MCID: NPH009
MIFTS: 55

Nephrolithiasis

Categories: Nephrological diseases, Genetic diseases

Aliases & Classifications for Nephrolithiasis

MalaCards integrated aliases for Nephrolithiasis:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:585
ICD10 33 N20 N20.2
ICD9CM 35 592
UMLS 69 C0156257

Summaries for Nephrolithiasis

MalaCards based summary : Nephrolithiasis, also known as nephrolithiasis, calcium oxalate, is related to hypophosphatemic rickets and hypercalciuria, absorptive, and has symptoms including renal pain An important gene associated with Nephrolithiasis is SLC26A1 (Solute Carrier Family 26 Member 1), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Glyoxylate and dicarboxylate metabolism. The drugs Ketorolac and Menthol have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are homeostasis/metabolism and growth/size/body region

Wikipedia : 72 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 148)
id Related Disease Score Top Affiliating Genes
1 hypophosphatemic rickets 30.9 CLCN5 CLCNKB CLDN16
2 hypercalciuria, absorptive 30.5 CASR CLCN5 CLDN16 SLC34A3
3 nephrolithiasis, type i 12.2
4 nephrolithiasis, uric acid 12.2
5 nephrolithiasis, calcium oxalate 12.1
6 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.1
7 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.1
8 dent disease 11.9
9 dominant hypophosphatemia with nephrolithiasis or osteoporosis 11.7
10 adenine phosphoribosyltransferase deficiency 11.1
11 hyperglycinuria 11.1
12 hypouricemia, renal 10.8
13 hypouricemia, renal, 2 10.8
14 renal tubular acidosis, distal, ad 10.8
15 renal tubular acidosis, distal, ar 10.8
16 hypotonia-cystinuria syndrome 10.8
17 dent disease 2 10.7
18 hyperphosphatasia-intellectual disability syndrome 10.7 SLC34A1 SLC9A3R1
19 renal tubular acidosis with deafness 10.7
20 hyperoxaluria, primary, type 1 10.7
21 polycystic kidney disease 1 10.7
22 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.7
23 renal tubular acidosis, distal 10.7
24 slc4a1-associated distal renal tubular acidosis 10.7
25 parathyroid carcinoma 10.7
26 renal tubular acidosis, distal, autosomal recessive 10.7
27 hyperoxaluria, primary, type ii 10.7
28 amniotic band syndrome 10.4 CLCN5 SLC34A1 SLC3A1
29 isolated duane retraction syndrome 10.4 SLC34A1 SLC34A3
30 spinocerebellar ataxia 5 10.4 SLC22A12 SLC2A9
31 prostate cancer, hereditary, x-linked 2 10.3 CLCN5 SLC34A1 SLC34A3
32 commensal bacterial infectious disease 10.2 CLCN5 SLC34A1 SLC34A3
33 nephrocalcinosis 10.2
34 joubert syndrome 9 10.2 SLC34A1 SLC34A3
35 protein-losing enteropathy 10.2 CLCN5 SLC34A1 SLC34A3
36 silver-russell syndrome due to 11p15 microduplication 10.1 CASR CLCN5 SLC34A3
37 gastric antral vascular ectasia 10.1 CASR SLC34A1 SLC34A3
38 medullary cystic kidney disease 2 10.1 SLC22A12 UMOD
39 coffin-lowry syndrome 10.1 SLC34A1 SLC34A3
40 kidney disease 10.0
41 obesity 10.0
42 ureterolithiasis 10.0
43 kidney papillary necrosis 10.0 AGXT GRHPR
44 medullary sponge kidney 9.9
45 charcot-marie-tooth disease, type 4k 9.9 CLDN16 SLC34A1 SLC34A3
46 gaucher's disease 9.9 SLC22A12 SLC2A9 UMOD
47 hyperparathyroidism 9.9
48 renal tubular acidosis 9.9
49 cystinuria 9.9
50 autosomal dominant polycystic kidney disease 9.9

Graphical network of the top 20 diseases related to Nephrolithiasis:



Diseases related to Nephrolithiasis

Symptoms & Phenotypes for Nephrolithiasis

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 AGXT APRT CASR CLCN5 CLCNKB CLDN16
2 growth/size/body region MP:0005378 10.02 CASR CLCN5 SLC22A12 SLC2A9 SLC34A1 SLC34A3
3 renal/urinary system MP:0005367 9.86 SLC9A3R1 SPP1 UMOD AGXT APRT CASR
4 digestive/alimentary MP:0005381 9.85 CASR SLC22A12 SLC26A1 SLC2A9 SLC34A3 SLC9A3R1
5 immune system MP:0005387 9.76 APRT CASR GRHPR SLC26A1 SLC2A9 SLC3A1
6 skeleton MP:0005390 9.28 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 305)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
2
Menthol Approved Phase 4 2216-51-5 16666
3
Tamsulosin Approved, Investigational Phase 4,Phase 3 106133-20-4 129211
4
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
5
Losartan Approved Phase 4 114798-26-4 3961
6
Selenium Approved, Vet_approved Phase 4 7782-49-2
7
Verapamil Approved Phase 4 52-53-9 2520
8
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
9
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
10
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
11
Remifentanil Approved Phase 4 132875-61-7 60815
12
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
13
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
14
Bupivacaine Approved, Investigational Phase 4,Phase 3 2180-92-9, 38396-39-3 2474
15
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
16
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
17
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
18
Ondansetron Approved Phase 4 99614-02-5 4595
19
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
20
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
21
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
22
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
23
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
24
Allopurinol Approved Phase 4,Phase 2 315-30-0 2094
25
Potassium Citrate Approved, Vet_approved Phase 4,Phase 3,Phase 2
26
Silodosin Approved Phase 4,Phase 3,Phase 2 160970-54-7
27
Benzocaine Approved Phase 4 1994-09-7, 94-09-7 2337
28
Cephalexin Approved, Vet_approved Phase 4 15686-71-2 27447
29
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
30
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
31
Sulfamethoxazole Approved Phase 4 723-46-6 5329
32
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
33
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
34
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
35
Vancomycin Approved Phase 4 1404-90-6 441141 14969
36
Tranexamic Acid Approved Phase 4 1197-18-8 5526
37 Mirabegron Approved Phase 4 223673-61-8
38
Lesinurad Approved Phase 4 878672-00-5 53465279
39
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
40
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
41
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 67-97-0 6221 10883523 5280795
42
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 50-14-6 5280793
43
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 1406-16-2
44
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
45 tannic acid Approved, Nutraceutical Phase 4
46
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 1 59-30-3 6037
47
leucovorin Approved, Nutraceutical Phase 4,Phase 1 58-05-9 143 6006
48 Naftopidil Investigational Phase 4 57149-07-2
49
Uric Acid Experimental, Investigational Phase 4,Phase 2,Early Phase 1 69-93-2 1175
50
Angiotensin II Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143

Interventional clinical trials:

(show top 50) (show all 286)

id Name Status NCT ID Phase Drugs
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 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
3 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
4 Quality of Life in Patients With Double Loop Ureteral Stent (JJ Silicone Hydrogel Study) Unknown status NCT02489656 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 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
7 Naftopidil 75mg for Improving Clearance of Urinary Stones Unknown status NCT02011737 Phase 4 naftopidil 75mg
8 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
9 The Use of Intranasal Ketoralac for Pain Management Unknown status NCT01736358 Phase 4 Intranasal Ketoralac;Placebo
10 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 Potassium-sodium citrate
11 Intravenous Ketorolac for Postoperative Pain in Percutaneous Nephrolithotomy Completed NCT00765128 Phase 4 Ketorolac;Placebo
12 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
13 Study of Tomography of Nephrolithiasis Evaluation Completed NCT01451931 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 Antioxidant group;Calcium Channel Blockers;Angiotensin receptor blocker group;Placebo
15 Efficacy Study of Different Analgesic Options in Kidney Stone Pain Management Completed NCT02187614 Phase 4 Diclofenac;Morphine;Paracetamol;Placebos
16 Remifentanil in Extracorporeal Shock Wave Lithotripsy Completed NCT01452880 Phase 4 Remifentanil;Remifentanil
17 Comparison Between Tramadol Hcl and Other Analgesics in the Treatment of Renal Colic Completed NCT00310908 Phase 4 Tramadol Hcl
18 Tamsulosin for Urolithiasis in the Emergency Dept Completed NCT00382265 Phase 4 tamsulosin
19 Segmental Epidural Anesthesia (SEA) V/S General Anesthesia for PCNL Completed NCT02878512 Phase 4
20 Ultrasound Guided Thoracic Paravertebral Block for Percutaneous Nephrolithotomy Operations in Children Completed NCT02291692 Phase 4
21 The Comparison of Low Thoracic Paravertebral Block Versus Peritubal Infiltration Completed NCT02764008 Phase 4 Bupivacaine
22 Therapeutic Merit of Solifenacin in the Mitigation of Ureteral Stent-induced Pain and Lower Urinary Tract Symptoms Completed NCT01381120 Phase 4 Solifenacin succinate treatment;Oxycodone and acetaminophen combination treatment
23 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Recruiting NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
24 Struvite Stones Antibiotic Study Recruiting NCT02375295 Phase 4 ciprofloxacin, cotrimoxazole-trimethoprim, macrodantin
25 A Randomized Trial of Preoperative Prophylactic Antibiotics Prior to Kidney Stone Surgery (Percutaneous Nephrolithotomy [PCNL]) Recruiting NCT02384200 Phase 4 nitrofurantoin monohydrate/macrocrystalline capsules;ampicillin;gentamicin;vancomycin;ceftriaxone
26 Impact of Tranexamic Acid Use in Percutaneous Nephrolithotomy Recruiting NCT02966236 Phase 4 Tranexamic Acid;Placebos
27 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Recruiting NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
28 Alkalinization by Urologists & Nephrologists Recruiting NCT03035812 Phase 4 Alkali
29 A Phase 4 Safety and Efficacy Study to Evaluate Lesinurad 200 mg in Participants With Gout and Renal Impairment Recruiting NCT03226899 Phase 4 Lesinurad;XOI;Placebo
30 VITamine D Supplementation in RenAL Transplant Recipients - VITALE Active, not recruiting NCT01431430 Phase 4 Cholecalciferol 100 000 UI;Cholecalciferol 12 000 UI
31 Trial of Tadalafil, Tamsulosin and Combination for Access Sheath Deployment Enrolling by invitation NCT03229889 Phase 4 Cialis 5Mg Tablet;Flomax 0.4Mg Capsule;Placebo
32 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Percutaneous Nephrolithotomy Not yet recruiting NCT02818140 Phase 4 Ropivacaine;Saline
33 Silodosin Versus Tamsulosin for Treatment of Ureteral Stones Terminated NCT02369744 Phase 4 Silodosin;Tamsulosin
34 Use of a Ureteral Access Sheath During Ureteroscopy and Its Effect on Stone Free Rate Terminated NCT00199524 Phase 4
35 Trial of High Dose Vitamin D in Patient's With Crohn's Disease Terminated NCT02208310 Phase 4 Cholecalciferol 10,000 IU;Cholecalciferol 400 IU
36 Effects of the Use of Adjuvant Drugs After Extracorporeal Shockwave Lithotripsy (ESWL) in Renal Calculus Unknown status NCT01215708 Phase 3 Tamsulosin
37 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney Unknown status NCT00959153 Phase 3
38 Alfuzosin for Medical Expulsion Therapy of Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
39 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
40 Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
41 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
42 Visceral Pain From the Upper Urinary Tract - a Trial on the Effect of Morphine and Oxycodone in Patients Undergoing PCNL Completed NCT00784472 Phase 3 oxycodone;morphine
43 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3 Isoproterenol
44 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate
45 Alfuzosin Hydrochloride to Promote Passage of Distal Ureteral Calculi Completed NCT00177086 Phase 3
46 The StoneBreakerTM Trial Completed NCT00677196 Phase 3
47 Trial Of Paricalcitol and Cholecalciferol(Vitamin D3) in the Treatment Of Secondary Hyperparathyroidism in Patients After ROUX-EN-Y Gastric Bypass Surgery Completed NCT01138475 Phase 3 Paricalcitol;Cholecalciferol;Placebo
48 Effects of PTH Replacement on Bone in Hypoparathyroidism Completed NCT00395538 Phase 3 PTH 1-34
49 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo
50 Randomized Double-blind Placebo-controlled Trial Assessing the Efficacy of Standard and Low Dose Hydrochlorothiazide Treatment in the Prevention of Recurrent Nephrolithiasis Recruiting NCT03057431 Phase 3 Placebo oral capsule;12.5 mg hydrochlorothiazide;25.0 mg hydrochlorothiazide;50.0 mg hydrochlorothiazide

Search NIH Clinical Center for Nephrolithiasis

Genetic Tests for Nephrolithiasis

Genetic tests related to Nephrolithiasis:

id Genetic test Affiliating Genes
1 Nephrolithiasis 29

Anatomical Context for Nephrolithiasis

MalaCards organs/tissues related to Nephrolithiasis:

39
Kidney, Bone, Prostate, Liver, Colon, Heart, Neutrophil
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 746)
id Title Authors Year
1
Postmenopausal hormone and the risk of nephrolithiasis: A meta-analysis. ( 28900379 )
2017
2
Infant nephrolithiasis and nephrocalcinosis: Natural history and predictors of surgical intervention. ( 28729176 )
2017
3
Nephrolithiasis: A complication of pediatric diabetic ketoacidosis. ( 28737266 )
2017
4
24-Hour Urine Calcium in the Evaluation and Management of Nephrolithiasis. ( 28763529 )
2017
5
Re: Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients. ( 28618678 )
2017
6
Pseudomonas aeruginosa as an Etiologic Agent of Nephrolithiasis in Deep Water Divers. ( 28164160 )
2017
7
Marked increase in urinary excretion of apolipoproteins in children with nephrolithiasis associated with hypercalciuria. ( 28188435 )
2017
8
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
9
Response to: A role for thiazide diuretic therapy in preventing bone loss, fracture and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194475 )
2017
10
Relationship between Urinary Calcium and Bone Mineral Density in Patients with Calcium Nephrolithiasis. ( 28063842 )
2017
11
National Imaging Trends After Ureteroscopic or Shockwave Lithotripsy For Nephrolithiasis. ( 28941916 )
2017
12
Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients. ( 28760704 )
2017
13
Incidence of and risk factors for nephrolithiasis in patients with gout and the general population, a cohort study. ( 28738835 )
2017
14
Adherence to the Mediterranean Dietary Pattern and Incidence of Nephrolithiasis in the Seguimiento Universidad de Navarra Follow-up (SUN) Cohort. ( 28838765 )
2017
15
Multiple sclerosis and nephrolithiasis: a matched-case comparative study. ( 28220601 )
2017
16
Co-Occurrence of Asthma and Nephrolithiasis in Children. ( 28081237 )
2017
17
Development of Nephrolithiasis in Asymptomatic Hyperuricemia: A Cohort Study. ( 28410765 )
2017
18
Metabolic syndrome contributes to renal injury mediated by hyperoxaluria in a murine model of nephrolithiasis. ( 28405703 )
2017
19
Hounsfield Units for nephrolithiasis: predictive power for the clinical urologist. ( 28646939 )
2017
20
Antiurolithiatic and antioxidant efficacy of Musa paradisiaca pseudostem on ethylene glycol-induced nephrolithiasis in rat. ( 28458427 )
2017
21
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
22
Transient hyperphosphatemia in a child with nephrolithiasis and severe prematurity. ( 28325562 )
2017
23
The molecular mechanisms of androgen receptor in nephrolithiasis. ( 28336462 )
2017
24
Corrigendum to "The role of sodium intake in nephrolithiasis: Epidemiology, pathogenesis, and future directions" [Eur J Intern Med 35 (2016) 16-19]. ( 27899242 )
2017
25
Association Between Sonographically Diagnosed Nephrolithiasis and Subclinical Coronary Artery CalcificationA inA Adults. ( 28823586 )
2017
26
Urolithiasis and nephrolithiasis. ( 28858017 )
2017
27
Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. ( 28851305 )
2017
28
Re: Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis. ( 28505913 )
2017
29
Lifetime Radiation Exposure in Patients with Recurrent Nephrolithiasis. ( 28900827 )
2017
30
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis andA nephrocalcinosis. ( 28893421 )
2017
31
A role for thiazide diuretic therapy in preventing bone loss, fracture, and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194474 )
2017
32
Association of MMP-9 gene polymorphisms with nephrolithiasis patients. ( 28205286 )
2017
33
Association between nephrolithiasis and fatty liver detected on non-enhanced CT for clinically suspected renal colic. ( 28324714 )
2017
34
A 10-Year Retrospective Review of Nephrolithiasis in the Navy and Navy Pilots. ( 28235550 )
2017
35
The Relationship Between Nephrolithiasis Risk with Body Fat Measured by Body Composition Analyzer in Obese People. ( 28883679 )
2017
36
Glutathione Peroxidase 1 Gene Polymorphism in Nephrolithiasis Patients From South of Iran. ( 28174350 )
2017
37
Etiopathogenesis of Nephrolithiasis in Ulcerative Colitis Patients with the Ileal Pouch Anal Anastomosis. ( 28301430 )
2017
38
Nephrolithiasis in elderly population; effect of demographic characteristics. ( 28491855 )
2017
39
Inhibitory effect of an aqueous extract of Radix Paeoniae Alba on calcium oxalate nephrolithiasis in a rat model. ( 28085537 )
2017
40
Ultralow Radiation Exposure During Flexible Ureteroscopy in Patients With Nephrolithiasis-How Far Can We Go? ( 28648966 )
2017
41
Clinical predictors of an abnormal ultrasound in patients presenting with suspected nephrolithiasis. ( 28811768 )
2017
42
Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. ( 28775128 )
2017
43
Epidemiology and economics of nephrolithiasis. ( 28868500 )
2017
44
Childhood parathyroid adenoma: a rare but important cause of nephrolithiasis. ( 27054596 )
2016
45
Percutaneous Approach to a Complicated Case of Nephrolithiasis in a Pregnant Woman: A Case Study. ( 27579426 )
2016
46
Emergency Department Imaging Modality Effect on Surgical Management of Nephrolithiasis: A Multicenter, Randomized Clinical Trial. ( 27773846 )
2016
47
An Increase Incidence in Uric Acid Nephrolithiasis: Changing Patterns. ( 27630833 )
2016
48
Nephrolithiasis, stone composition, meteorology, and seasons in Malta: Is there any connection? ( 27453655 )
2016
49
Association between OPN genetic variations and nephrolithiasis risk. ( 27602211 )
2016
50
Recurrent nephrolithiasis associated with keratinizing desquamative squamous metaplasia. ( 27995855 )
2016

Variations for Nephrolithiasis

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

GO Terms for Nephrolithiasis

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.91 CASR CLCN5 CLCNKB SLC22A12 SLC26A1 SLC34A1
2 basolateral plasma membrane GO:0016323 9.56 CASR SLC26A1 SLC2A9 UMOD
3 apical plasma membrane GO:0016324 9.5 CASR SLC22A12 SLC2A9 SLC34A1 SLC34A3 SLC9A3R1
4 vesicle GO:0031982 9.46 SLC34A1 SLC34A3 SLC9A3R1 SPP1
5 brush border membrane GO:0031526 9.02 SLC22A12 SLC34A1 SLC34A3 SLC3A1 SLC9A3R1
6 plasma membrane GO:0005886 10.1 CASR CLCN5 CLCNKB CLDN16 SLC22A12 SLC26A1

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.91 CLCN5 CLCNKB CLDN16 SLC22A12 SLC26A1 SLC2A9
2 transmembrane transport GO:0055085 9.8 CLCN5 CLCNKB SLC22A12 SLC26A1 SLC2A9 SLC34A3
3 ion transport GO:0006811 9.7 CLCN5 CLCNKB CLDN16 SLC22A12 SLC26A1 SLC34A1
4 chloride transmembrane transport GO:1902476 9.67 CLCN5 CLCNKB SLC26A1
5 chloride transport GO:0006821 9.63 CLCN5 CLCNKB SLC26A1
6 cellular nitrogen compound metabolic process GO:0034641 9.54 AGXT GRHPR
7 phosphate ion transmembrane transport GO:0035435 9.52 SLC34A1 SLC34A3
8 regulation of anion transmembrane transport GO:1903959 9.51 CLCN5 CLCNKB
9 organic acid transmembrane transport GO:1903825 9.48 SLC22A12 SLC2A9
10 urate metabolic process GO:0046415 9.43 SLC22A12 SLC2A9
11 phosphate ion transport GO:0006817 9.4 SLC34A1 SLC34A3
12 sodium-dependent phosphate transport GO:0044341 9.37 SLC34A1 SLC34A3
13 cellular phosphate ion homeostasis GO:0030643 9.13 SLC34A1 SLC34A3 SLC9A3R1
14 excretion GO:0007588 9.02 CLCN5 CLCNKB CLDN16 GRHPR UMOD

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

id Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.83 AGXT CASR GRHPR SLC34A1 ZNF365
2 PDZ domain binding GO:0030165 9.54 SLC22A12 SLC34A1 SLC9A3R1
3 amino acid binding GO:0016597 9.4 AGXT CASR
4 voltage-gated chloride channel activity GO:0005247 9.32 CLCN5 CLCNKB
5 urate transmembrane transporter activity GO:0015143 9.26 SLC22A12 SLC2A9
6 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
7 chloride channel activity GO:0005254 9.13 CLCN5 CLCNKB SLC26A1
8 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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