cycloheximide32 5.8IL1RN, IL1B, IL1A, AR, MME, CKB
45retinoic acid32 42 18 7.8ESR1, SOX9, PLAU, IL1A, AR, IL1B
46vegf32 5.7SOX9, CCL2, MME, AR, IL1A, IL1B
47glutamate32 INFCASR, MME, VDR, CKM, GGCX, HPRT1
48cysteine32 INFALB, CASR, NQO1, PLAU, TTF2,
49n acetylcysteine32 INFAR, F2, PLAU, , NQO1, NAGLU
50creatinine32 INFAMBP, CCL2, APRT, IL1RN, IL1A, CKM

GO Terms for genes affiliated with Urolithiasis

Sources:
12Gene Ontology
See all sources

Cellular components related to urolithiasis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055766.4NPPA, IL1A, IL1B, IL6, CCL2, AMBP
2extracellular spaceGO:0056156.1PLAU, IL1A, IL1B, IL1RN, IL6, CCL2

Biological processes related to urolithiasis according to GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1glyoxylate catabolic processGO:00943610.4HOGA1, AGXT
2purine ribonucleoside salvageGO:00616610.2APRT, HPRT1
3purine nucleobase metabolic processGO:00614410.1XDH, APRT, HPRT1, PRPS1
4lactationGO:00759510.1VDR, XDH, APRT
5chronic inflammatory response to antigenic stimulusGO:0024399.9IL1B, IL1RN
6fever generationGO:0016609.9IL1A, IL1B
7response to ozoneGO:0101939.6IL1A, IL1B
8protein kinase B signaling cascadeGO:0434919.6IL1B, CCL2, SOX9
9neutrophil chemotaxisGO:0305939.5SPP1, CCL2, IL1B
10response to organic nitrogenGO:0102439.5IL1B, IL1A, IL1RN
11regulation of vascular endothelial growth factor productionGO:0105749.4CCL2, IL6
12response to gamma radiationGO:0103329.4IL1A, IL1B, CCL2
13acute-phase responseGO:0069538.9F2, IL6, IL1RN
14positive regulation of interleukin-6 productionGO:0327558.9IL1B, IL6, IL1A
15response to glucocorticoid stimulusGO:0513848.6AGXT, IL1B, CCL2, IL6, IL1RN
16negative regulation of cell proliferationGO:0082858.4SLC9A3R1, SOD2, VDR, UMOD, IL1A, IL1B
17negative regulation of apoptotic processGO:0430668.3IL1RN, IL6, ALB, SOD2, AR, SOX9
18positive regulation of transcription from RNA polymerase II promoterGO:0459447.1SOX9, ESR1, IL6, IL1B, AR, VDR
19small molecule metabolic processGO:044281INFALB, AGXT, NQO1, HPRT1, CA2, NAGLU

Molecular functions related to urolithiasis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1creatine kinase activityGO:00411110.2CKM, CKB
2interleukin-1 receptor bindingGO:0051499.4IL1RN, IL1B, IL1A
3beta-catenin bindingGO:0080138.9SLC9A3R1, SOX9, ESR1, AR
4receptor bindingGO:0051028.3SLC9A3R1, NPPA, AGXT, F2, CCL2, AR

Sources for Urolithiasis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS