MCID: NPH009
MIFTS: 57

Nephrolithiasis malady

Nephrological category

Summaries for Nephrolithiasis

Sources:
34MedlinePlus, 64Wikipedia, 47OMIM, 33MalaCards
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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: 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 liver, spinal cord and kidney, and related mouse phenotypes are skeleton and reproductive system.

Wikipedia:64 A kidney stone, also known as a renal calculus (from the Latin rēnēs, \"kidneys,\" and calculus,... more...

Description from OMIM:47 167030

Aliases & Classifications for Nephrolithiasis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 34MedlinePlus, 57SNOMED-CT, 27ICD9CM, 35MeSH, 47OMIM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Nephrological


Aliases & Descriptions:

nephrolithiasis 8 10 45 61
kidney stones 8 34
nephrolithiasis, calcium oxalate 8
urolithiasis, calcium oxalate 8
calculus of kidney and ureter 8
stone - kidney/ureter 8
kidney calculi 61


External Ids:

Disease Ontology8 DOID:585
ICD9CM27 592
MeSH35 D053040
OMIM47 167030
ICD1025 N20

Related Diseases for Nephrolithiasis

Sources:
17GeneCards, 18GeneDecks
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 161)
idRelated DiseaseScoreTop Affiliating Genes
1nephrocalcinosis30.7UMOD, NR1I3, AGXT, CLDN16, CLCN5, CLCNKB
2dent's disease30.4CLCNKB, CLCN5
3hypophosphatemia30.2FGF23, CLCN5, SLC34A1, SLC34A3, PTH
4acute urate nephropathy30.2ZNF365
5hyperuricemia30.1APRT, UMOD, XDH, HPRT1
6osteoporosis30.1CASR, NR1I3, FGF23, PTH, SPP1
7rickets30.1CASR, PTH
8gout30.1APRT, UMOD, XDH, HPRT1
9nephrolithiasis/osteoporosis, hypophosphatemic, 230.0BP50, SLC9A3R1
10primary hyperparathyroidism30.0CASR, NR1I3, FGF23, PTH
11hypercalcemia30.0PTH, FGF23, NR1I3, CASR
12hypoparathyroidism30.0CASR, NR1I3, FGF23, PTH
13atherosclerosis30.0CASR, XDH, FGF23, SPP1
14osteitis fibrosa30.0PTH, CASR
15x-linked hypophosphatemia29.8FGF23, CLCN5, SLC34A1, SLC34A3
16lesch-nyhan syndrome29.8HPRT1, XDH, APRT
17primary hyperoxaluria29.8AGXT, SPP1
18metabolic acidosis29.8PTH
19n syndrome10.5
20nephrolithiasis, type i10.4
21ureterolithiasis10.3
22alkaptonuria10.3
23cystinuria10.3
24medullary sponge kidney10.3
25polycystic kidney disease10.3
26autosomal dominant disease10.3
27polycystic kidney disease, autosomal dominant10.3
28hypophosphatemic nephrolithiasis/osteoporosis, 110.3
29renal tubular acidosis10.2
30hypocalcemia, autosomal dominant10.2
31coronary heart disease10.2
32thalassemia10.1
33anuria10.0
34cystic fibrosis10.0
35pseudoxanthoma elasticum10.0
36glycogen storage disease i10.0
37xanthogranulomatous pyelonephritis10.0
38hydronephrosis10.0
39acute pyelonephritis10.0
40duchenne muscular dystrophy10.0
41hypokalemia10.0
42adult syndrome10.0
43renal hypouricemia10.0
44dent disease 110.0
45spinal cord injury10.0
46hereditary hemorrhagic telangiectasia10.0
47acth-secreting pituitary adenoma10.0
48williams-beuren syndrome10.0
49congenital hypothyroidism10.0
50cushing's syndrome10.0

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to nephrolithiasis

Clinical Features for Nephrolithiasis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

167030

Drugs & Therapeutics for Nephrolithiasis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Nephrolithiasis

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Nephrolithiasis:

33
Liver, Spinal cord, Kidney, Uterus, Heart, Small intestine, Colon, Adrenal gland, T cells, B cells

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Nephrolithiasis

Sources:
51PubMed
See all sources

Articles related to Nephrolithiasis:

(show top 50)    (show all 574)
idTitleAuthorsYear
1
Recurrent nephrolithiasis associated with atazanavir use. (24403382)
2014
2
Occurrence of nephrolithiasis in a population of longsnout seahorse, Hippocampus reidi Ginsburg, and analysis of a nephrolith. (23110395)
2013
3
Pathomechanisms of nephrolithiasis. (24376311)
2013
4
Nephrolithiasis-related end stage renal disease. (23703097)
2013
5
Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. (23470222)
2013
6
Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis. (23578275)
2013
7
Crossed renal ectopia coexisting with nephrolithiasis in a young Nigerian man. (22612198)
2012
8
The assessment of 24 24-h urine volume by measurement of urine specific gravity with dipstick in adults with nephrolithiasis. (23946934)
2012
9
Effect of socioeconomic status on 24-hour urine composition in patients with nephrolithiasis. (22608802)
2012
10
Expression of renal crystallization inhibitors in experimental nephrolithiasis. (22816102)
2012
11
Association between serum 25-hydroxyvitamin D and nephrolithiasis: the National Health and Nutrition Examination Survey III, 1988-94. (22778177)
2012
12
The relationship of obesity and gender prevalence changes in United States inpatient nephrolithiasis. (21676441)
2011
13
Prospective randomized clinical trial comparing phytotherapy with potassium citrate in management of minimal burden (a8o8 mm) nephrolithiasis. (21747596)
2011
14
Investigation of nephrolithiasis in the West of ParanA!. (21789428)
2011
15
Genetics and calcium nephrolithiasis. (20962745)
2011
16
Predisposing factors for nephrolithiasis and nephrocalcinosis in cystic fibrosis. (23056766)
2011
17
Lithogenic activity and clinical relevance of lipids extracted from urines and stones of nephrolithiasis patients. (20509023)
2011
18
Identification of melamine/cyanuric acid-containing nephrolithiasis by infrared spectroscopy. (20333762)
2010
19
Nephrolithiasis as an extra-intestinal presentation of pediatric inflammatory bowel disease unclassified. (21122580)
2010
20
Clinical relevance of urate nephrolithiasis in bottlenose dolphins Tursiops truncatus. (20402234)
2010
21
A retrospective evaluation of Randall's plaque theory of nephrolithiasis with CT attenuation values. (18947952)
2009
22
Heparan sulfate gene polymorphism in calcium oxalate nephrolithiasis. (19066875)
2009
23
Evaluation of nephrolithiasis in autosomal dominant polycystic kidney disease patients. (19339428)
2009
24
A prospective study of risk factors for nephrolithiasis after Roux-en-Y gastric bypass surgery. (19762043)
2009
25
Diet, fluid, or supplements for secondary prevention of nephrolithiasis: a systematic review and meta-analysis of randomized trials. (19321253)
2009
26
Can biologic nanoparticles initiate nephrolithiasis? (18349851)
2008
27
Obstructive urolithiasis, unilateral hydronephrosis, and probable nephrolithiasis in a 12-year-old Clydesdale gelding. (18390103)
2008
28
Long-term lemonade based dietary manipulation in patients with hypocitraturic nephrolithiasis. (17382731)
2007
29
Indinavir trough concentration as a determinant of early nephrolithiasis in HIV-1-infected adults. (17417069)
2007
30
Current opinion in urology: new insights into nephrolithiasis. (17285019)
2007
31
Dietary therapy in idiopathic nephrolithiasis. (16910218)
2006
32
Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis. (15856322)
2005
33
Nephrolithiasis in children. (16133066)
2005
34
Preventive effects of green tea on renal stone formation and the role of oxidative stress in nephrolithiasis. (15592095)
2005
35
Nephrolithiasis and increased blood pressure among females with high body mass index. (16112044)
2005
36
ESRD caused by nephrolithiasis: prevalence, mechanisms, and prevention. (15492945)
2004
37
Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms. (15558518)
2004
38
Childhood idiopathic hypercalciuria--clinical significance of renal calyceal microlithiasis and risk of calcium nephrolithiasis. (15764255)
2004
39
Oxalate binding proteins in calcium oxalate nephrolithiasis. (12856168)
2003
40
Changes in urine volume accomplished by physicians treating nephrolithiasis. (12576800)
2003
41
Ceftriaxone-associated nephrolithiasis and biliary pseudolithiasis in a child. (12830336)
2003
42
Prophylaxis of calcium oxalate stones by Herniaria hirsuta on experimentally induced nephrolithiasis in rats. (12823398)
2003
43
X-linked recessive nephrolithiasis: presentation and diagnosis in children. (9602200)
1998
44
Clinical features of X-linked nephrolithiasis in childhood. (9811383)
1998
45
Characterisation of renal chloride channel, CLCN5, mutations in hypercalciuric nephrolithiasis (kidney stones) disorders. (9259268)
1997
46
Two cases of renal hypouricemia with nephrolithiasis. (9144014)
1997
47
Nephrolithiasis and nephrocalcinosis in cerebrotendinous xanthomatosis: report of three siblings. (7737249)
1995
48
Does medullary sponge kidney cause nephrolithiasis? (2115256)
1990
49
Hyperglycinuria with nephrolithiasis. (668712)
1978
50
Nephrolithiasis, Pyonephrosis and Impacted Urethral Calculus in a Boy Four Years of Age. (20314087)
1922

Genetic Variations for Nephrolithiasis

Expression for genes affiliated with Nephrolithiasis

Sources:
1BioGPS, 15Gene 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

Sources:
54Reactome, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Nephrolithiasis

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Nephrolithiasis according to GeneCards/GeneDecks:

(show all 47)
idCompoundScoreTop Affiliating Genes
12,8-dihydroxyadenine4510.8APRT, XDH, HPRT1
2Alpha-Phosphoribosylpyrophosphoric Acid1110.8APRT, HPRT1
36-thiouric acid4510.8XDH, HPRT1
4purine nucleoside4510.8HPRT1, XDH, APRT
5allopurinol45 50 1112.8APRT, UMOD, XDH, HPRT1
6calcium oxalate4510.8APRT, UMOD, AGXT, SPP1
7oxalate4510.8UMOD, RHD, AGXT, SPP1
8inosine45 2411.8HPRT1, XDH, APRT
9sevelamer4510.8FGF23, CASR
10uric acid45 2411.8APRT, UMOD, XDH, HPRT1, SPP1
11chloride4510.8CASR, CLCN5, CLCNKB, SLC9A3R1, SLC34A1
12hypoxanthine45 11 2412.8APRT, XDH, HPRT1
13ethyl methanesulfonate4510.8HPRT1, APRT
14neomycin4510.7CASR, NR1I3, HPRT1, SPP1
15hydroxyapatite4510.7SPP1, FGF23, UMOD, CASR
1625-hydroxyvitamin d4510.7CASR, FGF23, PTH, SPP1
17benzo(a)pyrene4510.7HPRT1, NR1I3, APRT
18phosphorus4510.7SPP1, PTH, SLC34A1, FGF23, NR1I3, CASR
191,25 dihydroxy vitamin d34510.7CASR, NR1I3, FGF23, SLC34A1, PTH, SPP1
20spermine45 29 11 2413.7CASR, NR1I3, XDH
21xanthine45 2411.7HPRT1, XDH, APRT
22h2o24510.7APRT, RHD, XDH, HPRT1, CLCN5, SPP1
23calcitriol45 60 11 2413.7CASR, NR1I3, FGF23, SLC34A1, PTH, SPP1
24vitamin d4510.7CASR, NR1I3, FGF23, SLC34A1, PTH, SPP1
25sodium45 2411.7CASR, UMOD, NR1I3, CLCNKB, SLC9A3R1, SLC34A1
26magnesium45 11 2412.6CASR, UMOD, NR1I3, HPRT1, CLDN16, CLCNKB
27creatinine4510.6CASR, APRT, UMOD, HPRT1, FGF23, CLCN5
28cinacalcet45 29 1112.6CASR, NR1I3
29serine4510.6CASR, RHD, NR1I3, HPRT1, FGF23, SLC3A1
30arginine4510.6CASR, NR1I3, XDH, HPRT1, FGF23, SLC3A1
31cysteine4510.6CASR, UMOD, AGXT, XDH, HPRT1, SLC3A1
32gadolinium4510.6CASR, NR1I3
33foscarnet45 1111.6SLC34A1, SPP1
34phenylalanine4510.6CASR, NR1I3, FGF23, SLC3A1
35o6-benzylguanine4510.6AGXT, HPRT1
36glutamate4510.6CASR, NR1I3, AGXT, HPRT1, SLC3A1, SPP1
37adenylate4510.6PTH, HPRT1, RHD, APRT, CASR
38tiazofurin4510.6XDH, HPRT1
39ribonucleic acid4510.6CASR, NR1I3, PTH, SPP1
40alanine4510.6CASR, NR1I3, AGXT, SLC9A3R1, SLC3A1, SPP1
41mercaptopurine50 1111.5XDH, HPRT1
42calcium45 50 11 2413.5FGF23, AGXT, NR1I3, RHD, UMOD, CASR
432-amino-3-methylimidazo(4,5-f)quinoline4510.5HPRT1, APRT
44bpde4510.4HPRT1, APRT
45purine45 2411.4APRT, XDH, HPRT1
46pamidronate45 50 1112.3PTH, CASR
47potassium45 11 2412.0PTH, CLCNKB, UMOD, CASR

GO Terms for genes affiliated with Nephrolithiasis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Nephrolithiasis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet