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, 33MedlinePlus, 60UMLS, 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, Heart, Colon, Spinal cord, Liver, Small intestine, Adrenal gland, Uterus

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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50PubMed
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Articles related to Nephrolithiasis:

(show top 50)    (show all 574)
idTitleAuthorsYear
1
Impact of statins on nephrolithiasis in hyperlipidemic patients: a 10-year review of an equal access health care system. (23195830)
2013
2
Risk factors for urinary stones in healthy schoolchildren with and without a family history of nephrolithiasis. (23212561)
2013
3
Nephrolithiasis in "back-to-back" kidneys. (24295268)
2013
4
Development of nephrolithiasis in a renal transplant patient during treatment with Cinacalcet. (23792498)
2013
5
Decreased transcriptional activity of calcium-sensing receptor gene promoter 1 is associated with calcium nephrolithiasis. (23864702)
2013
6
A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population. (23719187)
2013
7
The impact of obesity on urine composition and nephrolithiasis management. (22967041)
2013
8
Nephrolithiasis: Endocrine evaluation. (22470859)
2012
9
An 11-year-old child with autosomal dominant polycystic kidney disease who presented with nephrolithiasis. (22567016)
2012
10
Raltegravir-induced nephrolithiasis: a case report. (22706013)
2012
11
Cost-effectiveness of primary prevention strategies for nephrolithiasis. (21683379)
2011
12
Crystal/cell interaction and nephrolithiasis. (21585160)
2011
13
Preauricular sinus, nephrolithiasis, infantine eczema and natal tooth: a new association. (21398203)
2011
14
E-cadherin gene 3'-UTR C/T polymorphism in Turkish patients with nephrolithiasis. (21161401)
2011
15
Nephrolithiasis: evaluation and management. (21258231)
2011
16
Genome-wide analysis of genes related to kidney stone formation and elimination in the calcium oxalate nephrolithiasis model mouse: detection of stone-preventive factors and involvement of macrophage activity. (19113933)
2009
17
The calcium-sensing receptor promotes urinary acidification to prevent nephrolithiasis. (19470676)
2009
18
Dual-source computed tomography for the evaluation of nephrolithiasis. (19720363)
2009
19
Modern bariatric surgery and nephrolithiasis--are we on the verge of a new epidemic? (18076950)
2008
20
Nephrolithiasis: introduction. (18359390)
2008
21
The role of SLC26A6-mediated chloride/oxalate exchange in causing susceptibility to nephrolithiasis. (18310129)
2008
22
Hyperoxaluric nephrolithiasis is a complication of Roux-en-Y gastric bypass surgery. (17377509)
2007
23
2,8-dihydroxyadenine nephrolithiasis: from diagnosis to therapy]. (18039602)
2007
24
Management of nephrolithiasis after Cohen cross-trigonal and Glenn-Anderson advancement ureteroneocystostomy. (17162032)
2007
25
Hyperoxaluria, hypocitraturia, hypomagnesiuria, and lack of intestinal colonization by Oxalobacter formigenes in a cervical spinal cord injury patient with suprapubic cystostomy, short bowel, and nephrolithiasis. (17619709)
2006
26
Randall's plaque: pathogenesis and role in calcium oxalate nephrolithiasis. (16614720)
2006
27
Reduced renal function and benefits of treatment in cystinuria vs other forms of nephrolithiasis. (16686727)
2006
28
Nephrolithiasis as primary symptom in sarcoidosis. (16019774)
2005
29
Adenomatoid tumour of the left adrenal gland with concurrent left nephrolithiasis and left kidney cyst. (16194858)
2005
30
Pseudoxanthoma elasticum and nephrolithiasis. (15752294)
2005
31
Urolithiasis/nephrolithiasis: what's it all about? (16438249)
2005
32
Segregation of urine calcium excretion in families ascertained for nephrolithiasis: evidence for a major gene. (16105027)
2005
33
Enteric hyperoxaluria, nephrolithiasis, and oxalate nephropathy: potentially serious and unappreciated complications of Roux-en-Y gastric bypass. (16925274)
2005
34
Nephrolithiasis and nephrocalcinosis in rats with small bowel resection. (15815943)
2005
35
Occupational risk for nephrolithiasis and bladder dysfunction in a chauffeur. (14576963)
2004
36
Sulfadiazine-induced nephrolithiasis detected by spiral CT scan. (15025231)
2004
37
Absence or decreased endogenous thiosulfaturia: a cause of recurrent calcium nephrolithiasis. (15787343)
2004
38
Relationship among risk factors for nephrolithiasis, cardiovascular disease, and ethnicity: focus on a law enforcement cohort. (15068102)
2004
39
Nephrolithiasis and pregnancy. (15075842)
2004
40
Studies of urinary cystine precipitation in vitro: ontogeny of cystine nephrolithiasis and identification of meso-2,3-dimercaptosuccinic acid as a potential therapy for cystinuria. (14654355)
2003
41
Oxaluria--the neglected stepchild of nephrolithiasis? (12853785)
2003
42
Outcome and safety of extracorporeal shock wave lithotripsy as first-line therapy of lower pole nephrolithiasis. (14646431)
2003
43
Hyperuricosuric calcium nephrolithiasis. (12474638)
2002
44
Chronic renal failure associated with nephrolithiasis, ureterolithiasis, and renal dysplasia in a 2-year-old quarter horse gelding. (10463829)
1999
45
Anuria and acute renal failure resulting from indinavir sulfate induced nephrolithiasis. (9649271)
1998
46
Calciotropic hormones and nephrolithiasis. (9387131)
1997
47
Effects of the oral administration of glycosaminoglycans on cellular abnormalities associated with idiopathic calcium oxalate nephrolithiasis. (2060558)
1991
48
Case history of a prune-belly syndrome with extracorporeal shock wave lithotripsy treatment of allograft nephrolithiasis. (2658239)
1989
49
Nephrolithiasis and nephrocalcinosis in children. (5635487)
1968
50
INVESTIGATION OF NEPHROCALCINOSIS AND NEPHROLITHIASIS. (14318720)
1965

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