MCID: NPH009
MIFTS: 57

Nephrolithiasis malady

Genetic diseases (common), Nephrological diseases categories

Summaries for Nephrolithiasis

About this section
Sources:
35MedlinePlus, 66Wikipedia, 48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MedlinePlus:35 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 dent's disease and nephrocalcinosis. 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:66 A kidney stone, also known as a renal calculus (from the Latin r?n?s, \"kidneys,\" and calculus,... more...

Description from OMIM:48 167030

Aliases & Classifications for Nephrolithiasis

About this section
Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 35MedlinePlus, 28ICD9CM, 59SNOMED-CT, 48OMIM, 36MeSH, 26ICD10
See all sources

Classifications:

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


Aliases & Descriptions:

nephrolithiasis 9 11 46 63
kidney stones 9 35
nephrolithiasis, calcium oxalate 9
calculus of kidney and ureter 9
urolithiasis, calcium oxalate 9
stone - kidney/ureter 9
kidney calculi 63


External Ids:

Disease Ontology9 DOID:585
ICD9CM28 592
OMIM48 167030
MeSH36 D053040
ICD1026 N20

Related Diseases for Nephrolithiasis

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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 140)
idRelated DiseaseScoreTop Affiliating Genes
1dent's disease30.6CLCNKB, CLCN5
2nephrocalcinosis30.6SLC34A1, SLC34A3, CLCNKB, CLCN5
3acute urate nephropathy30.3XDH, HPRT1
4hypophosphatemia30.2SLC34A1, SLC34A3, CLCN5
5rickets30.2SLC34A3, CLCN5
6gout30.2XDH, HPRT1, APRT
7hyperuricemia30.1HPRT1, APRT, XDH
8hypophosphatemic rickets with hypercalciuria30.1SLC34A3
9primary hyperoxaluria29.9CLCN5, APRT
10lesch-nyhan syndrome29.8APRT, HPRT1, XDH
11x-linked hypophosphatemia29.8SLC34A1, SLC34A3, CLCN5
12hypertension10.4
13kidney disease10.4
14obesity10.4
15ureterolithiasis10.3
16medullary sponge kidney10.3
17cystinuria10.3
18polycystic kidney disease10.3
19hypophosphatemic nephrolithiasis/osteoporosis, 110.3
20alkaptonuria10.3
21renal tubular acidosis10.2
22pyelonephritis10.2
23nephrolithiasis, type i10.2
24glycogen storage disease10.2
25hypocalcemia, autosomal dominant10.2
26hyperparathyroidism10.1
27osteoporosis10.1
28thalassemia10.1
29pseudoxanthoma elasticum10.0
30anuria10.0
31acute pyelonephritis10.0
32duchenne muscular dystrophy10.0
33hypercalcemia10.0
34hypokalemia10.0
35xanthogranulomatous pyelonephritis10.0
36primary hyperparathyroidism10.0
37hydronephrosis10.0
38inflammatory bowel disease10.0
39intestinal disease10.0
40muscular dystrophy10.0
41adenine phosphoribosyltransferase deficiency10.0
42dent disease 110.0
43renal hypouricemia10.0
44spinal cord injury10.0
45nephrolithiasis/osteoporosis, hypophosphatemic, 210.0
46hprt-related gout10.0HPRT1, APRT
47williams-beuren syndrome10.0
48acth-secreting pituitary adenoma10.0
49hereditary hemorrhagic telangiectasia10.0
50oculocerebrorenal syndrome10.0

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to nephrolithiasis

Symptoms for Nephrolithiasis

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

167030

Drugs & Therapeutics for Nephrolithiasis

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section

Anatomical Context for Nephrolithiasis

About this section
Sources:
32LifeMap Discoveryā„¢, 34MalaCards
See all sources

MalaCards organs/tissues related to Nephrolithiasis:

34
Kidney, Testes, Bone, Colon, Heart, Liver, Spinal cord, Uterus, Small intestine, 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

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Nephrolithiasis:

38
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

About this section
Sources:
53PubMed
See all sources

Articles related to Nephrolithiasis:

(show top 50)    (show all 565)
idTitleAuthorsYear
1
Nephrolithiasis in pediatric hematopoietic cell transplantation with up to 40 years of follow-up. (24038785)
2014
2
Digital Tomosynthesis: A New Technique forA Imaging Nephrolithiasis. Specific Organ Doses and Effective Doses Compared With Renal Stone Protocol Noncontrast Computed Tomography. (24246323)
2013
3
Occurrence of nephrolithiasis in a population of longsnout seahorse, Hippocampus reidi Ginsburg, and analysis of a nephrolith. (23110395)
2013
4
Nephrolithiasis in beta thalassemia major patients treated with deferasirox: an advent or an adverse event? A single Greek center experience. (22933235)
2013
5
Thalassemia bone disease: the association between nephrolithiasis, bone mineral density and fractures. (23291906)
2013
6
Association of pyuria and clinical characteristics with the presence of urinary tract infection among patients with acute nephrolithiasis. (23850311)
2013
7
Pathomechanisms of nephrolithiasis. (24376311)
2013
8
Drosophila melanogaster as an emerging translational model of human nephrolithiasis. (23500641)
2013
9
In vivo Drosophilia genetic model for calcium oxalate nephrolithiasis. (22993075)
2012
10
Re: McPhail et al.: Nephrolithiasis in medullary sponge kidney: evaluation of clinical and metabolic features. (Urology 2012;79:277-281). (23206796)
2012
11
Splenectomy is a risk factor for developing hyperuricemia and nephrolithiasis in patients with thalassemia intermedia: a retrospective study. (22705193)
2012
12
Beware the low urine pH--the major cause of the increased prevalence of nephrolithiasis in the patient with type 2 diabetes. (21992452)
2012
13
Cost-effectiveness of primary prevention strategies for nephrolithiasis. (21683379)
2011
14
Re: nephrolithiasis-associated bone disease: pathogenesis and treatment options. (22088709)
2011
15
Need for emergent studies on dietary factors among infancy nephrolithiasis. (22184837)
2011
16
Crystal/cell interaction and nephrolithiasis. (21585160)
2011
17
A hierarchical Bayesian approach for risk assessment of melamine in infant formula based on cases of related nephrolithiasis in children. (21337233)
2011
18
Nephrobronchial fistula complicating neglected nephrolithiasis and xanthogranulomatous pyelonephritis. (21566318)
2011
19
Stones: Safety guidewire unnecessary during flexible ureteroscopy for routine cases of nephrolithiasis. (21188773)
2010
20
A retrospective evaluation of Randall's plaque theory of nephrolithiasis with CT attenuation values. (18947952)
2009
21
Recent advances in the pathophysiology of nephrolithiasis. (19078968)
2009
22
Modern bariatric surgery and nephrolithiasis--are we on the verge of a new epidemic? (18076950)
2008
23
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
24
Nephrolithiasis in patients with duchenne muscular dystrophy. (17707891)
2007
25
Long-term lemonade based dietary manipulation in patients with hypocitraturic nephrolithiasis. (17382731)
2007
26
Adverse metabolic side effects of thiazides: implications for patients with calcium nephrolithiasis. (17382697)
2007
27
The use of alpha-blockers for the treatment of nephrolithiasis. (17216000)
2006
28
Nephrolithiasis as primary symptom in sarcoidosis. (16019774)
2005
29
Nephrolithiasis and hematuria--sometimes a stony road to diagnosis. (16114792)
2005
30
Fatty acids and idiopathic calcium nephrolithiasis. (16123560)
2005
31
Hypophosphatemia and calcium nephrolithiasis. (15499207)
2004
32
ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. (15492945)
2004
33
Sodium dicarboxylate cotransporter-1 expression in renal tissues and its role in rat experimental nephrolithiasis. (15151257)
2004
34
A review of the heritability of idiopathic nephrolithiasis. (15280397)
2004
35
Recurrent calcium nephrolithiasis associated with primary aldosteronism. (15211456)
2004
36
Occupational risk for nephrolithiasis and bladder dysfunction in a chauffeur. (14576963)
2004
37
Oxalate binding proteins in calcium oxalate nephrolithiasis. (12856168)
2003
38
Helical CT for nephrolithiasis and ureterolithiasis: comparison of conventional and reduced radiation-dose techniques. (14526095)
2003
39
Calcium nephrolithiasis and distal tubular acidosis in type 1 glycogen storage disease. (12534929)
2003
40
Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children. (12814692)
2003
41
Medical treatment of nephrolithiasis. (12474645)
2002
42
Primary hyperoxaluria: a rare but important cause of nephrolithiasis. (12055367)
2002
43
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
44
Type IV renal tubular acidosis and uric acid nephrolithiasis in William's syndrome--an unusual mode of renal involvement. (9249793)
1997
45
Role of calcium oxalate monohydrate crystal interactions with renal epithelial cells in the pathogenesis of nephrolithiasis: a review. (9813629)
1996
46
Mapping the gene causing X-linked recessive nephrolithiasis to Xp11.22 by linkage studies. (8099916)
1993
47
Obstructive nephrolithiasis and ureterolithiasis associated with chronic renal failure in horses: eight cases (1981-1987). (2200763)
1990
48
Case history of a prune-belly syndrome with extracorporeal shock wave lithotripsy treatment of allograft nephrolithiasis. (2658239)
1989
49
Cystinuria, hyperuricemia and uric acid nephrolithiasis. Case report. (5495289)
1970
50
INVESTIGATION OF NEPHROCALCINOSIS AND NEPHROLITHIASIS. (14318720)
1965

Variations for Nephrolithiasis

About this section

Expression for genes affiliated with Nephrolithiasis

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 54QIAGEN, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters
See all sources

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 biosynthesis39
guanosine ribonucleotides de novo biosynthesis39
adenosine ribonucleotides de novo biosynthesis39
purine nucleotides de novo biosynthesis39
9.5HPRT1, APRT
4
Show member pathways
UTP and CTP dephosphorylation II39
ATP ITP metabolism61
purine deoxyribonucleosides salvage39
9.0XDH, APRT, HPRT1
5
Show member pathways
purine deoxyribonucleosides degradation39
purine nucleotides degradation39
adenine and adenosine salvage II39
adenine and adenosine salvage III39
oxidized GTP and dGTP detoxification39
urate biosynthesis/inosine 5-phosphate degradation39
adenine and adenosine salvage I39
purine ribonucleosides degradation to ribose-1-phosphate39
inosine-5-phosphate biosynthesis39
guanosine nucleotides degradation39
guanine and guanosine salvage39
adenosine nucleotides degradation39
5-aminoimidazole ribonucleotide biosynthesis39
9.0HPRT1, APRT, XDH
6
Show member pathways
8.3SLC34A1, SLC34A3, CLCNKB, CLCN5

Compounds for genes affiliated with Nephrolithiasis

About this section
Sources:
46Novoseek, 25HMDB, 52PharmGKB, 12DrugBank, 30IUPHAR
See all sources

Compounds related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-thiouric acid469.9XDH, HPRT1
2ethyl methanesulfonate469.8HPRT1, APRT
3Phosphoribosyl pyrophosphate259.8HPRT1, APRT
4tiazofurin469.8HPRT1, XDH
52-amino-3-methylimidazo(4,5-f)quinoline469.8APRT, HPRT1
6mercaptopurine52 1210.8XDH, HPRT1
7bpde469.8APRT, HPRT1
8didanosine46 52 1211.8XDH, HPRT1
9thiopurine469.7XDH, HPRT1
106 mercaptopurine469.7HPRT1, XDH
11prpp469.7APRT, HPRT1
12phip469.6APRT, HPRT1
13inosine monophosphate469.6HPRT1, APRT
14acetaldehyde30 46 2511.5XDH, HPRT1
15benzo(a)pyrene469.4HPRT1, APRT
162,8-dihydroxyadenine469.4HPRT1, APRT, XDH
17allopurinol46 52 1211.4XDH, APRT, HPRT1
18purine nucleoside469.4HPRT1, APRT, XDH
19inosine46 2510.4XDH, APRT, HPRT1
20hypoxanthine46 25 1211.3HPRT1, APRT, XDH
21xanthine46 2510.3HPRT1, APRT, XDH
22uric acid46 2510.3XDH, APRT, HPRT1
23purine46 2510.3XDH, APRT, HPRT1
24adenine46 25 1211.3HPRT1, APRT, XDH
25guanine46 25 1211.2HPRT1, APRT, XDH
26chloride469.2SLC34A1, SLC9A3R1, CLCNKB, CLCN5
27creatinine469.2HPRT1, CLCN5, APRT
28h2o2468.9XDH, APRT, CLCN5, HPRT1
29sodium46 259.8SLC34A1, SLC9A3R1, CLCNKB
30calcium46 52 25 1211.1CLCN5, CLCNKB, SLC34A3, SLC9A3R1, SLC34A1

GO Terms for genes affiliated with Nephrolithiasis

About this section
Sources:
17Gene Ontology
See all sources

Cellular components related to Nephrolithiasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.8SLC34A1, SLC9A3R1
2apical plasma membraneGO:0163248.6SLC34A1, SLC9A3R1, SLC34A3

Biological processes related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1adenine salvageGO:0061689.8HPRT1, APRT
2purine ribonucleoside salvageGO:0061669.7HPRT1, APRT
3negative regulation of protein kinase B signalingGO:0518989.6XDH, SLC9A3R1
4purine-containing compound salvageGO:0431019.6HPRT1, APRT
5grooming behaviorGO:0076259.6HPRT1, APRT
6cellular phosphate ion homeostasisGO:0306439.5SLC9A3R1, SLC34A3
7phosphate ion transportGO:0068179.5SLC34A1, SLC34A3
8lactationGO:0075959.3APRT, XDH
9sodium ion transportGO:0068149.3SLC34A1, SLC34A3
10purine nucleobase metabolic processGO:0061449.2HPRT1, APRT, XDH
11excretionGO:0075889.2CLCNKB, CLCN5
12nucleobase-containing small molecule metabolic processGO:0550869.2XDH, APRT, HPRT1
13transmembrane transportGO:0550858.5CLCN5, CLCNKB, SLC34A3, SLC34A1

Molecular functions related to Nephrolithiasis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1PDZ domain bindingGO:0301659.8SLC34A1, SLC9A3R1
2voltage-gated chloride channel activityGO:0052479.2CLCNKB, CLCN5
3sodium-dependent phosphate transmembrane transporter activityGO:0153219.2SLC34A1, SLC34A3

Products for genes affiliated with Nephrolithiasis

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephrolithiasis

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet