Aliases & Classifications for Nephrolithiasis

MalaCards integrated aliases for Nephrolithiasis:

Name: Nephrolithiasis 12 74 29 54 6 15 17 71
Kidney Stones 12 15
Stone - Kidney/ureter 12
Kidney Calculi 71

Classifications:



External Ids:

Disease Ontology 12 DOID:585
ICD9CM 34 592
SNOMED-CT 67 266556005
ICD10 32 N20
UMLS 71 C0022650 C0156257 C0392525

Summaries for Nephrolithiasis

Disease Ontology : 12 A kidney disease characterized by the formation of stoney concentrations in the kidneys.

MalaCards based summary : Nephrolithiasis, also known as kidney stones, is related to nephrolithiasis, calcium oxalate and nephrolithiasis, uric acid, 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 Mirabegron and Allopurinol have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are homeostasis/metabolism and renal/urinary system

Wikipedia : 74 Kidney stone disease, also known as nephrolithiasis or urolithiasis, is when a solid piece of material... more...

Related Diseases for Nephrolithiasis

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

(show top 50) (show all 454)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, calcium oxalate 35.2 SPP1 SLC34A1 SLC26A1 GRHPR CLCN5 CASR
2 nephrolithiasis, uric acid 35.2 ZNF365 SLC3A1 SLC2A9 SLC22A12 GRHPR CLDN16
3 nephrolithiasis/osteoporosis, hypophosphatemic, 1 35.1 SLC34A3 SLC34A1
4 hypophosphatemic nephrolithiasis/osteoporosis 34.8 SLC9A3R1 SLC34A1
5 dent disease 1 34.7 SLC34A3 SLC34A1 SLC12A1 CLCN5
6 dominant hypophosphatemia with nephrolithiasis or osteoporosis 34.5 SLC9A3R1 SLC34A1
7 hypouricemia, renal, 1 33.6 SLC2A9 SLC22A12
8 urolithiasis 33.5 SPP1 SLC3A1 SLC26A1 CASR AGXT
9 hypophosphatemic rickets, x-linked recessive 33.4 SLC34A3 SLC34A1 CLCN5
10 adenine phosphoribosyltransferase deficiency 33.3 GRHPR AGXT
11 hypercalciuria, absorptive, 2 33.3 SLC34A3 CLDN16 CLCN5 CASR
12 nephrocalcinosis 32.0 SPP1 SLC3A1 SLC34A3 SLC34A1 SLC26A1 SLC12A1
13 idiopathic hypercalciuria 31.9 SLC34A3 CLCN5 CASR
14 cystinuria 31.9 SLC3A1 GRHPR CLCN5 AGXT
15 kidney disease 31.8 SPP1 SLC9A3R1 SLC12A1 CLCN5 CASR
16 rickets 31.7 SPP1 SLC34A3 SLC34A1 CLCN5 CASR
17 hypophosphatemia 31.6 SPP1 SLC9A3R1 SLC34A3 SLC34A1 CLCN5
18 primary hyperoxaluria 31.5 SPP1 GRHPR AGXT
19 xanthinuria 31.4 SLC2A9 SLC22A12 GRHPR
20 fanconi syndrome 31.3 SLC34A3 SLC34A1 SLC22A12 CLCN5
21 bartter disease 31.3 SLC12A1 CLDN16 CLCN5 CASR
22 osteomalacia 31.2 SLC34A3 SLC34A1 CLCN5 CASR
23 hypophosphatemic rickets with hypercalciuria, hereditary 31.0 SLC34A3 SLC34A1
24 aminoaciduria 31.0 SLC3A1 SLC34A1 CLCN5
25 hereditary hypophosphatemic rickets 30.9 SLC34A3 SLC34A1
26 hyperphosphatemia 30.7 SPP1 SLC34A1 CASR
27 gitelman syndrome 30.6 SLC12A1 CLDN16 CASR
28 pulmonary alveolar microlithiasis 30.4 SLC34A3 SLC34A1
29 bartter syndrome, type 3 30.2 SLC12A1 CLDN16
30 nephrolithiasis, x-linked recessive, with renal failure 12.8
31 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.6
32 x-linked nephrolithiasis type i 12.6
33 hyperglycinuria 11.6
34 hyperparathyroidism 2 with jaw tumors 11.6
35 hyperoxaluria, primary, type ii 11.6
36 idiopathic infantile hypercalcemia 11.6
37 distal renal tubular acidosis 11.5
38 ureterolithiasis 11.5
39 hyperoxaluria, primary, type i 11.4
40 proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis 11.4
41 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4
42 urethral calculus 11.4
43 slc4a1-associated distal renal tubular acidosis 11.4
44 alkaptonuria 11.4
45 hyperparathyroidism 1 11.3
46 paget's disease of bone 11.3
47 renal tubular acidosis, distal, autosomal dominant 11.2
48 hypotonia-cystinuria syndrome 11.2
49 parathyroid carcinoma 11.2
50 hypouricemia, renal, 2 11.2

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.06 AGXT ATP6V1B1 BRCA2 CASR CLCN5 CLDN16
2 renal/urinary system MP:0005367 9.83 AGXT ATP6V1B1 CASR CLCN5 CLDN16 GRHPR
3 digestive/alimentary MP:0005381 9.8 BRCA2 CASR SLC22A12 SLC26A1 SLC2A9 SLC34A3
4 skeleton MP:0005390 9.36 ATP6V1B1 BRCA2 CASR CLCN5 SLC12A1 SLC34A1

Drugs & Therapeutics for Nephrolithiasis

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

(show top 50) (show all 311)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mirabegron Approved Phase 4 223673-61-8 9865528
2
Allopurinol Approved Phase 4 315-30-0 2094
3
Calcium carbonate Approved, Investigational Phase 4 471-34-1
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
7
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
8
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
9
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
10
Verapamil Approved Phase 4 52-53-9 2520
11
Losartan Approved Phase 4 114798-26-4 3961
12
Ceftriaxone Approved Phase 4 73384-59-5 5361919 5479530
13
Vancomycin Approved Phase 4 1404-90-6 14969 441141
14
Remifentanil Approved Phase 4 132875-61-7 60815
15
tannic acid Approved Phase 4 1401-55-4
16
Benzocaine Approved, Investigational Phase 4 94-09-7, 1994-09-7 2337
17
Scopolamine Approved, Investigational Phase 4 6533-68-2, 51-34-3 5184
18
Opium Approved, Illicit Phase 4 8008-60-4
19
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
20
Belladonna Approved, Experimental Phase 4
21
Penicillamine Approved Phase 4 52-67-5 5852 4727
22
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
23
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
24
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
25
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
26
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
27
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
28
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
29
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
30
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
31
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
32
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
33
Ondansetron Approved Phase 4 99614-02-5 4595
34
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
35
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
36
Lactitol Approved, Investigational Phase 4 585-88-6, 585-86-4 493591
37
Zoledronic Acid Approved Phase 4 118072-93-8 68740
38
leucovorin Approved Phase 4 58-05-9 6006 143
39
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
40
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
41
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
42
Sulfamethoxazole Approved Phase 4 723-46-6 5329
43
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
44
Ibuprofen Approved Phase 4 15687-27-1 3672
45
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
46
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
47
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
48
Magnesium citrate Approved Phase 4 3344-18-1
49
Silodosin Approved Phase 4 160970-54-7
50
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826

Interventional clinical trials:

(show top 50) (show all 424)
# 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 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
3 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
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 Effect of a Silicone Hydrocoated Double Loop Ureteral Stent on Symptoms and Quality of Life in Patients Undergoing F-URS for Kidney Stone; a Comparative Randomized Multicenter Clinical Study. Unknown status NCT02489656 Phase 4
6 Impact of Tranexamic Acid Use in Transfusion Rate in Patients With Complex Kidney Stone Undergoing Percutaneous Nephrolithotomy: Randomised, Double-blind, Placebo Controlled Trial Unknown status NCT02966236 Phase 4 Tranexamic Acid;Placebos
7 The Effectiveness and Safety of Naftopidil 75mg for Improving Clearance of Ureteral and Renal Stones After Shockwave Lithotripsy: Prospective Randomized Controlled Study Unknown status NCT02011737 Phase 4 naftopidil 75mg
8 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Unknown status NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
9 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
10 The Efficacy of Continuous Intravenous Ketorolac for Postoperative Pain in Percutaneous Nephrolithotomy: a Double Blinded Randomized Placebo Controlled Trial Completed NCT00765128 Phase 4 Ketorolac;Placebo
11 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
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 Potassium-sodium citrate
13 A Randomized Controlled Trial for Evaluating Protective Effects of Antioxidants (Selenium and Vitamins A, C and E), Calcium Channel Blocker (Verapamil) and Angiotensin Receptor Blocker (Losartan) Against Extracorporeal Shockwaves Lithotripsy Induced Renal Injury Completed NCT01675362 Phase 4 Antioxidant group;Calcium Channel Blockers;Angiotensin receptor blocker group;Placebo
14 The EDGE Consortium: A Randomized Trial of Preoperative Prophylactic Antibiotics Prior to Percutaneous Nephrolithotomy: Part 1 Completed NCT02384200 Phase 4 nitrofurantoin monohydrate/macrocrystalline capsules;ampicillin;gentamicin;vancomycin;ceftriaxone
15 Efficacy of Tramadol Hcl in the Treatment of Renal Colic Completed NCT00310908 Phase 4 Tramadol Hcl
16 Total Intravenous Anaesthesia Using Remifentanil In Extracorporeal Shock Wave Lithotripsy (ESWL). Comparison of Two Dosages. Completed NCT01452880 Phase 4 Remifentanil;Remifentanil
17 The Use of Belladonna and Opium (B&O) Suppository in the Treatment of Postoperative Stent Pain: A Randomized, Double-Blinded Control Study Completed NCT03332056 Phase 4 Belladonna and Opium
18 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
19 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
20 Ultrasound Guided Thoracic Paravertebral Block Completed NCT02291692 Phase 4
21 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Elective Percutaneous Nephrolithotomy Completed NCT02818140 Phase 4 Ropivacaine;Saline
22 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
23 Évaluation Multidimensionnelle de la réponse au Traitement de l'ostéoporose spontanée et Induite Par Les corticostéroïdes à l'Aide d'un Bisphosphonate à Administration Orale Chez Des Malades Porteurs d'Une Dystrophie Musculaire sévère. Completed NCT01882400 Phase 4 Bisphosphonate treatment
24 Effect of Low Doses of Vitamin C on Salivary Cortisol , Heart Rate , Blood Pressure During Group Presentation Completed NCT04135378 Phase 4 ascorbic acid
25 Therapeutic Merit of Solifenacin in the Mitigation of Ureteral Stent-induced Pain and Lower Urinary Tract Symptoms (LUTS) Post Ureteroscopy for Stone Management Completed NCT01381120 Phase 4 Solifenacin succinate treatment;Oxycodone and acetaminophen combination treatment
26 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Completed NCT02125721 Phase 4 CBTD 0-3 gm
27 A Double Blind, Multi-arm Randomized Control Trial, for Efficacy of Intramuscular Diclofenac Versus Intravenous Morphine Versus Intravenous Paracetamol, in Renal Colic Emergency Department Pain Management Completed NCT02187614 Phase 4 Diclofenac;Morphine;Paracetamol;Placebos
28 Comparative Evaluation of General Anesthesia (SEA) Using 0.5% Bupivacaine and Segmental Epidural Anesthesia (GA) for Percutaneous Nephro Lithotomy - A Retrospective Analysis Completed NCT02878512 Phase 4
29 The Treatment of Acute Schizophrenia With High Dose Niacinmide Plus Ascorbate Plus Pyridoxine Plus Centrum Forte vs. Centrum Forte Only as an Add-On to Risperidone and Dietary Counseling Completed NCT00140166 Phase 4 niacinamide;pyridoxine;ascorbate
30 The Efficacy of Zoledronic Acid in the Prevention of Bone Loss in Acute Spinal Cord Injury Completed NCT02042872 Phase 4 Zoledronic acid
31 A Prospective Randomized Trial of 2 Weeks vs 3 Months of Antibiotics Post Percutaneous Nephrolithotomy for the Prevention of Infection-Related Kidney Stones Recruiting NCT02375295 Phase 4 ciprofloxacin, cotrimoxazole-trimethoprim, macrodantin
32 Study of Ketorolac Versus Opioid for Pain After Endoscopy (SKOPE): A Double-blinded Randomized Control Trial Comparing Outpatient Analgesic Efficacy of NSAIDs and Opioids in Patients Undergoing Ureteroscopy for Kidney Stones Recruiting NCT03888144 Phase 4 Oxycodone;Ketorolac
33 Prospective Evaluation of Oral Alkalinization by Urologists and Nephrologists: Evolution of the Extracellular Compartment Recruiting NCT03035812 Phase 4 Alkali
34 A Multicenter Randomized Controlled Trial Assessing the Efficacy of Antimicrobial Prophylaxis for Extracorporeal Shock Wave Lithotripsy on Reducing Urinary Tract Infection Recruiting NCT03692715 Phase 4 Ciprofloxacin;Placebo
35 A Prospective Double Blind Randomized Control Trial Comparing Opioid to Non-Opioid Protocol in Managing Postoperative Pain After Ureteroscopy With Stent Placement Active, not recruiting NCT03872843 Phase 4 Norco 5milligram-325milligram Tablet;Ibuprofen 400 MILLIGRAM in 1 TABLET ORAL TABLET, FILM COATED
36 Pathogenesis of Uric Acid Nephrolithiasis: Role of Pioglitazone/Weight Loss Active, not recruiting NCT04370093 Phase 4 Pioglitazone 45 mg
37 Medication Facilitated Ureteral Access Sheath Deployment During Ureteroscopy and Endoscopic-Guided Percutaneous Nephrolithotomy: A Randomized Double-Blind Placebo Controlled Trial of Tadalafil, Tamsulosin and Combination Enrolling by invitation NCT03229889 Phase 4 Cialis 5Mg Tablet;Flomax 0.4Mg Capsule;Placebo
38 The Effect of Daily Versus Twice Per Day Tamsulosin on Ureteral Stent Symptoms Following Ureteroscopy for Nephrolithiasis Enrolling by invitation NCT03799120 Phase 4 Tamsulosin BID
39 Effectiveness of Prescription vs. Non-prescription Urinary Alkalinizing Agents on Kidney Stone Risk Suspended NCT04095975 Phase 4 Urocit K
40 Evaluating Post-operative Pain Management Efficacy of Intra Nasal Ketorolac in Ambulatory Urological Surgeries-A Randomized Double-blinded Placebo Controlled Study Terminated NCT01736358 Phase 4 Intranasal Ketoralac;Placebo
41 Comparison of Silodosin vs. Tamsulosin on Spontaneous Passage of Acutely Obstructing Ureteral Calculi in Medical Expulsive Therapy Terminated NCT02369744 Phase 4 Silodosin;Tamsulosin
42 Randomized Comparison of Two Pre-induction Analgesia Regimens: Multimodal vs Acetaminophen in the Reduction of Post-operative Pain Following Ureteroscopy With Lithotripsy for Kidney Stones Evaluated With Text Messaging Withdrawn NCT03549611 Phase 4 Multimodal Oral Drug Regimen;Acetaminophen
43 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney (Renal Pelvis) Unknown status NCT00959153 Phase 3
44 Effect of Tamsulosin and Nifedipine on the Elimination of Fragments After Extracorporeal Shock Waves Lithotripsy in Patients With Kidney Stones - a Prospective, Double-blind and Randomized Study Unknown status NCT01215708 Phase 3 Tamsulosin
45 Evaluation of Alfuzosin as Medical Expulsion Therapy for Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
46 ACTHAR GEL for Sarcoidosis-Associated Calcium Dysregulation: An Open-label Pilot Study Unknown status NCT02155803 Phase 2, Phase 3 ACTHAR Gel (adrenocorticotropic hormone)
47 Alfuzosin Hydrochloride to Promote Passage of Distal Ureteral Calculi Completed NCT00177086 Phase 3
48 Visceral Pain Originating From the Upper Urinary Tract - a Randomized Controlled Trial on the Effect of Morphine and Oxycodone in Patients Undergoing Percutaneous Nephrolithotomy (PCNL) Completed NCT00784472 Phase 3 oxycodone;morphine
49 Pharmacological Modulation of the Intrarenal Pressure During Endourological Procedures in the Upper Urinary Tract Completed NCT00428428 Phase 2, Phase 3 Isoproterenol
50 Phase III Randomized, Double-Blind Study of Potassium Phosphate Vs Potassium Citrate for Absorptive Hypercalciuria Completed NCT00004284 Phase 3 potassium citrate;potassium phosphate

Search NIH Clinical Center for 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:

40
Kidney, Bone, Testes, Spinal Cord, Liver, Colon, Heart

Publications for Nephrolithiasis

Articles related to Nephrolithiasis:

(show top 50) (show all 8377)
# Title Authors PMID Year
1
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. 61 54
20064951 2010
2
Genetic causes of hypercalciuric nephrolithiasis. 61 54
18446382 2009
3
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase. 54 61
19565499 2009
4
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. 54 61
19546591 2009
5
Update on primary hypercalciuria from a genetic perspective. 61 54
18343451 2008
6
Post-translational modification and proteolytic processing of urinary osteopontin. 61 54
18072945 2008
7
Preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults. 61 54
18025797 2008
8
Genetics of hypercalciuric nephrolithiasis: renal stone disease. 54 61
17872384 2007
9
Association of osteopontin gene haplotypes with nephrolithiasis. 61 54
17519954 2007
10
Tamm-Horsfall protein in recurrent calcium kidney stone formers with positive family history: abnormalities in urinary excretion, molecular structure and function. 54 61
17345077 2007
11
Randall's plaque, calcium-sensing receptor, and idiopathic calcium nephrolithiasis. 54 61
17167508 2007
12
Hypercalciuria in patients with CLCN5 mutations. 54 61
16807762 2006
13
VDR gene and urinary calcium excretion in nephrolithiasis. 61 54
16518358 2006
14
Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak. 54 61
16352682 2006
15
ClC-5: a chloride channel with multiple roles in renal tubular albumin uptake. 61 54
16226913 2006
16
Partial HPRT deficiency (Kelley-Seegmiller syndrome). 54 61
16649740 2006
17
An unusual patient with hypercalciuria, recurrent nephrolithiasis, hypomagnesemia and G227R mutation of Paracellin-1. An unusual patient with hypercalciuria and hypomagnesemia unresponsive to thiazide diuretics. 61 54
16804318 2006
18
N-Glycans carried by Tamm-Horsfall glycoprotein have a crucial role in the defense against urinary tract diseases. 54 61
16622944 2005
19
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 54 61
15895257 2005
20
Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis. 61 54
15856322 2005
21
Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. 61 54
15637424 2005
22
Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization. 54 61
15483460 2004
23
The relationship of 3' vitamin D receptor haplotypes to urinary supersaturation of calcium oxalate salts and to age at onset and familial prevalence of nephrolithiasis. 54 61
15213319 2004
24
Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation. 61 54
15327412 2004
25
A form of Jansen's metaphyseal chondrodysplasia with limited metabolic and skeletal abnormalities is caused by a novel activating parathyroid hormone (PTH)/PTH-related peptide receptor mutation. 61 54
15240651 2004
26
Three-dimensional structure of human adenine phosphoribosyltransferase and its relation to DHA-urolithiasis. 61 54
15196008 2004
27
Association of vitamin D receptor genotypes with calcium excretion in nephrolithiatic subjects in northern India. 61 54
15205858 2004
28
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1. 54 61
15365967 2004
29
Evidence for genetic heterogeneity in Dent's disease. 54 61
15086899 2004
30
The biochemical basis of the neurobehavioral abnormalities in the Lesch-Nyhan syndrome: a hypothesis. 54 61
15193365 2004
31
Identification of a novel splice site mutation of CLCN5 gene and characterization of a new alternative 5' UTR end of ClC-5 mRNA in human renal tissue and leukocytes. 61 54
14673707 2004
32
[Dent's disease: hereditary nephrolithiasis related to defective tubular endocytosis processes]. 54 61
14732909 2003
33
Mutational analysis of the xanthine dehydrogenase gene in a Turkish family with autosomal recessive classical xanthinuria. 61 54
14551354 2003
34
Polymorphisms in the vitamin D receptor gene and the risk of calcium nephrolithiasis in children. 54 61
12814692 2003
35
Chemical diagnosis of Lesch-Nyhan syndrome using gas chromatography-mass spectrometry detection. 61 54
12829005 2003
36
Idiopathic external root resorption associated to hypercalciuria. 61 54
11984501 2002
37
Induction of alpha-catenin, integrin alpha3, integrin beta6, and PDGF-B by 2,8-dihydroxyadenine crystals in cultured kidney epithelial cells. 54 61
12381921 2002
38
Detection of AGXT bgene mutations by denaturing high-performance liquid chromatography for diagnosis of hyperoxaluria type 1. 54 61
11699734 2001
39
A new approach to mRNA in proximal tubule cells of patients with CLCN5 channelopathy. 54 61
11261675 2001
40
Mice lacking renal chloride channel, CLC-5, are a model for Dent's disease, a nephrolithiasis disorder associated with defective receptor-mediated endocytosis. 54 61
11115837 2000
41
[Phenotypical manifestations of cystinuria: a study of 20 families in the Community of Valencia]. 61 54
11141402 2000
42
Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome. 54 61
11014932 2000
43
Clinical and genetic studies of CLCN5 mutations in Japanese families with Dent's disease. 54 61
10916075 2000
44
Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. 54 61
10886547 2000
45
The molecular basis of cystinuria: an update. 61 54
10810228 2000
46
Pathogenesis of Dent's disease and related syndromes of X-linked nephrolithiasis. 61 54
10720930 2000
47
Isolated hypercalciuria with mutation in CLCN5: relevance to idiopathic hypercalciuria. 61 54
10620204 2000
48
[Primary hyperparathyroidism]. 54 61
11117107 2000
49
Characterization of novel promoter and enhancer elements of the mouse homologue of the Dent disease gene, CLCN5, implicated in X-linked hereditary nephrolithiasis. 61 54
10373326 1999
50
Suggestive evidence for a susceptibility gene near the vitamin D receptor locus in idiopathic calcium stone formation. 61 54
10232686 1999

Variations for Nephrolithiasis

ClinVar genetic disease variations for Nephrolithiasis:

6 (show all 20) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GRHPR NM_012203.2(GRHPR):c.103del (p.Asp35fs)deletion Pathogenic 5636 rs80356708 9:37424859-37424859 9:37424862-37424862
2 AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)SNV Pathogenic 5646 rs121908525 2:241814576-241814576 2:240875159-240875159
3 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs)deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291
4 AGXT NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)SNV Pathogenic 204105 rs180177227 2:241810823-241810823 2:240871406-240871406
5 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
6 SLC34A1 NM_003052.5(SLC34A1):c.644+1G>ASNV Pathogenic/Likely pathogenic 234926 rs201304511 5:176814875-176814875 5:177387874-177387874
7 SLC12A1 NM_000338.3(SLC12A1):c.1163del (p.Phe388fs)deletion Pathogenic/Likely pathogenic 265999 rs779588655 15:48527143-48527143 15:48234946-48234946
8 CLDN16 NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys)SNV Pathogenic/Likely pathogenic 5931 rs104893726 3:190126205-190126205 3:190408416-190408416
9 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)SNV Pathogenic/Likely pathogenic 12228 rs121964880 2:71185243-71185243 2:70958113-70958113
10 AGXT NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)SNV Pathogenic/Likely pathogenic 5644 rs121908523 2:241808403-241808403 2:240868986-240868986
11 CLDN19 NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)SNV Likely pathogenic 548672 rs145591298 1:43201640-43201640 1:42735969-42735969
12 AGXT NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)SNV Likely pathogenic 548671 rs180177161 2:241818138-241818138 2:240878721-240878721
13 SLC3A1 NM_000341.4(SLC3A1):c.592del (p.Ala198fs)deletion Likely pathogenic 548674 rs778000327 2:44508016-44508016 2:44280877-44280877
14 SLC34A1 NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)SNV Likely pathogenic 548678 rs376131751 5:176823763-176823763 5:177396762-177396762
15 SLC34A1 NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)SNV Likely pathogenic 548679 rs201331677 5:176825091-176825091 5:177398090-177398090
16 GRHPR NM_012203.2(GRHPR):c.404+5G>ASNV Likely pathogenic 548673 rs757796926 9:37426656-37426656 9:37426659-37426659
17 SLC12A1 NM_000338.3(SLC12A1):c.769G>A (p.Gly257Ser)SNV Likely pathogenic 548675 rs896545456 15:48521430-48521430 15:48229233-48229233
18 SLC12A1 NM_000338.3(SLC12A1):c.1424G>A (p.Cys475Tyr)SNV Likely pathogenic 548676 rs1555466999 15:48537073-48537073 15:48244876-48244876
19 MT-CO3 NC_012920.1:m.9355A>TSNV Uncertain significance 523307 rs1556423663 MT:9355-9355 MT:9355-9355
20 SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys)SNV Likely benign 5272 rs119486097 17:72759575-72759575 17:74763436-74763436

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 cell GO:0005623 9.76 SLC9A3R1 SLC34A3 SLC34A1 SLC22A12 SLC12A1 CLDN16
2 basolateral plasma membrane GO:0016323 9.62 SLC2A9 SLC26A1 CASR ATP6V1B1
3 vesicle GO:0031982 9.56 SPP1 SLC9A3R1 SLC34A3 SLC34A1
4 brush border membrane GO:0031526 9.35 SLC9A3R1 SLC3A1 SLC34A3 SLC34A1 SLC22A12
5 apical plasma membrane GO:0016324 9.23 SLC9A3R1 SLC34A3 SLC34A1 SLC2A9 SLC22A12 SLC12A1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.91 SLC34A3 SLC2A9 SLC26A1 SLC22A12 SLC12A1 CLCN5
2 sodium ion transport GO:0006814 9.75 SLC34A3 SLC34A1 SLC12A1
3 proton transmembrane transport GO:1902600 9.74 SLC2A9 CLCN5 ATP6V1B1
4 ossification GO:0001503 9.67 SPP1 SLC34A1 CASR ATP6V1B1
5 potassium ion homeostasis GO:0055075 9.56 SLC12A1 ATP6V1B1
6 chloride transmembrane transport GO:1902476 9.56 SLC26A1 SLC12A1 CLCN5 CASR
7 ion transport GO:0006811 9.56 SLC34A3 SLC34A1 SLC26A1 SLC22A12 SLC12A1 CLDN16
8 chloride ion homeostasis GO:0055064 9.55 SLC12A1 ATP6V1B1
9 phosphate ion transport GO:0006817 9.54 SLC34A3 SLC34A1
10 urate metabolic process GO:0046415 9.52 SLC2A9 SLC22A12
11 cellular nitrogen compound metabolic process GO:0034641 9.51 GRHPR AGXT
12 glyoxylate metabolic process GO:0046487 9.49 GRHPR AGXT
13 bile acid secretion GO:0032782 9.48 SLC9A3R1 CASR
14 urate transport GO:0015747 9.46 SLC2A9 SLC22A12
15 sodium-dependent phosphate transport GO:0044341 9.4 SLC34A3 SLC34A1
16 cellular phosphate ion homeostasis GO:0030643 9.33 SLC9A3R1 SLC34A3 SLC34A1
17 renal sodium ion transport GO:0003096 9.32 SLC9A3R1 ATP6V1B1
18 excretion GO:0007588 8.92 GRHPR CLDN16 CLCN5 ATP6V1B1

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.71 SLC9A3R1 SLC3A1 SLC34A1 ATP6V1B1
2 symporter activity GO:0015293 9.5 SLC34A3 SLC34A1 SLC12A1
3 PDZ domain binding GO:0030165 9.43 SLC9A3R1 SLC34A1 SLC22A12
4 amino acid binding GO:0016597 9.37 CASR AGXT
5 sodium:phosphate symporter activity GO:0005436 9.16 SLC34A3 SLC34A1
6 urate transmembrane transporter activity GO:0015143 8.96 SLC2A9 SLC22A12
7 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1

Sources for Nephrolithiasis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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