Aliases & Classifications for Nephrolithiasis

MalaCards integrated aliases for Nephrolithiasis:

Name: Nephrolithiasis 37 12 72 28 51 14 69
Nephrolithiasis, Calcium Oxalate 12
Urolithiasis, Calcium Oxalate 12
Calculus of Kidney and Ureter 12
Stone - Kidney/ureter 12
Kidney Calculi 69
Kidney Stones 12

Classifications:



External Ids:

Disease Ontology 12 DOID:585
ICD10 32 N20 N20.2
ICD9CM 34 592

Summaries for Nephrolithiasis

MalaCards based summary : Nephrolithiasis, also known as nephrolithiasis, calcium oxalate, is related to dominant hypophosphatemia with nephrolithiasis or osteoporosis and hypouricemia, renal, 1, 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 Menthol and Tamsulosin 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 related to Nephrolithiasis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 dominant hypophosphatemia with nephrolithiasis or osteoporosis 33.5 SLC34A1 SLC9A3R1
2 hypouricemia, renal, 1 32.3 SLC22A12 SLC2A9
3 dent disease 1 32.1 CLCN5 CLCNKB CLDN16 SLC34A3
4 hypophosphatemic rickets, x-linked recessive 31.9 CLCN5 SLC34A1 SLC34A3
5 acute urate nephropathy 31.8 SLC22A12 ZNF365
6 adenine phosphoribosyltransferase deficiency 31.8 APRT CLDN16
7 hypercalciuria, absorptive, 2 31.4 CASR CLCN5 CLDN16 SLC34A3
8 nephrolithiasis, calcium oxalate 31.2 AGXT APRT CASR CLCN5 GRHPR SLC26A1
9 hypophosphatemia 30.0 CLCN5 SLC34A1 SLC34A3
10 idiopathic hypercalciuria 29.9 CASR CLCN5 SLC34A3
11 rickets 29.8 CLCN5 SLC34A1 SLC34A3
12 hereditary hypophosphatemic rickets 29.8 SLC34A1 SLC34A3
13 hyperuricemia 29.7 SLC22A12 SLC2A9 UMOD
14 pulmonary alveolar microlithiasis 29.6 SLC34A1 SLC34A3
15 primary hyperoxaluria 29.5 AGXT GRHPR
16 gout 29.2 APRT SLC22A12 SLC2A9 UMOD
17 hypophosphatemic rickets with hypercalciuria, hereditary 29.2 CLDN16 SLC34A1 SLC34A3
18 chronic kidney failure 29.2 AGXT CASR CLDN16 UMOD
19 nephrocalcinosis 29.0 AGXT CLCN5 CLCNKB CLDN16 GRHPR SLC34A1
20 osteoporosis 28.9 CASR SLC34A1 SLC9A3R1 SPP1
21 bartter disease 28.7 CASR CLCN5 CLCNKB UMOD
22 xanthinuria 28.7 APRT CLDN16 SLC22A12 SLC2A9
23 nephrolithiasis, x-linked recessive, with renal failure 12.4
24 nephrolithiasis, uric acid 12.4
25 nephrolithiasis/osteoporosis, hypophosphatemic, 1 12.2
26 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.2
27 hyperglycinuria 11.3
28 renal tubular acidosis, distal 11.1
29 renal tubular acidosis, distal, autosomal dominant 10.9
30 hypotonia-cystinuria syndrome 10.9
31 renal tubular acidosis, distal, with hemolytic anemia 10.9
32 hypouricemia, renal, 2 10.9
33 urolithiasis, uric acid, autosomal dominant 10.9
34 dent disease 2 10.9
35 polycystic kidney disease 1 10.8
36 hyperoxaluria, primary, type i 10.8
37 hyperoxaluria, primary, type ii 10.8
38 renal tubular acidosis, distal, with progressive nerve deafness 10.8
39 renal tubular acidosis, distal, autosomal recessive 10.8
40 parathyroid carcinoma 10.8
41 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 10.8
42 slc4a1-associated distal renal tubular acidosis 10.8
43 aminoaciduria 10.3 CLCN5 SLC34A1 SLC3A1
44 hypophosphatemic rickets, x-linked dominant 10.1 SLC34A1 SLC34A3
45 kidney disease 10.1
46 hyperuricemic nephropathy, familial juvenile, 1 10.1 SLC22A12 UMOD
47 body mass index quantitative trait locus 11 10.1
48 body mass index quantitative trait locus 9 10.1
49 body mass index quantitative trait locus 8 10.1
50 body mass index quantitative trait locus 4 10.1

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:

43
# 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 SLC22A12 SLC2A9 SLC34A1 SLC34A3 SLC3A1 SPP1
3 renal/urinary system MP:0005367 9.86 AGXT APRT CASR CLCN5 CLCNKB CLDN16
4 digestive/alimentary MP:0005381 9.85 CASR SLC22A12 SLC26A1 SLC2A9 SLC34A3 SLC9A3R1
5 immune system MP:0005387 9.81 UMOD ZNF365 SLC3A1 SPP1 APRT CASR
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 314)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Menthol Approved Phase 4 2216-51-5 16666
2
Tamsulosin Approved, Investigational Phase 4,Phase 3 106133-20-4 129211
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
5
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
6
Loperamide Approved Phase 4 53179-11-6 3955
7
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2 57-27-2 5288826
8
Opium Approved, Illicit Phase 4 8008-60-4
9
Ketorolac Approved Phase 4,Phase 2 74103-06-3, 66635-83-4 3826
10
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198 65143
11
Losartan Approved Phase 4 114798-26-4 3961
12
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
13
Verapamil Approved Phase 4 52-53-9 2520
14
Acetaminophen Approved Phase 4,Phase 3,Phase 2 103-90-2 1983
15
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
16
Remifentanil Approved Phase 4 132875-61-7 60815
17
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
18
Bupivacaine Approved, Investigational Phase 4,Phase 3 38396-39-3, 2180-92-9 2474
19
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
20
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
21
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
22
Ondansetron Approved Phase 4 99614-02-5 4595
23
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
24
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
25
Ranitidine Approved Phase 4 66357-59-3, 66357-35-5 3001055
26
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
27
Oxycodone Approved, Illicit, Investigational Phase 4,Phase 3 76-42-6 5284603
28
Allopurinol Approved Phase 4,Phase 2 315-30-0 2094
29
Potassium Citrate Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2
30
Silodosin Approved Phase 4,Phase 3,Phase 2 160970-54-7
31
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
32
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
33
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
34
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
35
Sulfamethoxazole Approved Phase 4 723-46-6 5329
36
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
37
Tranexamic Acid Approved Phase 4 1197-18-8 5526
38 Mirabegron Approved Phase 4 223673-61-8
39
Lesinurad Approved, Investigational Phase 4 878672-00-5 53465279
40
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
41
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
42
Vancomycin Approved Phase 4 1404-90-6 14969 441141
43
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
44
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
45
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 67-97-0 10883523 5280795 6221
46
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 3,Phase 2 50-14-6 5280793
47
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 1406-16-2
48
Citric Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 3,Phase 2 77-92-9 311
49
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
50 tannic acid Approved, Nutraceutical Phase 4

Interventional clinical trials:

(show top 50) (show all 300)

# 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 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 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 VITamine D Supplementation in RenAL Transplant Recipients - VITALE Completed NCT01431430 Phase 4 Cholecalciferol 100 000 UI;Cholecalciferol 12 000 UI
24 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Recruiting NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
25 Struvite Stones Antibiotic Study Recruiting NCT02375295 Phase 4 ciprofloxacin, cotrimoxazole-trimethoprim, macrodantin
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 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
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 The Use of Intranasal Ketoralac for Pain Management Terminated NCT01736358 Phase 4 Intranasal Ketoralac;Placebo
37 Effects of the Use of Adjuvant Drugs After Extracorporeal Shockwave Lithotripsy (ESWL) in Renal Calculus Unknown status NCT01215708 Phase 3 Tamsulosin
38 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney Unknown status NCT00959153 Phase 3
39 Alfuzosin for Medical Expulsion Therapy of Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
40 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
41 Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
42 Low Salt Diet in Idiopathic Hypercalciuria Completed NCT01005082 Phase 2, Phase 3
43 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
44 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3 Isoproterenol
45 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate
46 Alfuzosin Hydrochloride to Promote Passage of Distal Ureteral Calculi Completed NCT00177086 Phase 3
47 The StoneBreakerTM Trial Completed NCT00677196 Phase 3
48 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
49 Effects of PTH Replacement on Bone in Hypoparathyroidism Completed NCT00395538 Phase 3 PTH 1-34
50 Phase 2/3 Oxabact Study Completed NCT01037231 Phase 2, Phase 3 Placebo

Search NIH Clinical Center for Nephrolithiasis

Genetic Tests for Nephrolithiasis

Genetic tests related to Nephrolithiasis:

# Genetic test Affiliating Genes
1 Nephrolithiasis 28

Anatomical Context for Nephrolithiasis

MalaCards organs/tissues related to Nephrolithiasis:

38
Kidney, Bone, Testes, Prostate, Liver, Colon, Heart
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 Potential therapeutic candidate, affected by disease

Publications for Nephrolithiasis

Articles related to Nephrolithiasis:

(show top 50) (show all 768)
# Title Authors Year
1
Stones: Individual gut microbiome in nephrolithiasis. ( 29434367 )
2018
2
The clinical efficacy of dual lumen catheter technique in retrograde intrarenal surgery for the management of nephrolithiasis: a propensity score analysis. ( 29316803 )
2018
3
Study of Urine Composition of Patients With Recurrent Nephrolithiasis in Lorestan, Iran. ( 29421773 )
2018
4
Current opinions on nephrolithiasis associated with primary hyperparathyroidism. ( 29350243 )
2018
5
The accuracy and prognostic value of point-of-care ultrasound for nephrolithiasis in the emergency department: A Systematic Review and Meta-Analysis. ( 29427476 )
2018
6
Inflammatory Cytokines in the Papillary Tips and Urine of Nephrolithiasis Patients. ( 29338314 )
2018
7
Effect of Polygonum Aviculare L. on Nephrolithiasis Induced by Ethylene Glycol and Ammonium Chloride in Rats. ( 29256188 )
2017
8
Co-Occurrence of Asthma and Nephrolithiasis in Children. ( 28081237 )
2017
9
Epidemiology and economics of nephrolithiasis. ( 28868500 )
2017
10
Urolithiasis and nephrolithiasis. ( 28858017 )
2017
11
Marked increase in urinary excretion of apolipoproteins in children with nephrolithiasis associated with hypercalciuria. ( 28188435 )
2017
12
Antiurolithiatic and antioxidant efficacy of Musa paradisiaca pseudostem on ethylene glycol-induced nephrolithiasis in rat. ( 28458427 )
2017
13
Nephrolithiasis associated with the use of topiramate in children. ( 29226837 )
2017
14
Clinical predictors of an abnormal ultrasound in patients presenting with suspected nephrolithiasis. ( 28811768 )
2017
15
Infant nephrolithiasis and nephrocalcinosis: Natural history and predictors of surgical intervention. ( 28729176 )
2017
16
Glutathione Peroxidase 1 Gene Polymorphism in Nephrolithiasis Patients From South of Iran. ( 28174350 )
2017
17
Re: Mucin-1 Increases Renal TRPV5 Activity In Vitro, and Urinary Level Associates with Calcium Nephrolithiasis in Patients. ( 28618678 )
2017
18
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis andA nephrocalcinosis. ( 28893421 )
2017
19
Metabolic investigation in patients with nephrolithiasis. ( 29267427 )
2017
20
Inhibitory effect of an aqueous extract of Radix Paeoniae Alba on calcium oxalate nephrolithiasis in a rat model. ( 28085537 )
2017
21
Development of Nephrolithiasis in Asymptomatic Hyperuricemia: A Cohort Study. ( 28410765 )
2017
22
Association between nephrolithiasis and fatty liver detected on non-enhanced CT for clinically suspected renal colic. ( 28324714 )
2017
23
Determination of alpha-2-MRAP gene polymorphisms in nephrolithiasis patients. ( 28760704 )
2017
24
Re: Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis. ( 28505913 )
2017
25
Nephrolithiasis: A complication of pediatric diabetic ketoacidosis. ( 28737266 )
2017
26
Lifetime Radiation Exposure in Patients with Recurrent Nephrolithiasis. ( 28900827 )
2017
27
Re: Multiple Sclerosis and Nephrolithiasis: A Matched-Case Comparative Study. ( 29370644 )
2017
28
Ultralow Radiation Exposure During Flexible Ureteroscopy in Patients With Nephrolithiasis-How Far Can We Go? ( 28648966 )
2017
29
Sodium chloride pica causing recurrent nephrolithiasis in a patient with iron deficiency anemia: a case report. ( 29149910 )
2017
30
Nephrolithiasis and risk of hypertension: a meta-analysis of observational studies. ( 29187160 )
2017
31
Determinants of calcium and oxalate excretion in subjects with calcium nephrolithiasis: the role of metabolic syndrome traits. ( 29090382 )
2017
32
Predictive value of preoperative inflammatory response biomarkers for metabolic syndrome and post-PCNL systemic inflammatory response syndrome in patients with nephrolithiasis. ( 29156745 )
2017
33
Postmenopausal hormone and the risk of nephrolithiasis: A meta-analysis. ( 28900379 )
2017
34
The molecular mechanisms of androgen receptor in nephrolithiasis. ( 28336462 )
2017
35
Adherence to the Mediterranean Dietary Pattern and Incidence of Nephrolithiasis in the Seguimiento Universidad de Navarra Follow-up (SUN) Cohort. ( 28838765 )
2017
36
Multiple sclerosis and nephrolithiasis: a matched-case comparative study. ( 28220601 )
2017
37
A 10-Year Retrospective Review of Nephrolithiasis in the Navy and Navy Pilots. ( 28235550 )
2017
38
Transcriptional study of hyperoxaluria and calcium oxalate nephrolithiasis in male rats: Inflammatory changes are mainly associated with crystal deposition. ( 29091707 )
2017
39
Pseudomonas aeruginosa as an Etiologic Agent of Nephrolithiasis in Deep Water Divers. ( 28164160 )
2017
40
Hounsfield Units for nephrolithiasis: predictive power for the clinical urologist. ( 28646939 )
2017
41
Response to: A role for thiazide diuretic therapy in preventing bone loss, fracture and nephrolithiasis in individuals with thalassemia and hypercalciuria? ( 28194475 )
2017
42
The Relationship Between Nephrolithiasis Risk with Body Fat Measured by Body Composition Analyzer in Obese People. ( 28883679 )
2017
43
The genetic framework for development of nephrolithiasis. ( 29264202 )
2017
44
Metabolic syndrome contributes to renal injury mediated by hyperoxaluria in a murine model of nephrolithiasis. ( 28405703 )
2017
45
PDE1A polymorphism contributes to the susceptibility of nephrolithiasis. ( 29262781 )
2017
46
Etiopathogenesis of Nephrolithiasis in Ulcerative Colitis Patients with the Ileal Pouch Anal Anastomosis. ( 28301430 )
2017
47
Nephrolithiasis and Osteomalacia associated with adefovir-induced Fanconi syndrome in a patient with hepatitis B. ( 28851305 )
2017
48
Non-alcoholic fatty liver disease and the development of nephrolithiasis: A cohort study. ( 29073130 )
2017
49
Refining Diagnostic Approaches in Nephrolithiasis: Incomplete Distal Renal Tubular Acidosis. ( 28775128 )
2017
50
Integrative Analysis of miRNA and mRNA Expression Profiles in Calcium Oxalate Nephrolithiasis Rat Model. ( 29392139 )
2017

Variations for Nephrolithiasis

ClinVar genetic disease variations for Nephrolithiasis:

6
# 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:

# 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 15)
# 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 9.69 CLCN5 CLCNKB SLC26A1
5 chloride transport GO:0006821 9.63 CLCN5 CLCNKB SLC26A1
6 cellular nitrogen compound metabolic process GO:0034641 9.55 AGXT GRHPR
7 phosphate ion transmembrane transport GO:0035435 9.54 SLC34A1 SLC34A3
8 regulation of anion transmembrane transport GO:1903959 9.52 CLCN5 CLCNKB
9 urate transport GO:0015747 9.49 SLC22A12 SLC2A9
10 organic acid transmembrane transport GO:1903825 9.48 SLC22A12 SLC2A9
11 urate metabolic process GO:0046415 9.43 SLC22A12 SLC2A9
12 phosphate ion transport GO:0006817 9.4 SLC34A1 SLC34A3
13 sodium-dependent phosphate transport GO:0044341 9.37 SLC34A1 SLC34A3
14 cellular phosphate ion homeostasis GO:0030643 9.13 SLC34A1 SLC34A3 SLC9A3R1
15 excretion GO:0007588 9.02 CLCN5 CLCNKB CLDN16 GRHPR UMOD

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

# 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 9.5 SLC22A12 SLC34A1 SLC9A3R1
3 amino acid binding GO:0016597 9.4 AGXT CASR
4 voltage-gated chloride channel activity GO:0005247 9.37 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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