MCID: NPH009
MIFTS: 58

Nephrolithiasis malady

Genetic diseases (common), Nephrological diseases categories
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Summaries for Nephrolithiasis

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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 based summary: Nephrolithiasis, also known as kidney stones, is related to dent's disease and acute urate nephropathy, and has symptoms including 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 (from the Latin r?n?s, \"kidneys,\" and calculus,... more...

Description from OMIM:46 167030

Aliases & Classifications for Nephrolithiasis

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Nephrolithiasis, Aliases & Descriptions:

Name: Nephrolithiasis 30 8 10 44 62
Kidney Stones 8 33
Renal Stone 44 62
Nephrolithiasis, Calcium Oxalate 8
 
Calculus of Kidney and Ureter 8
Urolithiasis, Calcium Oxalate 8
Stone - Kidney/ureter 8
Kidney Calculi 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:585
ICD9CM27 592
MeSH34 D053040
OMIM46 167030
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/GeneDecks gene sharing:

(show top 50)    (show all 163)
idRelated DiseaseScoreTop Affiliating Genes
1dent's disease30.7CLCNKB, CLCN5
2acute urate nephropathy30.6XDH, HPRT1
3hypophosphatemic rickets with hypercalciuria30.3SLC34A3
4rickets30.3SLC34A3, CLCN5
5nephrocalcinosis30.3SLC34A1, SLC34A3, CLCNKB, CLCN5
6hprt-related gout30.2HPRT1, APRT
7hypophosphatemia30.2SLC34A1, SLC34A3, CLCN5
8gout30.1XDH, HPRT1, APRT
9hyperuricemia30.1HPRT1, APRT, XDH
10primary hyperoxaluria30.0CLCN5, APRT
11lesch-nyhan syndrome29.8APRT, HPRT1, XDH
12x-linked hypophosphatemia29.7SLC34A1, SLC34A3, CLCN5
13hypertension10.4
14obesity10.4
15kidney disease10.4
16ureterolithiasis10.3
17medullary sponge kidney10.3
18alkaptonuria10.3
19cystinuria10.3
20polycystic kidney disease10.3
21pyelonephritis10.3
22hypophosphatemic nephrolithiasis/osteoporosis, 110.2
23nephrolithiasis, type i10.2
24glycogen storage disease10.2
25renal tubular acidosis10.2
26hyperparathyroidism-jaw tumor syndrome10.2
27hypocalcemia, autosomal dominant10.2
28tuberculosis10.2
29urogenital tuberculosis10.2
30osteoporosis10.1
31thalassemia10.1
32hyperparathyroidism10.1
33dent disease 110.1
34purine nucleoside phosphorylase deficiency10.1HPRT1, APRT
35bartter disease10.1CLCNKB, CLCN5
36cystic fibrosis10.0
37duchenne muscular dystrophy10.0
38spinal cord injury10.0
39pseudoxanthoma elasticum10.0
40anuria10.0
41acute pyelonephritis10.0
42hypercalcemia10.0
43hypokalemia10.0
44xanthogranulomatous pyelonephritis10.0
45primary hyperparathyroidism10.0
46hydronephrosis10.0
47intestinal disease10.0
48muscular dystrophy10.0
49adenine phosphoribosyltransferase deficiency10.0
50renal hypouricemia10.0

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to nephrolithiasis

Symptoms for Nephrolithiasis

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Clinical features from OMIM:

167030

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:

32
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:

36
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 586)
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

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Expression for genes affiliated with Nephrolithiasis

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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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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
9.5XDH, HPRT1
3
Show member pathways
guanosine nucleotides de novo biosynthesis37
guanosine ribonucleotides de novo biosynthesis37
adenosine ribonucleotides de novo biosynthesis37
purine nucleotides de novo biosynthesis37
9.5APRT, HPRT1
4
Show member pathways
UTP and CTP dephosphorylation II37
ATP ITP metabolism60
purine deoxyribonucleosides salvage37
9.0APRT, HPRT1, XDH
5
Show member pathways
purine deoxyribonucleosides degradation37
purine nucleotides degradation37
adenine and adenosine salvage II37
adenine and adenosine salvage III37
oxidized GTP and dGTP detoxification37
urate biosynthesis/inosine 5-phosphate degradation37
adenine and adenosine salvage I37
purine ribonucleosides degradation to ribose-1-phosphate37
inosine-5-phosphate biosynthesis37
guanosine nucleotides degradation37
guanine and guanosine salvage37
adenosine nucleotides degradation37
5-aminoimidazole ribonucleotide biosynthesis37
9.0HPRT1, XDH, APRT
6
Show member pathways
8.3SLC34A1, SLC34A3, CLCNKB, CLCN5

Compounds for genes affiliated with Nephrolithiasis

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 11DrugBank, 28IUPHAR
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Compounds related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 30)
idCompoundScoreTop Affiliating Genes
16-thiouric acid449.9XDH, HPRT1
2ethyl methanesulfonate449.8HPRT1, APRT
3Phosphoribosyl pyrophosphate249.8HPRT1, APRT
4tiazofurin449.8HPRT1, XDH
52-amino-3-methylimidazo(4,5-f)quinoline449.8APRT, HPRT1
6mercaptopurine50 1110.8XDH, HPRT1
7bpde449.8APRT, HPRT1
8didanosine44 50 1111.8XDH, HPRT1
9thiopurine449.7XDH, HPRT1
106 mercaptopurine449.7HPRT1, XDH
11prpp449.7APRT, HPRT1
12phip449.6APRT, HPRT1
13inosine monophosphate449.6HPRT1, APRT
14acetaldehyde28 44 2411.5XDH, HPRT1
15benzo(a)pyrene449.4HPRT1, APRT
162,8-dihydroxyadenine449.4HPRT1, APRT, XDH
17allopurinol44 50 1111.4XDH, APRT, HPRT1
18purine nucleoside449.4HPRT1, APRT, XDH
19inosine44 2410.4XDH, APRT, HPRT1
20hypoxanthine44 24 1111.3HPRT1, APRT, XDH
21xanthine44 2410.3HPRT1, APRT, XDH
22uric acid44 2410.3XDH, APRT, HPRT1
23purine44 2410.3XDH, APRT, HPRT1
24adenine44 24 1111.3HPRT1, APRT, XDH
25guanine44 24 1111.2HPRT1, APRT, XDH
26chloride449.2SLC34A1, SLC9A3R1, CLCNKB, CLCN5
27creatinine449.2HPRT1, CLCN5, APRT
28h2o2448.9XDH, APRT, CLCN5, HPRT1
29sodium44 249.8SLC34A1, SLC9A3R1, CLCNKB
30calcium44 50 24 1111.1CLCN5, 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: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

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet