MCID: NPH009
MIFTS: 59

Nephrolithiasis malady

Nephrological diseases category

Summaries for Nephrolithiasis

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33MedlinePlus, 63Wikipedia, 46OMIM, 32MalaCards
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MedlinePlus:33 A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. it may be as small as a grain of sand or as large as a pearl. most kidney stones pass out of the body without help from a doctor. but sometimes a stone will not go away. it may get stuck in the urinary tract, block the flow of urine and cause great pain. the following may be signs of kidney stones that need a doctor's help: extreme pain in your back or side that will not go away blood in your urine fever and chills vomiting urine that smells bad or looks cloudy a burning feeling when you urinate your doctor will diagnose a kidney stone with urine, blood, and imaging tests. if you have a stone that won't pass on its own, you may need treatment. it can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. nih: national institute of diabetes and digestive and kidney diseases

MalaCards: Nephrolithiasis, also known as kidney stones, is related to nephrocalcinosis and dent's disease. An important gene associated with Nephrolithiasis is CLCN5 (chloride channel, voltage-sensitive 5), and among its related pathways are Type II Na+/Pi cotransporters and Purine metabolism. The compounds 2,8-dihydroxyadenine and Alpha-Phosphoribosylpyrophosphoric Acid have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related mouse phenotypes are skeleton and reproductive system.

Wikipedia:63 A kidney stone, also known as a renal calculus (from the Latin rēnēs, \"kidneys,\" and calculus,... more...

Description from OMIM:46 167030

Aliases & Classifications for Nephrolithiasis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 33MedlinePlus, 56SNOMED-CT, 27ICD9CM, 34MeSH, 46OMIM, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological diseases


Aliases & Descriptions:

nephrolithiasis 8 10 44 60
kidney stones 8 33
nephrolithiasis, calcium oxalate 8
urolithiasis, calcium oxalate 8
calculus of kidney and ureter 8
stone - kidney/ureter 8
kidney calculi 60


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Disease Ontology8 DOID:585
ICD9CM27 592
MeSH34 D053040
OMIM46 167030
ICD1025 N20

Related Diseases for Nephrolithiasis

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17GeneCards, 18GeneDecks
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Diseases in the Nephrolithiasis family:

Nephrolithiasis, Type I

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

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis30.6UMOD, NR1I3, AGXT, CLDN16, CLCN5, CLCNKB
2dent's disease30.5CLCNKB, CLCN5
3hypertension30.5PTH
4obesity30.5NR1I3
5pyelonephritis30.3UMOD
6hypophosphatemia30.2FGF23, CLCN5, SLC34A1, SLC34A3, PTH
7acute urate nephropathy30.2ZNF365
8hyperuricemia30.1APRT, UMOD, XDH, HPRT1
9osteoporosis30.1CASR, NR1I3, FGF23, PTH, SPP1
10hyperparathyroidism30.1CASR, NR1I3, FGF23, PTH
11rickets30.1CASR, PTH
12gout30.1APRT, UMOD, XDH, HPRT1
13nephrolithiasis/osteoporosis, hypophosphatemic, 230.0BP50, SLC9A3R1
14primary hyperparathyroidism30.0CASR, NR1I3, FGF23, PTH
15hypercalcemia30.0PTH, FGF23, NR1I3, CASR
16hypoparathyroidism29.9CASR, NR1I3, FGF23, PTH
17atherosclerosis29.9CASR, XDH, FGF23, SPP1
18osteitis fibrosa29.9PTH, CASR
19hepatitis29.7XDH
20x-linked hypophosphatemia29.7FGF23, CLCN5, SLC34A1, SLC34A3
21lesch-nyhan syndrome29.7HPRT1, XDH, APRT
22pneumonia29.7XDH
23primary hyperoxaluria29.7AGXT, SPP1
24diabetes mellitus29.7CASR, UMOD, RHD, PTH
25metabolic acidosis29.7PTH
26kidney disease10.4
27ureterolithiasis10.3
28alkaptonuria10.3
29cystinuria10.3
30polycystic kidney disease10.2
31autosomal dominant disease10.2
32polycystic kidney disease, autosomal dominant10.2
33hypophosphatemic nephrolithiasis/osteoporosis, 110.2
34medullary sponge kidney10.2
35renal tubular acidosis10.2
36nephrolithiasis, type i10.2
37glycogen storage disease10.1
38x-linked disease10.1
39hypocalcemia, autosomal dominant10.1
40intestinal disease10.1
41thalassemia10.1
42ureteral obstruction10.0
43anuria10.0
44cystic fibrosis10.0
45pseudoxanthoma elasticum10.0
46xanthogranulomatous pyelonephritis10.0
47hydronephrosis10.0
48acute pyelonephritis10.0
49duchenne muscular dystrophy10.0
50hypokalemia10.0

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to nephrolithiasis

Clinical Features for Nephrolithiasis

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46OMIM
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Clinical features from OMIM:

167030

Drugs & Therapeutics for Nephrolithiasis

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

Search CenterWatch for Nephrolithiasis

Drug clinical trials:

Search ClinicalTrials for Nephrolithiasis

Search NIH Clinical Center for Nephrolithiasis

Search CenterWatch for Nephrolithiasis

Genetic Tests for Nephrolithiasis

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Anatomical Context for Nephrolithiasis

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30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Nephrolithiasis:

32
Kidney, Testes, Bone, Liver, Spinal cord, Colon, Heart, Small intestine, Uterus, Adrenal gland

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

Cells/anatomical compartments in embryo or adult related to Nephrolithiasis:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Nephrolithiasis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Nephrolithiasis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000539010.3UMOD, FGF23, CLCN5, SLC9A3R1, SLC34A1, SLC34A3
2MP:000538910.3NR1I3, HPRT1, FGF23, SLC9A3R1, SLC34A1, SPP1
3MP:000536710.3SPP1, CASR, APRT, UMOD, AGXT, XDH
4MP:000537610.2XDH, AGXT, NR1I3, RHD, UMOD, APRT
5MP:000537810.1XDH, NR1I3, UMOD, APRT, CASR, HPRT1
6MP:000538710.1CASR, APRT, UMOD, XDH, HPRT1, FGF23
7MP:00053979.9CASR, APRT, UMOD, RHD, HPRT1, FGF23

Publications for Nephrolithiasis

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Sources:
50PubMed
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Articles related to Nephrolithiasis:

(show top 50)    (show all 574)
idTitleAuthorsYear
1
Medical management strategies to prevent recurrent nephrolithiasis are stagnant and stronger evidence is needed to reduce morbidity. (23749601)
2014
2
Medical management to prevent recurrent nephrolithiasis in adults: a systematic review for an American College of Physicians Clinical Guideline. (23546565)
2013
3
You're the flight surgeon: nephrolithiasis. (23745299)
2013
4
Patient-centered medical therapy for nephrolithiasis. (23452804)
2013
5
Diosmin reduces calcium oxalate deposition and tissue degeneration in nephrolithiasis in rats: a stereological study. (23614063)
2013
6
In vivo Drosophilia genetic model for calcium oxalate nephrolithiasis. (22993075)
2012
7
Re: McPhail et al.: Nephrolithiasis in medullary sponge kidney: evaluation of clinical and metabolic features. (Urology 2012;79:277-281). (23206796)
2012
8
The association of cardiovascular disease and metabolic syndrome with nephrolithiasis. (22262248)
2012
9
Challenges in the diagnostic and therapeutic approach to nephrolithiasis. (22257797)
2012
10
Antiurolithiatic Effects of Solanum xanthocarpum Fruit Extract on Ethylene-Glycol-Induced Nephrolithiasis in Rats. (23112535)
2012
11
Biochemical determinants of severe lithogenic activity in patients with idiopathic calcium nephrolithiasis. (21908029)
2012
12
Calcium nephrolithiasis, metabolic syndrome and the cardiovascular risk. (22645324)
2012
13
Nephrolithiasis and renal calcifications in primary hyperparathyroidism. (21646371)
2011
14
Characteristic clinical and biochemical profile of recurrent calcium-oxalate nephrolithiasis in patients with metabolic syndrome. (21051502)
2011
15
Nutritional aspects of idiopathic nephrolithiasis in Tunisian children. (22187743)
2011
16
Stones: Safety guidewire unnecessary during flexible ureteroscopy for routine cases of nephrolithiasis. (21188773)
2010
17
Association of nephrolithiasis and gene for glucose transporter type 9 (SLC2A9): study of 145 patients. (20162745)
2010
18
Imaging evaluation and treatment of nephrolithiasis: an update. (20862880)
2010
19
Recent advances in the pathophysiology of nephrolithiasis. (19078968)
2009
20
Association of nephrolithiasis prevalence rates with ambient temperature in the United States: a re-analysis. (19752864)
2009
21
Silicate nephrolithiasis after ingestion of supplements containing silica dioxide. (19100669)
2009
22
Asymptomatic nephrolithiasis detected by ultrasound. (19261817)
2009
23
Attitude to nephrolithiasis in the potential living kidney donor: a survey of the German kidney transplant centers and review of the literature. (18318734)
2008
24
The association of nephrolithiasis with hypertension and obesity: a review. (18219300)
2008
25
Quality of life of patients with nephrolithiasis and recurrent painful renal colic. (17522476)
2007
26
Association of osteopontin gene haplotypes with nephrolithiasis. (17519954)
2007
27
Myth: nephrolithiasis and medical expulsive therapy. (18072994)
2007
28
Clinical and biochemical profile of patients with "pure" uric acid nephrolithiasis compared with "pure" calcium oxalate stone formers. (17786420)
2007
29
Association of urokinase gene 3'-UTR polymorphism with calcium oxalate nephrolithiasis. (16509805)
2006
30
ACP Best Practice No 181: Chemical pathology clinical investigation and management of nephrolithiasis. (15677531)
2005
31
International comparison of cost effectiveness of medical management strategies for nephrolithiasis. (15924256)
2005
32
Decreased renal function among adults with a history of nephrolithiasis: a study of NHANES III. (15673317)
2005
33
Nephrolithiasis in a worker with cadmium exposure in the past. (16001205)
2005
34
Cost-effectiveness of medical management strategies for nephrolithiasis. (15538248)
2004
35
The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis. (15213319)
2004
36
Nephrolithiasis associated with ceftriaxone therapy: a prospective study in 51 children. (15499067)
2004
37
Metabolic risk factors and the impact of medical therapy on the management of nephrolithiasis in obese patients. (15201761)
2004
38
Nephrolithiasis: why doesn't our "learning" progress? (15082194)
2004
39
Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. (12534929)
2003
40
Bone mineral density and urine calcium excretion among subjects with and without nephrolithiasis. (12631132)
2003
41
Medical treatment of nephrolithiasis. (12474645)
2002
42
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. (10720930)
2000
43
Cystinuria subtype and nephrolithiasis. (10411831)
1999
44
Tamm-Horsfall glycoprotein and calcium nephrolithiasis. (7783702)
1994
45
Pathogenesis and management of hypercalciuric nephrolithiasis. (7783695)
1994
46
Postpartum anuria caused by silent bilateral nephrolithiasis. (3425236)
1987
47
Incidence of radiographically evident bone disease, nephrocalcinosis, and nephrolithiasis in various types of renal tubular acidosis. (7088070)
1982
48
Nephrocalcinosis and nephrolithiasis in children. (627116)
1978
49
TREATMENT OF THE ADULT FANCONI SYNDROME WITH ORAL PHOSPHATE SUPPLEMENTS AND ALKALI. REPORT OF TWO CASES ASSOCIATED WITH NEPHROLITHIASIS. (14072374)
1963
50
WEEKLY clinicopathological exercise; carbuncle of kidney; nephrolithiasis. (15423695)
1950

Genetic Variations for Nephrolithiasis

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Expression for genes affiliated with Nephrolithiasis

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

Search GEO for disease gene expression data for Nephrolithiasis.

Pathways for genes affiliated with Nephrolithiasis

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53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Nephrolithiasis

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44Novoseek, 11DrugBank, 49PharmGKB, 24HMDB, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
12,8-dihydroxyadenine4410.8APRT, XDH, HPRT1
2Alpha-Phosphoribosylpyrophosphoric Acid1110.8APRT, HPRT1
36-thiouric acid4410.8XDH, HPRT1
4purine nucleoside4410.8HPRT1, XDH, APRT
5allopurinol44 49 1112.8APRT, UMOD, XDH, HPRT1
6calcium oxalate4410.8APRT, UMOD, AGXT, SPP1
7oxalate4410.8UMOD, RHD, AGXT, SPP1
8inosine44 2411.8HPRT1, XDH, APRT
9sevelamer4410.8FGF23, CASR
10uric acid44 2411.8APRT, UMOD, XDH, HPRT1, SPP1
11chloride4410.8CASR, CLCN5, CLCNKB, SLC9A3R1, SLC34A1
12hypoxanthine44 11 2412.8APRT, XDH, HPRT1
13ethyl methanesulfonate4410.8HPRT1, APRT
14neomycin4410.7CASR, NR1I3, HPRT1, SPP1
15hydroxyapatite4410.7SPP1, FGF23, UMOD, CASR
1625-hydroxyvitamin d4410.7CASR, FGF23, PTH, SPP1
17benzo(a)pyrene4410.7HPRT1, NR1I3, APRT
18phosphorus4410.7SPP1, PTH, SLC34A1, FGF23, NR1I3, CASR
191,25 dihydroxy vitamin d34410.7CASR, NR1I3, FGF23, SLC34A1, PTH, SPP1
20spermine44 28 11 2413.7CASR, NR1I3, XDH
21xanthine44 2411.7HPRT1, XDH, APRT
22h2o24410.7APRT, RHD, XDH, HPRT1, CLCN5, SPP1
23calcitriol44 59 11 2413.7CASR, NR1I3, FGF23, SLC34A1, PTH, SPP1
24vitamin d4410.7CASR, NR1I3, FGF23, SLC34A1, PTH, SPP1
25sodium44 2411.7CASR, UMOD, NR1I3, CLCNKB, SLC9A3R1, SLC34A1
26magnesium44 11 2412.6CASR, UMOD, NR1I3, HPRT1, CLDN16, CLCNKB
27creatinine4410.6CASR, APRT, UMOD, HPRT1, FGF23, CLCN5
28cinacalcet44 28 1112.6CASR, NR1I3
29serine4410.6CASR, RHD, NR1I3, HPRT1, FGF23, SLC3A1
30arginine4410.6CASR, NR1I3, XDH, HPRT1, FGF23, SLC3A1
31cysteine4410.6CASR, UMOD, AGXT, XDH, HPRT1, SLC3A1
32gadolinium4410.6CASR, NR1I3
33foscarnet44 1111.6SLC34A1, SPP1
34phenylalanine4410.6CASR, NR1I3, FGF23, SLC3A1
35o6-benzylguanine4410.6AGXT, HPRT1
36glutamate4410.6CASR, NR1I3, AGXT, HPRT1, SLC3A1, SPP1
37adenylate4410.6PTH, HPRT1, RHD, APRT, CASR
38tiazofurin4410.6XDH, HPRT1
39ribonucleic acid4410.6CASR, NR1I3, PTH, SPP1
40alanine4410.6CASR, NR1I3, AGXT, SLC9A3R1, SLC3A1, SPP1
41mercaptopurine49 1111.5XDH, HPRT1
42calcium44 49 11 2413.5FGF23, AGXT, NR1I3, RHD, UMOD, CASR
432-amino-3-methylimidazo(4,5-f)quinoline4410.5HPRT1, APRT
44bpde4410.4HPRT1, APRT
45purine44 2411.4APRT, XDH, HPRT1
46pamidronate44 49 1112.3PTH, CASR
47potassium44 11 2412.0PTH, CLCNKB, UMOD, CASR

GO Terms for genes affiliated with Nephrolithiasis

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16Gene Ontology
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Cellular components related to Nephrolithiasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.3SLC3A1, SLC34A1, CLCNKB, CLCN5, RHD, CASR

Biological processes related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cellular phosphate ion homeostasisGO:03064310.6SLC34A3, SLC9A3R1, FGF23
2purine nucleobase metabolic processGO:00614410.6APRT, XDH, HPRT1
3adenine salvageGO:00616810.6APRT, HPRT1
4excretionGO:00758810.6CLCNKB, CLCN5, CLDN16, UMOD
5phosphate ion homeostasisGO:05506210.6FGF23, SLC34A1
6purine ribonucleoside salvageGO:00616610.5APRT, HPRT1
7phosphate ion transportGO:00681710.5SLC34A3, SLC34A1
8grooming behaviorGO:00762510.4HPRT1, APRT
9transmembrane transportGO:05508510.4CLCN5, CLCNKB, SLC34A1, SLC34A3, SLC3A1
10nucleobase-containing small molecule metabolic processGO:05508610.3HPRT1, XDH, APRT
11purine-containing compound salvageGO:04310110.1HPRT1, APRT

Molecular functions related to Nephrolithiasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1voltage-gated chloride channel activityGO:00524710.4CLCNKB, CLCN5
2sodium-dependent phosphate transmembrane transporter activityGO:01532110.1SLC34A3, SLC34A1

Products for genes affiliated with Nephrolithiasis

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Sources for Nephrolithiasis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet