MCID: NPH009
MIFTS: 59

Nephrolithiasis malady

Genetic diseases (common), Nephrological diseases categories

Summaries for Nephrolithiasis

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MedlinePlus:34 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 kidney stones, is related to nephrocalcinosis and dent disease, 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:65 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 32 10 12 45 62
Kidney Stones 10 34
Renal Stone 45 62
Nephrolithiasis, Calcium Oxalate 10
 
Calculus of Kidney and Ureter 10
Urolithiasis, Calcium Oxalate 10
Stone - Kidney/ureter 10
Kidney Calculi 62


Classifications:

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


External Ids:

Disease Ontology10 DOID:585
ICD9CM29 592
MeSH35 D053040
ICD1027 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/GeneDecks gene sharing:

(show top 50)    (show all 183)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis30.6CLCN5, CLCNKB, SLC34A3, SLC34A1
2dent disease30.6CLCNKB, CLCN5
3acute urate nephropathy30.3XDH, HPRT1
4gout30.2HPRT1, APRT, XDH
5hypophosphatemia30.2CLCN5, SLC34A3, SLC34A1
6hyperuricemia30.1XDH, APRT, HPRT1
7hypophosphatemic rickets with hypercalciuria30.1SLC34A3
8primary hyperoxaluria30.0CLCN5, APRT
9rickets30.0SLC34A3, CLCN5
10lesch-nyhan syndrome30.0XDH, APRT, HPRT1
11hprt-related gout29.8APRT, HPRT1
12kidney disease10.4
13cystinuria10.3
14obesity10.3
15nephrolithiasis, type i10.3
16medullary sponge kidney10.3
17ureterolithiasis10.3
18nephrolithiasis/osteoporosis, hypophosphatemic, 110.3
19polycystic kidney disease10.3
20pyelonephritis10.3
21nephrolithiasis/osteoporosis, hypophosphatemic, 210.2
22renal tubular acidosis10.2
23tuberculosis10.2
24urogenital tuberculosis10.2
25adenine phosphoribosyltransferase deficiency10.2
26glycogen storage disease10.2
27hyperparathyroidism10.2
28idiopathic hypercalciuria10.2
29osteoporosis10.1
30hypophosphatemic rickets10.1
31thalassemia10.1
32primary hyperparathyroidism10.1
33hyperparathyroidism, familial primary10.0
34multiple endocrine neoplasia 110.0
35atherosclerosis10.0
36cataract10.0
37hypoparathyroidism10.0
38cholesterol embolism10.0
39chronic pyelonephritis10.0
40kidney cancer10.0
41spondyloarthropathy10.0
42uterine fibroid10.0
43polycystic kidney disease, autosomal dominant10.0
44familial hypertension10.0
45autonomic dysfunction10.0
46nail-patella syndrome10.0
47alopecia universalis10.0
48alopecia10.0
49ectodermal dysplasia10.0
50keloids10.0

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:

33
Kidney, Testes, Bone, Spinal cord, Heart, Colon, Liver, Small intestine, Adrenal gland, Uterus, Neutrophil

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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MGI Mouse Phenotypes related to Nephrolithiasis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.6SLC34A1, SLC9A3R1, SLC34A3, CLCN5
2MP:00030128.5XDH, CLCN5, HPRT1, SLC34A1
3MP:00053677.1SLC34A1, XDH, APRT, CLCN5, HPRT1, SLC34A3
4MP:00053767.0XDH, APRT, CLCN5, HPRT1, SLC34A3, SLC9A3R1

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/GeneDecks:

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 biosynthesis38
guanosine ribonucleotides de novo biosynthesis38
adenosine ribonucleotides de novo biosynthesis38
purine nucleotides de novo biosynthesis38
9.5HPRT1, APRT
4
Show member pathways
UTP and CTP dephosphorylation II38
ATP ITP metabolism60
purine deoxyribonucleosides salvage38
9.0XDH, APRT, HPRT1
5
Show member pathways
purine deoxyribonucleosides degradation38
purine nucleotides degradation38
adenine and adenosine salvage II38
adenine and adenosine salvage III38
oxidized GTP and dGTP detoxification38
urate biosynthesis/inosine 5-phosphate degradation38
adenine and adenosine salvage I38
purine ribonucleosides degradation to ribose-1-phosphate38
inosine-5-phosphate biosynthesis38
guanosine nucleotides degradation38
guanine and guanosine salvage38
adenosine nucleotides degradation38
5-aminoimidazole ribonucleotide biosynthesis38
9.0HPRT1, APRT, XDH
6
Show member pathways
8.3SLC34A1, SLC34A3, CLCNKB, CLCN5

Compounds for genes affiliated with Nephrolithiasis

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Sources:
45Novoseek, 26HMDB, 51PharmGKB, 13DrugBank, 30IUPHAR
See all sources

Compounds related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-thiouric acid459.9XDH, HPRT1
2ethyl methanesulfonate459.8HPRT1, APRT
3Phosphoribosyl pyrophosphate269.8HPRT1, APRT
4tiazofurin459.8HPRT1, XDH
52-amino-3-methylimidazo(4,5-f)quinoline459.8APRT, HPRT1
6mercaptopurine51 1310.8XDH, HPRT1
7bpde459.8APRT, HPRT1
8didanosine45 51 1311.8XDH, HPRT1
9thiopurine459.7XDH, HPRT1
106 mercaptopurine459.7HPRT1, XDH
11prpp459.7APRT, HPRT1
12phip459.6APRT, HPRT1
13inosine monophosphate459.6HPRT1, APRT
14acetaldehyde30 45 2611.5XDH, HPRT1
15benzo(a)pyrene459.4HPRT1, APRT
162,8-dihydroxyadenine459.4HPRT1, APRT, XDH
17allopurinol45 51 1311.4XDH, APRT, HPRT1
18purine nucleoside459.4HPRT1, APRT, XDH
19inosine45 2610.4XDH, APRT, HPRT1
20hypoxanthine45 26 1311.3HPRT1, APRT, XDH
21xanthine45 2610.3HPRT1, APRT, XDH
22uric acid45 2610.3XDH, APRT, HPRT1
23purine45 2610.3XDH, APRT, HPRT1
24adenine45 26 1311.3HPRT1, APRT, XDH
25guanine45 26 1311.2HPRT1, APRT, XDH
26chloride459.2SLC34A1, SLC9A3R1, CLCNKB, CLCN5
27creatinine459.2HPRT1, CLCN5, APRT
28h2o2458.9XDH, APRT, CLCN5, HPRT1
29sodium45 269.8SLC34A1, SLC9A3R1, CLCNKB
30calcium45 51 26 1311.1CLCN5, CLCNKB, SLC34A3, SLC9A3R1, SLC34A1

GO Terms for genes affiliated with Nephrolithiasis

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Cellular components related to Nephrolithiasis according to GeneCards/GeneDecks:

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/GeneDecks:

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

Molecular functions related to Nephrolithiasis according to GeneCards/GeneDecks:

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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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet