Aliases & Classifications for Nephrolithiasis

MalaCards integrated aliases for Nephrolithiasis:

Name: Nephrolithiasis 38 12 76 29 55 6 44 15 73
Kidney Stones 12 15
Nephrolithiasis, Calcium Oxalate 12
Urolithiasis, Calcium Oxalate 12
Calculus of Kidney and Ureter 12
Stone - Kidney/ureter 12
Kidney Calculi 73

Classifications:



External Ids:

Disease Ontology 12 DOID:585
ICD10 33 N20 N20.2
ICD9CM 35 592
MeSH 44 D053040

Summaries for Nephrolithiasis

MalaCards based summary : Nephrolithiasis, also known as kidney stones, is related to nephrolithiasis, calcium oxalate and dent disease 1, and has symptoms including renal pain An important gene associated with Nephrolithiasis is SLC34A1 (Solute Carrier Family 34 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 Parathyroid hormone synthesis, secretion and action. The drugs Tamsulosin and Lidocaine have been mentioned in the context of this disorder. Affiliated tissues include Kidney, kidney and bone, and related phenotypes are homeostasis/metabolism and renal/urinary system

Wikipedia : 76 Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... more...

Related Diseases for Nephrolithiasis

Diseases related to Nephrolithiasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 209)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 33.9 AGXT APRT CASR CLCN5 GRHPR SLC26A1
2 dent disease 1 33.7 CLCN5 CLCNKB CLDN16
3 dominant hypophosphatemia with nephrolithiasis or osteoporosis 33.5 SLC34A1 SLC9A3R1
4 hypouricemia, renal, 1 32.5 SLC22A12 SLC2A9
5 hypophosphatemic rickets, x-linked recessive 32.3 CLCN5 SLC34A1 SLC34A3
6 acute urate nephropathy 32.3 SLC22A12 ZNF365
7 hypercalciuria, absorptive, 2 32.2 CASR CLCN5 CLDN16 SLC34A3
8 idiopathic hypercalciuria 30.8 CASR CLCN5 SLC34A3
9 gout 30.5 APRT SLC22A12 SLC2A9
10 hypophosphatemia 30.4 CLCN5 SLC34A1 SLC34A3
11 chronic kidney failure 30.4 AGXT CASR CLDN16 SPP1
12 rickets 30.3 CLCN5 SLC34A1 SLC34A3
13 nephrocalcinosis 30.2 AGXT ATP6V1B1 CASR CLCN5 CLCNKB CLDN16
14 hereditary hypophosphatemic rickets 30.0 SLC34A1 SLC34A3
15 hypophosphatemic rickets with hypercalciuria, hereditary 29.9 CLDN16 SLC34A1 SLC34A3
16 xanthinuria 29.9 APRT CLDN16 SLC22A12 SLC2A9
17 bartter disease 29.9 CASR CLCN5 CLCNKB SLC12A1
18 pulmonary alveolar microlithiasis 29.7 SLC34A1 SLC34A3
19 nephrolithiasis, x-linked recessive, with renal failure 12.6
20 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.4
21 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.4
22 nephrolithiasis, uric acid 12.4
23 adenine phosphoribosyltransferase deficiency 11.5
24 hyperglycinuria 11.5
25 hyperparathyroidism 2 with jaw tumors 11.4
26 renal tubular acidosis, distal 11.3
27 alkaptonuria 11.2
28 dent disease 2 11.2
29 hypocalcemia, autosomal dominant 1 11.1
30 renal tubular acidosis, distal, autosomal dominant 11.1
31 hypotonia-cystinuria syndrome 11.1
32 renal tubular acidosis, distal, with hemolytic anemia 11.1
33 hypouricemia, renal, 2 11.1
34 urolithiasis, uric acid, autosomal dominant 11.0
35 multiple endocrine neoplasia, type i 11.0
36 hypomagnesemia 3, renal 11.0
37 congenital short bowel syndrome 11.0
38 hypocalcemia, autosomal dominant 2 11.0
39 hypoparathyroidism 11.0
40 osteitis fibrosa 11.0
41 familial isolated hyperparathyroidism 11.0
42 hypocalciuric hypercalcemia, familial, type i 10.9
43 polycystic kidney disease 1 with or without polycystic liver disease 10.9
44 hyperoxaluria, primary, type i 10.9
45 hyperoxaluria, primary, type ii 10.9
46 renal tubular acidosis, distal, with progressive nerve deafness 10.9
47 renal tubular acidosis, distal, autosomal recessive 10.9
48 parathyroid carcinoma 10.9
49 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.9
50 slc4a1-associated distal renal tubular acidosis 10.9

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.09 AGXT APRT ATP6V1B1 CASR CLCN5 CLCNKB
2 renal/urinary system MP:0005367 9.89 AGXT APRT ATP6V1B1 CASR CLCN5 CLCNKB
3 skeleton MP:0005390 9.32 ATP6V1B1 CASR CLCN5 SLC12A1 SLC34A1 SLC34A3

Drugs & Therapeutics for Nephrolithiasis

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

(show top 50) (show all 345)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tamsulosin Approved, Investigational Phase 4,Phase 3,Not Applicable 106133-20-4 129211
2
Lidocaine Approved, Vet_approved Phase 4,Not Applicable 137-58-6 3676
3
Allopurinol Approved Phase 4,Phase 2,Phase 1 315-30-0 2094
4 tannic acid Approved Phase 4,Not Applicable
5
Benzocaine Approved, Investigational Phase 4,Not Applicable 94-09-7, 1994-09-7 2337
6
Potassium Citrate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Not Applicable
7
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
8
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
9
Belladonna Approved, Experimental Phase 4
10
Opium Approved, Illicit Phase 4 8008-60-4
11
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 57-27-2 5288826
12
Loperamide Approved Phase 4 53179-11-6 3955
13
Ketorolac Approved Phase 4,Phase 3,Phase 2,Not Applicable,Early Phase 1 66635-83-4, 74103-06-3 3826
14
Losartan Approved Phase 4 114798-26-4 3961
15
Verapamil Approved Phase 4 52-53-9 2520
16
Selenium Approved, Investigational, Vet_approved Phase 4,Not Applicable 7782-49-2
17
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198 65143
18
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
19
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Not Applicable 103-90-2 1983
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
21
Remifentanil Approved Phase 4 132875-61-7 60815
22
Tramadol Approved, Investigational Phase 4,Not Applicable 27203-92-5 33741
23
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
24
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
25
Bupivacaine Approved, Investigational Phase 4,Phase 3,Not Applicable 2180-92-9, 38396-39-3 2474
26
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
27
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
28
Ranitidine Approved Phase 4 66357-35-5, 66357-59-3 3001055
29
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
30
Ondansetron Approved Phase 4 99614-02-5 4595
31
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
32
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3,Not Applicable 76-42-6 5284603
33
Alendronate Approved Phase 4,Phase 2 66376-36-1, 121268-17-5 2088
34
leucovorin Approved Phase 4,Phase 1,Not Applicable 58-05-9 6006 143
35
Silodosin Approved Phase 4,Phase 3,Phase 2 160970-54-7
36
Ciprofloxacin Approved, Investigational Phase 4,Not Applicable 85721-33-1 2764
37
Cephalexin Approved, Investigational, Vet_approved Phase 4,Not Applicable 15686-71-2 27447
38
Trimethoprim Approved, Vet_approved Phase 4,Not Applicable 738-70-5 5578
39
Nitrofurantoin Approved, Vet_approved Phase 4,Not Applicable 67-20-9 5353830
40
Sulfamethoxazole Approved Phase 4,Not Applicable 723-46-6 5329
41
Tranexamic Acid Approved Phase 4 1197-18-8 5526
42 Mirabegron Approved Phase 4 223673-61-8
43
Ampicillin Approved, Vet_approved Phase 4,Not Applicable 69-53-4 6249
44
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
45
Vancomycin Approved Phase 4 1404-90-6 14969 441141
46
Lesinurad Approved, Investigational Phase 4 878672-00-5
47
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
48
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 50-14-6 5280793
49
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 67-97-0 5280795 6221
50
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 1406-16-2

Interventional clinical trials:

(show top 50) (show all 360)
# 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 Quality of Life in Patients With Double Loop Ureteral Stent (JJ Silicone Hydrogel Study) Unknown status NCT02489656 Phase 4
4 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
5 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
6 Naftopidil 75mg for Improving Clearance of Urinary Stones Unknown status NCT02011737 Phase 4 naftopidil 75mg
7 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
8 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
9 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
10 The Use of Belladonna and Opium Suppository in the Treatment of Postoperative Stent Pain Completed NCT03332056 Phase 4 Belladonna and Opium
11 Vitamin D Repletion in Stone Formers With Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
12 Intravenous Ketorolac for Postoperative Pain in Percutaneous Nephrolithotomy Completed NCT00765128 Phase 4 Ketorolac;Placebo
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 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Percutaneous Nephrolithotomy Completed NCT02818140 Phase 4 Ropivacaine;Saline
16 Efficacy Study of Different Analgesic Options in Kidney Stone Pain Management Completed NCT02187614 Phase 4 Diclofenac;Morphine;Paracetamol;Placebos
17 Remifentanil in Extracorporeal Shock Wave Lithotripsy Completed NCT01452880 Phase 4 Remifentanil;Remifentanil
18 Comparison Between Tramadol Hcl and Other Analgesics in the Treatment of Renal Colic Completed NCT00310908 Phase 4 Tramadol Hcl
19 Tamsulosin for Urolithiasis in the Emergency Dept Completed NCT00382265 Phase 4 tamsulosin
20 Segmental Epidural Anesthesia (SEA) V/S General Anesthesia for PCNL Completed NCT02878512 Phase 4
21 Ultrasound Guided Thoracic Paravertebral Block for Percutaneous Nephrolithotomy Operations in Children Completed NCT02291692 Phase 4
22 The Comparison of Low Thoracic Paravertebral Block Versus Peritubal Infiltration Completed NCT02764008 Phase 4 Bupivacaine
23 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
24 VITamine D Supplementation in RenAL Transplant Recipients - VITALE Completed NCT01431430 Phase 4 Cholecalciferol 100 000 UI;Cholecalciferol 12 000 UI
25 Assessment of Response to Treatment of Osteoporosis With Oral Bisphosphonates in Patients With Muscular Dystrophy Completed NCT01882400 Phase 4 Bisphosphonate treatment
26 Study Evaluating Safety And Efficacy Of Moroctocog Alfa (AF-CC) In Previously Treated Hemophilia A Patients Completed NCT00914459 Phase 4
27 Struvite Stones Antibiotic Study Recruiting NCT02375295 Phase 4 ciprofloxacin, cotrimoxazole-trimethoprim, macrodantin
28 Impact of Tranexamic Acid Use in Percutaneous Nephrolithotomy Recruiting NCT02966236 Phase 4 Tranexamic Acid;Placebos
29 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Recruiting NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
30 Antibiotic Prophylaxis Before Shock Wave Lithotripsy Recruiting NCT03692715 Phase 4 Ciprofloxacin;Placebo
31 Alkalinization by Urologists & Nephrologists Recruiting NCT03035812 Phase 4 Alkali
32 A Randomized Trial of Preoperative Prophylactic Antibiotics Prior to Kidney Stone Surgery (Percutaneous Nephrolithotomy [PCNL]) Active, not recruiting NCT02384200 Phase 4 nitrofurantoin monohydrate/macrocrystalline capsules;ampicillin;gentamicin;vancomycin;ceftriaxone
33 A Phase 4 Safety and Efficacy Study to Evaluate Lesinurad 200 mg in Participants With Gout and Renal Impairment Active, not recruiting NCT03226899 Phase 4 Lesinurad;XOI;Placebo
34 Trial of Tadalafil, Tamsulosin and Combination for Access Sheath Deployment Enrolling by invitation NCT03229889 Phase 4 Cialis 5Mg Tablet;Flomax 0.4Mg Capsule;Placebo
35 Daily Versus Twice Per Day Tamsulosin for Ureteral Stent Symptoms Not yet recruiting NCT03799120 Phase 4 Tamsulosin BID
36 Trial of High Dose Vitamin D in Patient's With Crohn's Disease Terminated NCT02208310 Phase 4 Cholecalciferol 10,000 IU;Cholecalciferol 400 IU
37 Silodosin Versus Tamsulosin for Treatment of Ureteral Stones Terminated NCT02369744 Phase 4 Silodosin;Tamsulosin
38 Use of a Ureteral Access Sheath During Ureteroscopy and Its Effect on Stone Free Rate Terminated NCT00199524 Phase 4
39 The Use of Intranasal Ketoralac for Pain Management Terminated NCT01736358 Phase 4 Intranasal Ketoralac;Placebo
40 Pre-induction Analgesia: Multimodel Regimen vs Aceteminophen for Post Ureteroscopy Pain Withdrawn NCT03549611 Phase 4 Multimodal Oral Drug Regimen;Acetaminophen
41 Effects of the Use of Adjuvant Drugs After Extracorporeal Shockwave Lithotripsy (ESWL) in Renal Calculus Unknown status NCT01215708 Phase 3 Tamsulosin
42 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney Unknown status NCT00959153 Phase 3
43 Alfuzosin for Medical Expulsion Therapy of Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
44 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
45 Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
46 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, 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 oxycodone;morphine
48 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3 Isoproterenol
49 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate
50 Alfuzosin Hydrochloride to Promote Passage of Distal Ureteral Calculi Completed NCT00177086 Phase 3

Search NIH Clinical Center for Nephrolithiasis

Cochrane evidence based reviews: nephrolithiasis

Genetic Tests for Nephrolithiasis

Genetic tests related to Nephrolithiasis:

# Genetic test Affiliating Genes
1 Nephrolithiasis 29

Anatomical Context for Nephrolithiasis

MalaCards organs/tissues related to Nephrolithiasis:

41
Kidney, Bone, Testes, Heart, Spinal Cord, Liver, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Nephrolithiasis

Articles related to Nephrolithiasis:

(show top 50) (show all 1901)
# Title Authors Year
1
Gastrin-releasing peptide receptor gene silencing inhibits the development of the epithelial-mesenchymal transition and formation of a calcium oxalate crystal in renal tubular epithelial cells in mice with kidney stones via the PI3K/Akt signaling pathway. ( 30144073 )
2019
2
Risk of Nephrolithiasis in Patients With Sleep Apnea: A Population-Based Cohort Study. ( 29734978 )
2018
3
Lack of evidence that nephrolithiasis increases the risk of sialolithiasis: A longitudinal follow-up study using a national sample cohort. ( 29698468 )
2018
4
Claudins and nephrolithiasis. ( 29782346 )
2018
5
A novel mutation of Dent's disease in an 11-year-old male with nephrolithiasis and nephrocalcinosis. ( 29756720 )
2018
6
Pediatric nephrolithiasis: a systematic approach from diagnosis to treatment. ( 29680873 )
2018
7
The accuracy and prognostic value of point-of-care ultrasound for nephrolithiasis in the emergency department: A Systematic Review and Meta-Analysis. ( 29427476 )
2018
8
Beginnings of nephrolithiasis: insights into the past, present and future of Randall's plaque formation research. ( 29697409 )
2018
9
Current opinions on nephrolithiasis associated with primary hyperparathyroidism. ( 29350243 )
2018
10
Is sodium thiosulfate an effective treatment for recurrent calcium nephrolithiasis? Pro and con arguments. ( 29948862 )
2018
11
Study of Urine Composition of Patients With Recurrent Nephrolithiasis in Lorestan, Iran. ( 29421773 )
2018
12
Follow-up imaging after acute evaluations for pediatric nephrolithiasis: Trends from a National database. ( 29866410 )
2018
13
Race- and Sex-related Differences in Nephrolithiasis Risk Among Blacks and Whites in the Southern Community Cohort Study. ( 29753847 )
2018
14
Understanding the gut-kidney axis in nephrolithiasis: an analysis of the gut microbiota composition and functionality of stone formers. ( 29705728 )
2018
15
Influence of BMI in nephrolithiasis in an Appalachian pediatric population: A single-center experience. ( 29887297 )
2018
16
Uric acid nephrolithiasis: An update. ( 29687761 )
2018
17
Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome. ( 29532936 )
2018
18
The clinical efficacy of dual lumen catheter technique in retrograde intrarenal surgery for the management of nephrolithiasis: a propensity score analysis. ( 29316803 )
2018
19
Nephrolithiasis in a 17 Year Old Male with Seckel Syndrome and Horseshoe Kidneys: Case Report and Review of the Literature. ( 29894776 )
2018
20
Genetic polymorphisms of human transcription factor-7 like 2 (TCF7L2), I^-defensin (DEFB1) and CD14 genes in nephrolithiasis patients. ( 29959006 )
2018
21
Nephrolithiasis and Nephrocalcinosis in Childhood-Risk Factor-Related Current and Future Treatment Options. ( 29707529 )
2018
22
Calcium-sensing receptor gene polymorphism (rs7652589) is associated with calcium nephrolithiasis in the population of Yi nationality in Southwestern China. ( 29682741 )
2018
23
Having rs1042636C677T calcium-sensing receptor polymorphism: Increased or decreased risk for nephrolithiasis? ( 29970760 )
2018
24
Stones: Individual gut microbiome in nephrolithiasis. ( 29434367 )
2018
25
Nephrolithiasis and Nephrocalcinosis FromA Topiramate Therapy in Children WithA Epilepsy. ( 29854977 )
2018
26
Mucin 4 Gene Silencing Reduces Oxidative Stress and Calcium Oxalate Crystal Formation in Renal Tubular Epithelial Cells Through the Extracellular Signal-Regulated Kinase Signaling Pathway in Nephrolithiasis Rat Model. ( 29843125 )
2018
27
Urine proteomic profiling in patients with nephrolithiasis and cystinuria. ( 30519981 )
2018
28
Re: Nephrolithiasis and Nephrocalcinosis from Topiramate Therapy in Children with Epilepsy. ( 30360335 )
2018
29
Characteristics of gout patients according to the laterality of nephrolithiasis: A cross-sectional study using helical computed tomography. ( 30485677 )
2018
30
Incidence and characteristics of kidney stones in patients with horseshoe kidney: A systematic review and meta-analysis. ( 29416282 )
2018
31
Different managements of horseshoe kidney stones, any difference in the outcome? ( 30089987 )
2018
32
Timely Evaluation and Management of Primary Hyperparathyroidism in Patients With Kidney Stones. ( 30463775 )
2018
33
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Questions. ( 30112653 )
2018
34
Recurrent kidney stones in a child with Lesch-Nyhan syndrome: Answers. ( 30112657 )
2018
35
Urine osteopontin: A biomarker for diagnosis of nephrolithiasis? ( 30179594 )
2018
36
Single Session Bilateral Vs Staged Bilateral Ureteroscopy for Nephrolithiasis: An Assessment of Safety and Efficacy. ( 30195012 )
2018
37
Urinary proteomics reveals association between pediatric nephrolithiasis and cardiovascular disease. ( 30209738 )
2018
38
Response to the letter to the editor: Urine osteopontin: A biomarker for diagnosis of nephrolithiasis? ( 30243594 )
2018
39
Is oxidized low-density lipoprotein the connection between atherosclerosis, cardiovascular risk and nephrolithiasis? ( 30302491 )
2018
40
Post-Surgical Imaging Patterns in Pediatric Nephrolithiasis: Opportunities for Improvement. ( 30316895 )
2018
41
Nephrolithiasis in living kidney donor: experience of nephrologists. ( 30324973 )
2018
42
Re: Understanding the Gut-Kidney Axis in Nephrolithiasis: An Analysis of the Gut Microbiota Composition and Functionality of Stone Formers. ( 30360336 )
2018
43
The influence of metabolic syndrome and its components on the development of nephrolithiasis. ( 30364536 )
2018
44
Defining metabolic activity of nephrolithiasis - Appropriate evaluation and follow-up of stone formers. ( 30364613 )
2018
45
Medical therapy for nephrolithiasis: State of the art. ( 30364650 )
2018
46
Antepartum nephrolithiasis and the risk of preterm delivery. ( 30368572 )
2018
47
Genetic polymorphism (rs6776158) in CaSR gene is associated with risk of nephrolithiasis in Chinese population. ( 30407299 )
2018
48
Re: Three-Dimensional Evaluation of Perirenal Fat Volume in Patients with Nephrolithiasis. ( 30412975 )
2018
49
Temporary Memory Steal: Transient Global Amnesia Secondary to Nephrolithiasis. ( 30443620 )
2018
50
Calcium-sensing receptor: evidence and hypothesis for its role in nephrolithiasis. ( 30446806 )
2018

Variations for Nephrolithiasis

ClinVar genetic disease variations for Nephrolithiasis:

6 (show all 36)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC9A3R1 NM_004252.4(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign rs119486097 GRCh37 Chromosome 17, 72759575: 72759575
2 SLC9A3R1 NM_004252.4(SLC9A3R1): c.673G> A (p.Glu225Lys) single nucleotide variant Likely benign rs119486097 GRCh38 Chromosome 17, 74763436: 74763436
3 GRHPR NM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs) deletion Pathogenic rs80356708 GRCh37 Chromosome 9, 37424861: 37424861
4 GRHPR NM_012203.1(GRHPR): c.103delG (p.Asp35Thrfs) deletion Pathogenic rs80356708 GRCh38 Chromosome 9, 37424864: 37424864
5 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908523 GRCh37 Chromosome 2, 241808403: 241808403
6 AGXT NM_000030.2(AGXT): c.121G> A (p.Gly41Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908523 GRCh38 Chromosome 2, 240868986: 240868986
7 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh37 Chromosome 2, 241814576: 241814576
8 AGXT NM_000030.2(AGXT): c.731T> C (p.Ile244Thr) single nucleotide variant Pathogenic rs121908525 GRCh38 Chromosome 2, 240875159: 240875159
9 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893726 GRCh37 Chromosome 3, 190126205: 190126205
10 CLDN16 NM_006580.3(CLDN16): c.695T> G (p.Phe232Cys) single nucleotide variant Pathogenic/Likely pathogenic rs104893726 GRCh38 Chromosome 3, 190408416: 190408416
11 ATP6V1B1 NM_001692.3(ATP6V1B1): c.242T> C (p.Leu81Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121964880 GRCh37 Chromosome 2, 71185243: 71185243
12 ATP6V1B1 NM_001692.3(ATP6V1B1): c.242T> C (p.Leu81Pro) single nucleotide variant Pathogenic/Likely pathogenic rs121964880 GRCh38 Chromosome 2, 70958113: 70958113
13 AGXT NM_000030.2(AGXT): c.481G> A (p.Gly161Ser) single nucleotide variant Pathogenic/Likely pathogenic rs180177227 GRCh37 Chromosome 2, 241810823: 241810823
14 AGXT NM_000030.2(AGXT): c.481G> A (p.Gly161Ser) single nucleotide variant Pathogenic/Likely pathogenic rs180177227 GRCh38 Chromosome 2, 240871406: 240871406
15 SLC34A1 NM_003052.4(SLC34A1): c.644+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201304511 GRCh37 Chromosome 5, 176814875: 176814875
16 SLC34A1 NM_003052.4(SLC34A1): c.644+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs201304511 GRCh38 Chromosome 5, 177387874: 177387874
17 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic/Likely pathogenic rs886039884 GRCh38 Chromosome 15, 48234952: 48234952
18 SLC12A1 NM_000338.2(SLC12A1): c.1163delT (p.Phe388Serfs) deletion Pathogenic/Likely pathogenic rs886039884 GRCh37 Chromosome 15, 48527149: 48527149
19 MT-CO3 NC_012920.1: m.9355A> T single nucleotide variant Uncertain significance GRCh37 Chromosome MT, 9355: 9355
20 MT-CO3 NC_012920.1: m.9355A> T single nucleotide variant Uncertain significance GRCh38 Chromosome MT, 9355: 9355
21 CLDN19 NM_148960.2(CLDN19): c.535G> A (p.Gly179Ser) single nucleotide variant Likely pathogenic rs145591298 GRCh38 Chromosome 1, 42735969: 42735969
22 CLDN19 NM_148960.2(CLDN19): c.535G> A (p.Gly179Ser) single nucleotide variant Likely pathogenic rs145591298 GRCh37 Chromosome 1, 43201640: 43201640
23 AGXT NM_000030.2(AGXT): c.1079G> C (p.Arg360Pro) single nucleotide variant Likely pathogenic rs180177161 GRCh38 Chromosome 2, 240878721: 240878721
24 AGXT NM_000030.2(AGXT): c.1079G> C (p.Arg360Pro) single nucleotide variant Likely pathogenic rs180177161 GRCh37 Chromosome 2, 241818138: 241818138
25 SLC3A1 NM_000341.3(SLC3A1): c.592delG (p.Ala198Glnfs) deletion Likely pathogenic GRCh38 Chromosome 2, 44280877: 44280877
26 SLC3A1 NM_000341.3(SLC3A1): c.592delG (p.Ala198Glnfs) deletion Likely pathogenic GRCh37 Chromosome 2, 44508016: 44508016
27 SLC34A1 NM_003052.4(SLC34A1): c.1204G> C (p.Gly402Arg) single nucleotide variant Likely pathogenic rs376131751 GRCh38 Chromosome 5, 177396762: 177396762
28 SLC34A1 NM_003052.4(SLC34A1): c.1204G> C (p.Gly402Arg) single nucleotide variant Likely pathogenic rs376131751 GRCh37 Chromosome 5, 176823763: 176823763
29 SLC34A1 NM_003052.4(SLC34A1): c.1724C> T (p.Thr575Ile) single nucleotide variant Likely pathogenic rs201331677 GRCh38 Chromosome 5, 177398090: 177398090
30 SLC34A1 NM_003052.4(SLC34A1): c.1724C> T (p.Thr575Ile) single nucleotide variant Likely pathogenic rs201331677 GRCh37 Chromosome 5, 176825091: 176825091
31 GRHPR NM_012203.1(GRHPR): c.404+5G> A single nucleotide variant Likely pathogenic rs757796926 GRCh37 Chromosome 9, 37426656: 37426656
32 GRHPR NM_012203.1(GRHPR): c.404+5G> A single nucleotide variant Likely pathogenic rs757796926 GRCh38 Chromosome 9, 37426659: 37426659
33 SLC12A1 NM_000338.2(SLC12A1): c.769G> A (p.Gly257Ser) single nucleotide variant Likely pathogenic rs896545456 GRCh38 Chromosome 15, 48229233: 48229233
34 SLC12A1 NM_000338.2(SLC12A1): c.769G> A (p.Gly257Ser) single nucleotide variant Likely pathogenic rs896545456 GRCh37 Chromosome 15, 48521430: 48521430
35 SLC12A1 NM_000338.2(SLC12A1): c.1424G> A (p.Cys475Tyr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 48244876: 48244876
36 SLC12A1 NM_000338.2(SLC12A1): c.1424G> A (p.Cys475Tyr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 48537073: 48537073

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:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 APRT ATP6V1B1 GRHPR SLC12A1 SLC22A12 SLC3A1
2 basolateral plasma membrane GO:0016323 9.56 ATP6V1B1 CASR SLC26A1 SLC2A9
3 vesicle GO:0031982 9.46 SLC34A1 SLC34A3 SLC9A3R1 SPP1
4 brush border membrane GO:0031526 9.35 SLC22A12 SLC34A1 SLC34A3 SLC3A1 SLC9A3R1
5 apical plasma membrane GO:0016324 9.23 ATP6V1B1 CASR SLC12A1 SLC22A12 SLC2A9 SLC34A1
6 plasma membrane GO:0005886 10.1 CASR CLCN5 CLCNKB CLDN16 SLC12A1 SLC22A12

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.87 CLCN5 CLCNKB SLC12A1 SLC22A12 SLC26A1 SLC2A9
2 ion transmembrane transport GO:0034220 9.85 ATP6V1B1 CLCN5 CLCNKB SLC12A1
3 sodium ion transport GO:0006814 9.74 SLC12A1 SLC34A1 SLC34A3
4 proton transmembrane transport GO:1902600 9.73 ATP6V1B1 CLCN5 SLC2A9
5 ossification GO:0001503 9.71 ATP6V1B1 CASR SLC34A1
6 chloride transport GO:0006821 9.7 CLCN5 CLCNKB SLC26A1
7 ion transport GO:0006811 9.61 ATP6V1B1 CLCN5 CLCNKB CLDN16 SLC12A1 SLC22A12
8 chloride transmembrane transport GO:1902476 9.55 CASR CLCN5 CLCNKB SLC12A1 SLC26A1
9 phosphate ion transport GO:0006817 9.51 SLC34A1 SLC34A3
10 urate metabolic process GO:0046415 9.49 SLC22A12 SLC2A9
11 cellular nitrogen compound metabolic process GO:0034641 9.48 AGXT GRHPR
12 glyoxylate metabolic process GO:0046487 9.46 AGXT GRHPR
13 sodium-dependent phosphate transport GO:0044341 9.43 SLC34A1 SLC34A3
14 cellular phosphate ion homeostasis GO:0030643 9.43 SLC34A1 SLC34A3 SLC9A3R1
15 bile acid secretion GO:0032782 9.4 CASR SLC9A3R1
16 urate transport GO:0015747 9.37 SLC22A12 SLC2A9
17 excretion GO:0007588 9.02 ATP6V1B1 CLCN5 CLCNKB CLDN16 GRHPR

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

# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.54 SLC12A1 SLC34A1 SLC34A3
2 PDZ domain binding GO:0030165 9.5 SLC22A12 SLC34A1 SLC9A3R1
3 amino acid binding GO:0016597 9.4 AGXT CASR
4 voltage-gated chloride channel activity GO:0005247 9.26 CLCN5 CLCNKB
5 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A1 SLC34A3
6 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.96 SLC34A1 SLC34A3
7 urate transmembrane transporter activity GO:0015143 8.62 SLC22A12 SLC2A9

Sources for Nephrolithiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA