MCID: NPH009
MIFTS: 51

Nephrolithiasis malady

Genetic diseases (common), Nephrological diseases categories

Summaries for Nephrolithiasis

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MedlinePlus:32 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 based summary: Nephrolithiasis, also known as nephrolithiasis, calcium oxalate, is related to dent disease and acute urate nephropathy, and has symptoms including hyperoxaluriaand calcium oxalate nephrolithiasis. An important gene associated with Nephrolithiasis is CLCN5 (chloride channel, voltage-sensitive 5), and among its related pathways are Hepatic ABC Transporters and Glucuronidation. The compounds 6-thiouric acid and ethyl methanesulfonate have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related mouse phenotypes are skeleton and no phenotypic analysis.

Wikipedia:63 A kidney stone, also known as a renal calculus or nephrolith, is a calculus formed in the kidneys from... more...

Aliases & Classifications for Nephrolithiasis

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Nephrolithiasis, Aliases & Descriptions:

Name: Nephrolithiasis 30 9 11 43 60
Nephrolithiasis, Calcium Oxalate 9 60
Kidney Stones 9 32
Urolithiasis, Calcium Oxalate 9
 
Calculus of Kidney and Ureter 9
Stone - Kidney/ureter 9
Kidney Calculi 60
Renal Stone 43


Classifications:

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


External Ids:

Disease Ontology9 DOID:585
ICD9CM27 592
MeSH33 D053040
ICD1025 N20

Related Diseases for Nephrolithiasis

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Diseases in the Nephrolithiasis family:

Nephrolithiasis, Type I

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

(show top 50)    (show all 182)
idRelated DiseaseScoreTop Affiliating Genes
1dent disease30.7CLCNKB, CLCN5
2acute urate nephropathy30.4XDH, HPRT1
3hypophosphatemic rickets with hypercalciuria30.3SLC34A3
4nephrocalcinosis30.2SLC34A1, SLC34A3, CLCNKB, CLCN5
5primary hyperoxaluria30.2CLCN5, APRT
6gout30.1XDH, HPRT1, APRT
7hypophosphatemia30.1SLC34A1, SLC34A3, CLCN5
8rickets30.1SLC34A3, CLCN5
9hyperuricemia30.0HPRT1, APRT, XDH
10hprt-related gout30.0HPRT1, APRT
11lesch-nyhan syndrome29.9APRT, HPRT1, XDH
12nephrolithiasis, type i10.4
13kidney disease10.4
14cystinuria10.3
15obesity10.3
16medullary sponge kidney10.3
17ureterolithiasis10.3
18nephrolithiasis/osteoporosis, hypophosphatemic, 110.3
19nephrolithiasis/osteoporosis, hypophosphatemic, 210.3
20polycystic kidney disease10.3
21pyelonephritis10.3
22renal tubular acidosis10.2
23adenine phosphoribosyltransferase deficiency10.2
24glycogen storage disease10.2
25hyperparathyroidism10.2
26tuberculosis10.2
27urogenital tuberculosis10.2
28osteoporosis10.1
29nephrolithiasis, uric acid10.1
30hypophosphatemic rickets10.1
31thalassemia10.1
32primary hyperparathyroidism10.1
33dominant hypophosphatemia with nephrolithiasis or osteoporosis10.1
34xanthinuria10.1APRT, XDH
35immunodeficiency due to purine nucleoside phosphorylase deficiency10.1HPRT1, APRT
36bartter disease10.0CLCNKB, CLCN5
37hyperparathyroidism, familial primary10.0
38multiple endocrine neoplasia 110.0
39atherosclerosis10.0
40cataract10.0
41hypoparathyroidism10.0
42cholesterol embolism10.0
43chronic pyelonephritis10.0
44kidney cancer10.0
45spondyloarthropathy10.0
46uterine fibroid10.0
47polycystic kidney disease, autosomal dominant10.0
48familial hypertension10.0
49autonomic dysfunction10.0
50hypotonia-cystinuria syndrome10.0

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to nephrolithiasis

Symptoms for Nephrolithiasis

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HPO human phenotypes related to Nephrolithiasis:

id Description Frequency HPO Source Accession
1 hyperoxaluria HP:0003159
2 calcium oxalate nephrolithiasis HP:0008672

Drugs & Therapeutics for Nephrolithiasis

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Drug clinical trials:

Search ClinicalTrials for Nephrolithiasis

Search NIH Clinical Center for Nephrolithiasis

Genetic Tests for Nephrolithiasis

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Anatomical Context for Nephrolithiasis

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MalaCards organs/tissues related to Nephrolithiasis:

31
Kidney, Testes, Bone, Spinal cord, Heart, Colon, Liver, Small intestine, Adrenal gland, Uterus, Neutrophil

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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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MGI Mouse Phenotypes related to Nephrolithiasis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6CLCN5, SLC34A3, SLC9A3R1, SLC34A1
2MP:00030128.5SLC34A1, HPRT1, CLCN5, XDH
3MP:00053677.1SLC34A1, CLCN5, HPRT1, SLC34A3, SLC9A3R1, XDH
4MP:00053767.0HPRT1, SLC34A1, SLC9A3R1, XDH, APRT, SLC34A3

Publications for Nephrolithiasis

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Articles related to Nephrolithiasis:

(show top 50)    (show all 607)
idTitleAuthorsYear
1
Pathfast presepsin assay for early diagnosis of systemic inflammatory response syndrome in patients with nephrolithiasis. (25722986)
2015
2
Topiramate and Nephrolithiasis: A Comment. (25876461)
2015
3
Does hypertension impact 24-hour urine parameters in patients with nephrolithiasis? (25733263)
2015
4
Nephrolithiasis in pediatric hematopoietic cell transplantation with up to 40 years of follow-up. (24038785)
2014
5
Digital Tomosynthesis: A New Technique forA Imaging Nephrolithiasis. Specific Organ Doses and Effective Doses Compared With Renal Stone Protocol Noncontrast Computed Tomography. (24246323)
2013
6
Occurrence of nephrolithiasis in a population of longsnout seahorse, Hippocampus reidi Ginsburg, and analysis of a nephrolith. (23110395)
2013
7
Nephrolithiasis in beta thalassemia major patients treated with deferasirox: an advent or an adverse event? A single Greek center experience. (22933235)
2013
8
Thalassemia bone disease: the association between nephrolithiasis, bone mineral density and fractures. (23291906)
2013
9
Association of pyuria and clinical characteristics with the presence of urinary tract infection among patients with acute nephrolithiasis. (23850311)
2013
10
Pathomechanisms of nephrolithiasis. (24376311)
2013
11
Drosophila melanogaster as an emerging translational model of human nephrolithiasis. (23500641)
2013
12
In vivo Drosophilia genetic model for calcium oxalate nephrolithiasis. (22993075)
2012
13
Re: McPhail et al.: Nephrolithiasis in medullary sponge kidney: evaluation of clinical and metabolic features. (Urology 2012;79:277-281). (23206796)
2012
14
Splenectomy is a risk factor for developing hyperuricemia and nephrolithiasis in patients with thalassemia intermedia: a retrospective study. (22705193)
2012
15
Beware the low urine pH--the major cause of the increased prevalence of nephrolithiasis in the patient with type 2 diabetes. (21992452)
2012
16
Cost-effectiveness of primary prevention strategies for nephrolithiasis. (21683379)
2011
17
Re: nephrolithiasis-associated bone disease: pathogenesis and treatment options. (22088709)
2011
18
Need for emergent studies on dietary factors among infancy nephrolithiasis. (22184837)
2011
19
Crystal/cell interaction and nephrolithiasis. (21585160)
2011
20
A hierarchical Bayesian approach for risk assessment of melamine in infant formula based on cases of related nephrolithiasis in children. (21337233)
2011
21
Nephrobronchial fistula complicating neglected nephrolithiasis and xanthogranulomatous pyelonephritis. (21566318)
2011
22
Stones: Safety guidewire unnecessary during flexible ureteroscopy for routine cases of nephrolithiasis. (21188773)
2010
23
A retrospective evaluation of Randall's plaque theory of nephrolithiasis with CT attenuation values. (18947952)
2009
24
Recent advances in the pathophysiology of nephrolithiasis. (19078968)
2009
25
Modern bariatric surgery and nephrolithiasis--are we on the verge of a new epidemic? (18076950)
2008
26
Re: Ethnic differences in relative risk of idiopathic calcium nephrolithiasis in North America. A. Mente, R. J. Honey, J. R. McLaughlin, S. B. Bull and A. G. Logan. J Urol 2007; 178: 1992-1997. (18501930)
2008
27
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
28
Long-term lemonade based dietary manipulation in patients with hypocitraturic nephrolithiasis. (17382731)
2007
29
Adverse metabolic side effects of thiazides: implications for patients with calcium nephrolithiasis. (17382697)
2007
30
The use of alpha-blockers for the treatment of nephrolithiasis. (17216000)
2006
31
Nephrolithiasis as primary symptom in sarcoidosis. (16019774)
2005
32
Nephrolithiasis and hematuria--sometimes a stony road to diagnosis. (16114792)
2005
33
Fatty acids and idiopathic calcium nephrolithiasis. (16123560)
2005
34
Hypophosphatemia and calcium nephrolithiasis. (15499207)
2004
35
ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. (15492945)
2004
36
Sodium dicarboxylate cotransporter-1 expression in renal tissues and its role in rat experimental nephrolithiasis. (15151257)
2004
37
A review of the heritability of idiopathic nephrolithiasis. (15280397)
2004
38
Recurrent calcium nephrolithiasis associated with primary aldosteronism. (15211456)
2004
39
Occupational risk for nephrolithiasis and bladder dysfunction in a chauffeur. (14576963)
2004
40
Oxalate binding proteins in calcium oxalate nephrolithiasis. (12856168)
2003
41
Helical CT for nephrolithiasis and ureterolithiasis: comparison of conventional and reduced radiation-dose techniques. (14526095)
2003
42
Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. (12534929)
2003
43
Medical treatment of nephrolithiasis. (12474645)
2002
44
Primary hyperoxaluria: a rare but important cause of nephrolithiasis. (12055367)
2002
45
Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. (10373326)
1999
46
Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement. (9249793)
1997
47
Role of calcium oxalate monohydrate crystal interactions with renal epithelial cells in the pathogenesis of nephrolithiasis: a review. (9813629)
1996
48
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. (8099916)
1993
49
Obstructive nephrolithiasis and ureterolithiasis associated with chronic renal failure in horses: eight cases (1981-1987). (2200763)
1990
50
Case history of a prune-belly syndrome with extracorporeal shock wave lithotripsy treatment of allograft nephrolithiasis. (2658239)
1989

Variations for Nephrolithiasis

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Expression for genes affiliated with Nephrolithiasis

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Search GEO for disease gene expression data for Nephrolithiasis.

Pathways for genes affiliated with Nephrolithiasis

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Pathways related to Nephrolithiasis according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5CLCNKB, CLCN5
2
Show member pathways
9.5HPRT1, XDH
3
Show member pathways
guanosine nucleotides de novo biosynthesis36
guanosine ribonucleotides de novo biosynthesis36
adenosine ribonucleotides de novo biosynthesis36
purine nucleotides de novo biosynthesis36
9.5HPRT1, APRT
4
Show member pathways
UTP and CTP dephosphorylation II36
ATP ITP metabolism58
purine deoxyribonucleosides salvage36
9.0XDH, APRT, HPRT1
5
Show member pathways
purine deoxyribonucleosides degradation36
purine nucleotides degradation36
adenine and adenosine salvage II36
adenine and adenosine salvage III36
oxidized GTP and dGTP detoxification36
urate biosynthesis/inosine 5-phosphate degradation36
adenine and adenosine salvage I36
purine ribonucleosides degradation to ribose-1-phosphate36
inosine-5-phosphate biosynthesis36
guanosine nucleotides degradation36
guanine and guanosine salvage36
adenosine nucleotides degradation36
5-aminoimidazole ribonucleotide biosynthesis36
9.0HPRT1, APRT, XDH
6
Show member pathways
8.3SLC34A1, SLC34A3, CLCNKB, CLCN5

Compounds for genes affiliated with Nephrolithiasis

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Sources:
43Novoseek, 24HMDB, 49PharmGKB, 12DrugBank, 28IUPHAR
See all sources

Compounds related to Nephrolithiasis according to GeneCards Suite gene sharing:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-thiouric acid439.9XDH, HPRT1
2ethyl methanesulfonate439.8HPRT1, APRT
3Phosphoribosyl pyrophosphate249.8HPRT1, APRT
4tiazofurin439.8HPRT1, XDH
52-amino-3-methylimidazo(4,5-f)quinoline439.8APRT, HPRT1
6mercaptopurine49 1210.8XDH, HPRT1
7bpde439.8APRT, HPRT1
8didanosine43 49 1211.8XDH, HPRT1
9thiopurine439.7XDH, HPRT1
106 mercaptopurine439.7HPRT1, XDH
11prpp439.7APRT, HPRT1
12phip439.6APRT, HPRT1
13inosine monophosphate439.6HPRT1, APRT
14acetaldehyde28 43 2411.5XDH, HPRT1
15benzo(a)pyrene439.4HPRT1, APRT
162,8-dihydroxyadenine439.4HPRT1, APRT, XDH
17allopurinol43 49 1211.4XDH, APRT, HPRT1
18purine nucleoside439.4HPRT1, APRT, XDH
19inosine43 2410.4XDH, APRT, HPRT1
20hypoxanthine43 24 1211.3HPRT1, APRT, XDH
21xanthine43 2410.3HPRT1, APRT, XDH
22uric acid43 2410.3XDH, APRT, HPRT1
23purine43 2410.3XDH, APRT, HPRT1
24adenine43 24 1211.3HPRT1, APRT, XDH
25guanine43 24 1211.2HPRT1, APRT, XDH
26chloride439.2SLC34A1, SLC9A3R1, CLCNKB, CLCN5
27creatinine439.2HPRT1, CLCN5, APRT
28h2o2438.9XDH, APRT, CLCN5, HPRT1
29sodium43 249.8SLC34A1, SLC9A3R1, CLCNKB
30calcium43 49 24 1211.1CLCN5, CLCNKB, SLC34A3, SLC9A3R1, SLC34A1

GO Terms for genes affiliated with Nephrolithiasis

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Cellular components related to Nephrolithiasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:00315269.8SLC34A1, SLC9A3R1
2apical plasma membraneGO:00163248.6SLC34A1, SLC9A3R1, SLC34A3

Biological processes related to Nephrolithiasis according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1adenine salvageGO:00061689.8APRT, HPRT1
2purine ribonucleoside salvageGO:00061669.7APRT, HPRT1
3negative regulation of protein kinase B signalingGO:00518989.6XDH, SLC9A3R1
4purine-containing compound salvageGO:00431019.6APRT, HPRT1
5grooming behaviorGO:00076259.6APRT, HPRT1
6cellular phosphate ion homeostasisGO:00306439.5SLC9A3R1, SLC34A3
7phosphate ion transportGO:00068179.5SLC34A3, SLC34A1
8lactationGO:00075959.3XDH, APRT
9sodium ion transportGO:00068149.3SLC34A3, SLC34A1
10purine nucleobase metabolic processGO:00061449.2HPRT1, APRT, XDH
11excretionGO:00075889.2CLCNKB, CLCN5
12nucleobase-containing small molecule metabolic processGO:00550869.2APRT, HPRT1, XDH
13transmembrane transportGO:00550858.5CLCN5, CLCNKB, SLC34A3, SLC34A1

Molecular functions related to Nephrolithiasis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1PDZ domain bindingGO:00301659.8SLC34A1, SLC9A3R1
2voltage-gated chloride channel activityGO:00052479.2CLCNKB, CLCN5
3sodium-dependent phosphate transmembrane transporter activityGO:00153219.2SLC34A1, SLC34A3

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet