CAON
MCID: NPH009
MIFTS: 60

Nephrolithiasis (CAON) malady

Categories: Nephrological diseases, Genetic diseases

Aliases & Classifications for Nephrolithiasis

Aliases & Descriptions for Nephrolithiasis:

Name: Nephrolithiasis 38 12 29 52 14 69
Nephrolithiasis, Calcium Oxalate 12 24 54 66 29 69
Kidney Stones 12 66 41 14
Urolithiasis, Calcium Oxalate 12 66
Calcium Oxalate Urolithiasis 66 29
Caon 24 66
Calculus of Kidney and Ureter 12
Stone - Kidney/ureter 12
Kidney Calculi 69
Renal Stone 52

Classifications:



External Ids:

Disease Ontology 12 DOID:585
ICD10 33 N20 N20.2
ICD9CM 35 592
MedGen 40 C1833683
MeSH 42 D053040
OMIM 54 167030
UMLS 69 C0156257

Summaries for Nephrolithiasis

OMIM : 54 Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health... (167030) more...

MalaCards based summary : Nephrolithiasis, also known as nephrolithiasis, calcium oxalate, is related to dent disease 2 and nephrolithiasis, type i, and has symptoms including calcium oxalate nephrolithiasis, hyperoxaluria and renal pain. An important gene associated with Nephrolithiasis is SLC26A1 (Solute Carrier Family 26 Member 1), and among its related pathways/superpathways are Glyoxylate and dicarboxylate metabolism and Thiopurine Pathway, Pharmacokinetics/Pharmacodynamics. The drugs Morphine and Tamsulosin have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and testes, and related phenotypes are homeostasis/metabolism and growth/size/body region

MedlinePlus : 41 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

UniProtKB/Swiss-Prot : 66 Nephrolithiasis, calcium oxalate: A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON is characterized by calcium oxalate kidney stones.

Wikipedia : 71 Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... more...

Related Diseases for Nephrolithiasis

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 149)
id Related Disease Score Top Affiliating Genes
1 dent disease 2 31.0 APRT HPRT1
2 nephrolithiasis, type i 12.2
3 nephrolithiasis, uric acid 12.2
4 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.1
5 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.1
6 dent disease 11.9
7 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.7
8 hyperoxaluria, primary, type iii 11.1
9 adenine phosphoribosyltransferase deficiency 11.1
10 hyperglycinuria 11.1
11 hypophosphatemic rickets 11.0
12 hypouricemia, renal, 2 10.8
13 renal tubular acidosis, distal, ar 10.8
14 hypotonia-cystinuria syndrome 10.8
15 hypouricemia, renal 10.8
16 renal tubular acidosis, distal, ad 10.7
17 slc4a1-associated distal renal tubular acidosis 10.7
18 hypercalciuria, absorptive 10.7
19 renal tubular acidosis, distal, autosomal recessive 10.7
20 hyperoxaluria, primary, type ii 10.7
21 renal tubular acidosis with deafness 10.7
22 hyperoxaluria, primary, type 1 10.7
23 polycystic kidney disease, adult type i 10.7
24 low grade ependymoma 10.3 SLC34A1 SLC9A3R1
25 keratoderma with woolly hair 10.2 SLC34A1 SLC34A3
26 waardenburg syndrome, type 4b 10.2 CASR SLC34A1 VDR
27 nephrocalcinosis 10.2
28 weill-marchesani syndrome 10.2 CASR SLC34A1 VDR
29 amyloidosis bronchopulmonary 10.2 CLCN5 SLC34A1 SLC3A1
30 coffin-lowry syndrome 10.1 SLC34A1 SLC34A3 VDR
31 opportunistic bacterial infectious disease 10.1 CLCN5 SLC34A1 SLC34A3
32 bile duct mucoepidermoid carcinoma 10.1 CASR SPP1 VDR
33 prostate cancer, hereditary, x-linked 2 10.0 CLCN5 SLC34A1 SLC34A3 VDR
34 allergic urticaria 10.0 CLCN5 SLC34A1 SLC34A3 VDR
35 lattice corneal dystrophy type ii 10.0 APRT XDH
36 gastric antral vascular ectasia 10.0 CASR SLC34A1 SLC34A3 VDR
37 high-grade dysplasia in patients with barrett esophagus 10.0 CASR CLCN5 SLC34A3 VDR
38 kidney disease 10.0
39 lymphangioleiomyomatosis 10.0 SLC34A1 SLC34A3
40 ureterolithiasis 10.0
41 obesity 10.0
42 medullary sponge kidney 9.9
43 carnitine deficiency, systemic primary 9.9 CASR SLC34A1 SLC9A3R1 SPP1 VDR
44 cystinuria 9.9
45 hyperparathyroidism 9.9
46 mixed receptive-expressive language disorder 9.9 AGXT CLCN5 CLDN16 GRHPR SLC34A1
47 persistent hyperplastic primary vitreous, autosomal recessive 9.9 HPRT1 XDH ZNF365
48 chronic myocardial ischemia 9.9 AGXT UMOD VDR
49 renal tubular acidosis 9.9
50 pyelonephritis 9.9

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to Nephrolithiasis

Symptoms & Phenotypes for Nephrolithiasis

Symptoms by clinical synopsis from OMIM:

167030

Clinical features from OMIM:

167030

Human phenotypes related to Nephrolithiasis:

32
id Description HPO Frequency HPO Source Accession
1 calcium oxalate nephrolithiasis 32 HP:0008672
2 hyperoxaluria 32 HP:0003159

UMLS symptoms related to Nephrolithiasis:


renal pain

MGI Mouse Phenotypes related to Nephrolithiasis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.16 CLCN5 CLDN16 GRHPR HPRT1 SLC26A1 SLC34A1
2 growth/size/body region MP:0005378 10.06 SLC34A3 SLC3A1 SPP1 UMOD VDR XDH
3 renal/urinary system MP:0005367 9.86 AGXT APRT CASR CLCN5 CLDN16 GRHPR
4 digestive/alimentary MP:0005381 9.85 CASR HPRT1 SLC26A1 SLC34A3 SLC9A3R1 VDR
5 immune system MP:0005387 9.85 APRT CASR GRHPR HPRT1 SLC26A1 SLC3A1
6 skeleton MP:0005390 9.32 CASR CLCN5 SLC34A1 SLC34A3 SLC3A1 SLC9A3R1

Drugs & Therapeutics for Nephrolithiasis

Drugs for Nephrolithiasis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 341)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
2
Tamsulosin Approved, Investigational Phase 4,Phase 3 106133-20-4 129211
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
5
Menthol Approved Phase 4 2216-51-5 16666
6
Alfuzosin Approved, Investigational Phase 4,Phase 3,Phase 2 81403-80-7 2092
7
Rosiglitazone Approved, Investigational Phase 4 122320-73-4 77999
8
Verapamil Approved Phase 4 52-53-9 2520
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
11
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
12
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
13
Ibuprofen Approved Phase 4 15687-27-1 3672
14
Losartan Approved Phase 4 114798-26-4 3961
15
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
16
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
17
Allopurinol Approved Phase 4,Phase 2 315-30-0 2094
18
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
19
Silodosin Approved Phase 4,Phase 3,Phase 2 160970-54-7
20
Selenium Approved, Vet_approved Phase 4 7782-49-2
21
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
22
Ondansetron Approved Phase 4 99614-02-5 4595
23
Remifentanil Approved Phase 4 132875-61-7 60815
24
Bupivacaine Approved, Investigational Phase 4,Phase 3 2180-92-9, 38396-39-3 2474
25
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
26
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
27
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
28
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
29
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
30
Levobupivacaine Approved Phase 4 27262-47-1 92253
31
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
32
Potassium Citrate Approved, Vet_approved Phase 4,Phase 3,Phase 2
33
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
34
Nitrofurantoin Approved, Vet_approved Phase 4,Early Phase 1 67-20-9 5353830
35
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
36
Cephalexin Approved, Vet_approved Phase 4 15686-71-2 27447
37
Tranexamic Acid Approved Phase 4 1197-18-8 5526
38
Ofloxacin Approved Phase 4,Early Phase 1 82419-36-1 4583
39
Vancomycin Approved Phase 4 1404-90-6 441141 14969
40
Sulfamethoxazole Approved Phase 4 723-46-6 5329
41
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
42
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
43
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
44
Mirabegron Approved Phase 4 223673-61-8
45
Levofloxacin Approved, Investigational Phase 4,Early Phase 1 100986-85-4 149096
46
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
47
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 67-97-0 6221 10883523 5280795
48
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 50-14-6 5280793
49
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
50
leucovorin Approved, Nutraceutical Phase 4,Phase 3,Phase 1 58-05-9 54575, 6560146 143

Interventional clinical trials:

(show top 50) (show all 330)
id Name Status NCT ID Phase
1 Comparison of Safety and Efficiency of 20w 30w Holmium Laser Device in Treatment of 1-2 cm Diameter Kidney Stones With RIRS Unknown status NCT02451319 Phase 4
2 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
3 Quality of Life in Patients With Double Loop Ureteral Stent (JJ Silicone Hydrogel Study) Unknown status NCT02489656 Phase 4
4 Comparison of Safety and Efficiency of 20w and 30w Holmium Laser Device in Management of 2-3 cm Diameter Kidney Stones With Retrograde Intrarenal Surgery Unknown status NCT02443909 Phase 4
5 Comparison of RIRS Versus PCNL Methods, According to Postoperative Pain and Analgesic Demand in 2 to 4 cm Renal Stones Unknown status NCT02430168 Phase 4
6 Naftopidil 75mg for Improving Clearance of Urinary Stones Unknown status NCT02011737 Phase 4
7 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
8 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4
9 The Use of Intranasal Ketoralac for Pain Management Unknown status NCT01736358 Phase 4
10 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4
11 Efficacy of Nefopam and Morphine in Balanced Analgesia for Acute Ureteric Colic Unknown status NCT01543165 Phase 4
12 Efficacy of Potassium Sodium Hydrogen Citrate Therapy on Renal Stone Recurrence and/or Residual Fragments After Shockwave Lithotripsy and Percutaneous Nephrolithotomy in Calcium Oxalate Urolithiasis Completed NCT01329042 Phase 4
13 Intravenous Ketorolac for Postoperative Pain in Percutaneous Nephrolithotomy Completed NCT00765128 Phase 4
14 Are There Protective Effects of Antioxidants, Calcium Channel Blocker and Angiotensin Receptor Blocker Against Extracorporeal Shockwaves Lithotripsy Induced Renal Injury? Completed NCT01675362 Phase 4
15 Remifentanil in Extracorporeal Shock Wave Lithotripsy Completed NCT01452880 Phase 4
16 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4
17 Efficacy Study of Different Analgesic Options in Kidney Stone Pain Management Completed NCT02187614 Phase 4
18 Comparison Between Tramadol Hcl and Other Analgesics in the Treatment of Renal Colic Completed NCT00310908 Phase 4
19 Study of Tomography of Nephrolithiasis Evaluation Completed NCT01451931 Phase 4
20 Tamsulosin for Urolithiasis in the Emergency Dept Completed NCT00382265 Phase 4
21 Ultrasound Guided Thoracic Paravertebral Block for Percutaneous Nephrolithotomy Operations in Children Completed NCT02291692 Phase 4
22 Segmental Epidural Anesthesia (SEA) V/S General Anesthesia for PCNL Completed NCT02878512 Phase 4
23 The Comparison of Low Thoracic Paravertebral Block Versus Peritubal Infiltration Completed NCT02764008 Phase 4
24 Therapeutic Merit of Solifenacin in the Mitigation of Ureteral Stent-induced Pain and Lower Urinary Tract Symptoms Completed NCT01381120 Phase 4
25 Rosiglitazone and Insulin in T1DM Adolescents Completed NCT00372086 Phase 4
26 Prospective Randomized Evaluation Of Celecoxib Integrated Safety Vs Ibuprofen Or Naproxen Completed NCT00346216 Phase 4
27 Pain Reduction After Cholecystectomy Completed NCT01199406 Phase 4
28 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Recruiting NCT02373384 Phase 4
29 Struvite Stones Antibiotic Study Recruiting NCT02375295 Phase 4
30 A Randomized Trial of Preoperative Prophylactic Antibiotics Prior to Kidney Stone Surgery (Percutaneous Nephrolithotomy [PCNL]) Recruiting NCT02384200 Phase 4
31 Impact of Tranexamic Acid Use in Percutaneous Nephrolithotomy Recruiting NCT02966236 Phase 4
32 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Recruiting NCT02095665 Phase 4
33 Alkalinization by Urologists & Nephrologists Recruiting NCT03035812 Phase 4
34 Antibiotics to Decrease Post ERCP Cholangitis Recruiting NCT03087656 Phase 4
35 VITamine D Supplementation in RenAL Transplant Recipients - VITALE Active, not recruiting NCT01431430 Phase 4
36 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Percutaneous Nephrolithotomy Not yet recruiting NCT02818140 Phase 4
37 Pancreatitis CytoSorbents (CytoSorb®) Inflammatory Cytokine Removal Not yet recruiting NCT03082469 Phase 4
38 Silodosin Versus Tamsulosin for Treatment of Ureteral Stones Terminated NCT02369744 Phase 4
39 Use of a Ureteral Access Sheath During Ureteroscopy and Its Effect on Stone Free Rate Terminated NCT00199524 Phase 4
40 Trial of High Dose Vitamin D in Patient's With Crohn's Disease Terminated NCT02208310 Phase 4
41 Celecoxib (Celebrex) in the Management of Acute Renal Colic Withdrawn NCT00304317 Phase 4
42 Effects of the Use of Adjuvant Drugs After Extracorporeal Shockwave Lithotripsy (ESWL) in Renal Calculus Unknown status NCT01215708 Phase 3
43 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney Unknown status NCT00959153 Phase 3
44 Alfuzosin for Medical Expulsion Therapy of Ureteral Stones Unknown status NCT00713739 Phase 3
45 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3
46 Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
47 Visceral Pain From the Upper Urinary Tract - a Trial on the Effect of Morphine and Oxycodone in Patients Undergoing PCNL Completed NCT00784472 Phase 3
48 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3
49 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3
50 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3

Search NIH Clinical Center for Nephrolithiasis

Genetic Tests for Nephrolithiasis

Genetic tests related to Nephrolithiasis:

id Genetic test Affiliating Genes
1 Nephrolithiasis 29
2 Calcium Oxalate Urolithiasis 29
3 Calcium Oxalate Nephrolithiasis 29
4 Nephrolithiasis, Calcium Oxalate 24 SLC26A1

Anatomical Context for Nephrolithiasis

MalaCards organs/tissues related to Nephrolithiasis:

39
Kidney, Testes, Bone, Liver, Heart, Colon, Spinal Cord
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Nephrolithiasis:
id Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Nephrolithiasis

Articles related to Nephrolithiasis:

(show top 50) (show all 726)
id Title Authors Year
1
Dietary cation-anion difference may explain why ammonium urate nephrolithiasis occurs more frequently in common bottlenose dolphins () under human care than in free-ranging common bottlenose dolphins. ( 28380506 )
2017
2
Marked increase in urinary excretion of apolipoproteins in children with nephrolithiasis associated with hypercalciuria. ( 28188435 )
2017
3
Pseudomonas aeruginosa as an Etiologic Agent of Nephrolithiasis in Deep Water Divers. ( 28164160 )
2017
4
The molecular mechanisms of androgen receptor in nephrolithiasis. ( 28336462 )
2017
5
Relationship between Urinary Calcium and Bone Mineral Density in Patients with Calcium Nephrolithiasis. ( 28063842 )
2017
6
Transient hyperphosphatemia in a child with nephrolithiasis and severe prematurity. ( 28325562 )
2017
7
Development of Nephrolithiasis in Asymptomatic Hyperuricemia: A Cohort Study. ( 28410765 )
2017
8
Glutathione Peroxidase 1 Gene Polymorphism in Nephrolithiasis Patients From South of Iran. ( 28174350 )
2017
9
Corrigendum to "The role of sodium intake in nephrolithiasis: Epidemiology, pathogenesis, and future directions" [Eur J Intern Med 35 (2016) 16-19]. ( 27899242 )
2017
10
Etiopathogenesis of Nephrolithiasis in Ulcerative Colitis Patients with the Ileal Pouch Anal Anastomosis. ( 28301430 )
2017
11
Nephrolithiasis in elderly population; effect of demographic characteristics. ( 28491855 )
2017
12
Multiple sclerosis and nephrolithiasis: a matched-case comparative study. ( 28220601 )
2017
13
Metabolic syndrome contributes to renal injury mediated by hyperoxaluria in a murine model of nephrolithiasis. ( 28405703 )
2017
14
Re: Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis. ( 28505913 )
2017
15
A 10-Year Retrospective Review of Nephrolithiasis in the Navy and Navy Pilots. ( 28235550 )
2017
16
Antiurolithiatic and antioxidant efficacy of Musa paradisiaca pseudostem on ethylene glycol-induced nephrolithiasis in rat. ( 28458427 )
2017
17
Co-Occurrence of Asthma and Nephrolithiasis in Children. ( 28081237 )
2017
18
Association of MMP-9 gene polymorphisms with nephrolithiasis patients. ( 28205286 )
2017
19
The risk of nephrolithiasis is causally related to inactive matrix Gla protein, a marker of vitamin K status: a Mendelian randomization study in a Flemish population. ( 28340119 )
2017
20
A role for thiazide diuretic therapy in preventing bone loss, fracture, and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194474 )
2017
21
Inhibitory effect of an aqueous extract of Radix Paeoniae Alba on calcium oxalate nephrolithiasis in a rat model. ( 28085537 )
2017
22
Response to: A role for thiazide diuretic therapy in preventing bone loss, fracture and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194475 )
2017
23
Association between nephrolithiasis and fatty liver detected on non-enhanced CT for clinically suspected renal colic. ( 28324714 )
2017
24
Erratum to: A novel CYP24A1 genotype associated to a clinical picture of hypercalcemia, nephrolithiasis and low bone mass. ( 27885408 )
2016
25
An Increase Incidence in Uric Acid Nephrolithiasis: Changing Patterns. ( 27630833 )
2016
26
Narcotic Use and Postoperative Doctor Shopping Among Patients with Nephrolithiasis Requiring Operative Intervention: Implications for Patient Safety. ( 27131463 )
2016
27
Research Progress of Mechanisms of Ceftriaxone Associated Nephrolithiasis. ( 27488586 )
2016
28
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or Nephrocalcinosis. ( 26787776 )
2016
29
Antioxidant and Renoprotective Effects of Mushroom Extract: Implication in Prevention of Nephrolithiasis. ( 27829958 )
2016
30
A case of multiple myeloma presenting as a distal renal tubular acidosis with extensive bilateral nephrolithiasis. ( 26998308 )
2016
31
Ultrasonography versus computed tomography for initial investigation of suspected nephrolithiasis. ( 26794725 )
2016
32
Role of mitochondria and NADPH oxidase derived reactive oxygen species in hyperoxaluria induced nephrolithiasis: therapeutic intervention with combinatorial therapy of N-acetyl cysteine and Apocynin. ( 26779823 )
2016
33
Association Between MIF-AS rs755622 and Nephrolithiasis Risk in a Chinese Population. ( 26895959 )
2016
34
Annual Incidence of Nephrolithiasis among Children and Adults in South Carolina from 1997 to 2012. ( 26769765 )
2016
35
Identification and Cost of Disposable Endourological Devices for Nephrolithiasis: A Cross-Sectional Study Among Urological Trainees. ( 27891391 )
2016
36
Sialolithiasis is associated with nephrolithiasis: a case-control study. ( 26808906 )
2016
37
Difference in 24-Hour Urine Composition between Diabetic and Non-Diabetic Adults without Nephrolithiasis. ( 26906900 )
2016
38
Nephrolithiasis, stone composition, meteorology, and seasons in Malta: Is there any connection? ( 27453655 )
2016
39
Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients. ( 27036738 )
2016
40
Nephrolithiasis in Israel: Epidemiological Characteristics of Return Patients in a Tertiary Care Center. ( 28457074 )
2016
41
Nephrolithiasis among male patients with newly diagnosed gout. ( 27609977 )
2016
42
Association between OPN genetic variations and nephrolithiasis risk. ( 27602211 )
2016
43
Granulomatous Interstitial Nephritis Presenting as Hypercalcemia and Nephrolithiasis. ( 26904327 )
2016
44
Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis. ( 27054596 )
2016
45
Associations of the calcium-sensing receptor gene CASR rs7652589 SNP with nephrolithiasis and secondary hyperparathyroidism in haemodialysis patients. ( 27739473 )
2016
46
Clinical effectiveness in the diagnosis and acute management of pediatric nephrolithiasis. ( 27856357 )
2016
47
Digital Tomosynthesis: A Viable Alternative to Noncontrast Computed Tomography for the Follow-Up of Nephrolithiasis? ( 27078715 )
2016
48
Super-Mini Percutaneous Nephrolithotomy in the Treatment of Pediatric Nephrolithiasis: Evaluation of the Initial Results. ( 27819138 )
2016
49
Urinary MCP-1a88HMGB1 increased in calcium nephrolithiasis patients and the influence of hypercalciuria on the production of the two cytokines. ( 27393275 )
2016
50
Percutaneous Approach to a Complicated Case of Nephrolithiasis in a Pregnant Woman: A Case Study. ( 27579426 )
2016

Variations for Nephrolithiasis

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis:

66
id Symbol AA change Variation ID SNP ID
1 SLC26A1 p.Thr185Met VAR_077135 rs139024319
2 SLC26A1 p.Ser358Leu VAR_077136 rs148832260

ClinVar genetic disease variations for Nephrolithiasis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC26A1 NM_134425.2(SLC26A1): c.554C> T (p.Thr185Met) single nucleotide variant Pathogenic rs139024319 GRCh38 Chromosome 4, 991150: 991150
2 SLC26A1 NM_022042.3(SLC26A1): c.1073C> T (p.Ser358Leu) single nucleotide variant Pathogenic rs148832260 GRCh38 Chromosome 4, 989866: 989866

Expression for Nephrolithiasis

Search GEO for disease gene expression data for Nephrolithiasis.

Pathways for Nephrolithiasis

Pathways related to Nephrolithiasis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.4 AGXT GRHPR
2 10.05 HPRT1 XDH

GO Terms for Nephrolithiasis

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

id Name GO ID Score Top Affiliating Genes
1 vesicle GO:0031982 9.46 SLC34A1 SLC34A3 SLC9A3R1 SPP1
2 apical plasma membrane GO:0016324 9.35 CASR SLC34A1 SLC34A3 SLC9A3R1 UMOD
3 brush border membrane GO:0031526 8.92 SLC34A1 SLC34A3 SLC3A1 SLC9A3R1

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

(show all 16)
id Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.89 CLCN5 CLDN16 SLC26A1 SLC34A1 SLC34A3
2 glyoxylate metabolic process GO:0046487 9.56 AGXT GRHPR
3 cellular nitrogen compound metabolic process GO:0034641 9.55 AGXT GRHPR
4 decidualization GO:0046697 9.54 SPP1 VDR
5 nucleoside metabolic process GO:0009116 9.52 APRT HPRT1
6 phosphate ion transmembrane transport GO:0035435 9.51 SLC34A1 SLC34A3
7 lactation GO:0007595 9.5 APRT VDR XDH
8 grooming behavior GO:0007625 9.48 APRT HPRT1
9 purine-containing compound salvage GO:0043101 9.46 APRT HPRT1
10 phosphate ion transport GO:0006817 9.43 SLC34A1 SLC34A3
11 sodium-dependent phosphate transport GO:0044341 9.4 SLC34A1 SLC34A3
12 purine ribonucleoside salvage GO:0006166 9.37 APRT HPRT1
13 adenine metabolic process GO:0046083 9.26 APRT HPRT1
14 adenine salvage GO:0006168 9.16 APRT HPRT1
15 cellular phosphate ion homeostasis GO:0030643 9.13 SLC34A1 SLC34A3 SLC9A3R1
16 excretion GO:0007588 8.92 CLCN5 CLDN16 GRHPR UMOD

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

id Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 9.26 AGXT CASR
2 protein homodimerization activity GO:0042803 9.17 AGXT CASR GRHPR HPRT1 SLC34A1 XDH
3 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
4 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.96 SLC34A1 SLC34A3

Sources for Nephrolithiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
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48 NDF-RT
51 NINDS
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60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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