CAON
MCID: NPH091
MIFTS: 63

Nephrolithiasis, Calcium Oxalate (CAON)

Categories: Blood diseases, Genetic diseases, Nephrological diseases
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Aliases & Classifications for Nephrolithiasis, Calcium Oxalate

MalaCards integrated aliases for Nephrolithiasis, Calcium Oxalate:

Name: Nephrolithiasis, Calcium Oxalate 57 73 38 71
Kidney Stones 57 42 73 41 63
Calcium Oxalate Urolithiasis 73 5 16
Calculus of Kidney 42 31 33
Nephrolithiasis 42 71 33
Kidney Calculi 42 71 33
Renal Calculi 42 75 33
Calcium Oxalate Nephrolithiasis 11 14
Urolithiasis, Calcium Oxalate 57 73
Renal Calculus 42 33
Urinary Stones 42 53
Kidney Stone 42 33
Renal Stone 53 33
Nephrolith 42 33
Caon 57 73
Multiple Kidney Calculus 33
Renal Calculus or Stone 33
Multiple Kidney Calculi 33
Pelvic Nephrolithiasis 33
Pelvis Nephrolithiasis 33
Kidney Stone Disease 75
Nephrolithiasis Nos 33
Nephritic Calculus 33
Calculus, Kidney 42
Calculus, Renal 42
Renal Lithiasis 42
Stone in Kidney 33
Pelviolithiasis 33
Urolithiasis 42
Renal Stones 42

Characteristics:


Inheritance:

Autosomal recessive 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood
one patient has been reported (last curated june 2016)


Classifications:



External Ids:

Disease Ontology 11 DOID:0080652
OMIM® 57 167030
MeSH 43 D053040
ICD10 31 N20.0 N20.2
MedGen 40 C1833683
UMLS 71 C0022650 C0392525 C1833683

Summaries for Nephrolithiasis, Calcium Oxalate

MedlinePlus Genetics: 42 Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color. To be cleared from the body (or "passed"), the stones need to travel through ducts that carry urine from the kidneys to the bladder (ureters) and be excreted. Depending on their size, kidney stones generally take days to weeks to pass out of the body.Kidney stones can cause abdominal or back pain (known as renal colic). Renal colic usually begins sporadically but then becomes constant and can lead to nausea and vomiting. The site of pain can change as the stone moves through the urinary tract. Some small stones pass through the kidney and urinary tract with little discomfort, while larger ones can block the flow of urine and impair kidney function. Kidney stones can also result in blood in the urine (hematuria) or kidney or urinary tract infections. Unusually large stones or stones that are difficult to pass can be medically removed.Although there are many types of kidney stones, four main types are classified by the material they are made of. Up to 75 percent of all kidney stones are composed primarily of calcium. Stones can also be made up of uric acid (a normal waste product), cystine (a protein building block), or struvite (a phosphate mineral). Stones form when there is more of the compound in the urine than can be dissolved. This imbalance can occur when there is an increased amount of the material in the urine, a reduced amount of liquid urine, or a combination of both.People are most likely to develop kidney stones between ages 40 and 60, though the stones can appear at any age. Research shows that 35 to 50 percent of people who have one kidney stone will develop additional stones, usually within 10 years of the first stone.

MalaCards based summary: Nephrolithiasis, Calcium Oxalate, also known as kidney stones, is related to nephrolithiasis/osteoporosis, hypophosphatemic, 1 and primary hyperoxaluria, and has symptoms including renal pain An important gene associated with Nephrolithiasis, Calcium Oxalate is SLC26A1 (Solute Carrier Family 26 Member 1), and among its related pathways/superpathways are Metabolism and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Nifedipine and Febuxostat have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and spinal cord, and related phenotypes are ureteropelvic junction obstruction and acute kidney injury

PubMed Health : 63 Kidney stones: Kidney stones are small, hard deposits that can form in a part of the kidney called the renal pelvis. Kidney stones that enter a ureter are sometimes referred to as ureteral stones. The ureters are the tubes that carry urine from the kidneys to the bladder. Many of these stones are so small that they are able to travel to the bladder in just a few days or weeks without any treatment, and then exit the body in your urine. So if the stones are smaller, it's often enough to take painkillers, drink plenty of fluids and simply wait for the kidney stones to pass through. Muscle-relaxing medications can be used to help pass medium-sized stones. Larger stones may get stuck as they exit the renal pelvis or take longer to move through the ureter, causing severe pain and other symptoms. Then they usually need to be broken up by sound waves or surgically removed. The most suitable treatment will depend on the size, the type and the position of the stones in the kidney or the urinary tract. It's common to have kidney stones multiple times. Finding the cause is a necessary part of preventing that from happening.

OMIM®: 57 Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. (167030) (Updated 08-Dec-2022)

MedlinePlus: 41 A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: Extreme pain in your back or side that will not go away Blood in your urine Fever and chills Vomiting Urine that smells bad or looks cloudy A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

UniProtKB/Swiss-Prot: 73 A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON is characterized by calcium oxalate kidney stones.

Disease Ontology: 11 A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has material basis in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.

Wikipedia: 75 Kidney stone disease, also known as nephrolithiasis or urolithiasis, is a crystallopathy where a solid... more...

Related Diseases for Nephrolithiasis, Calcium Oxalate

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

(show top 50) (show all 922)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis/osteoporosis, hypophosphatemic, 1 32.1 SLC34A1 CLCN5
2 primary hyperoxaluria 32.1 SPP1 GRHPR AGXT
3 ureterolithiasis 31.8 GRHPR AGXT
4 hyperoxaluria, primary, type ii 31.8 GRHPR AGXT
5 hyperoxaluria, primary, type iii 31.7 SLC26A6 GRHPR AGXT
6 dent disease 1 31.7 SLC34A1 CLCN5
7 xanthinuria 31.6 GRHPR APRT AGXT
8 hypophosphatemic nephrolithiasis/osteoporosis 31.6 SLC34A1 CLCN5
9 adenine phosphoribosyltransferase deficiency 31.3 UMOD GRHPR CLCN5 APRT AGXT
10 chronic kidney disease 30.8 VDR UMOD SPP1 CASR APRT AGXT
11 nephrocalcinosis 30.4 SPP1 SLC34A1 GRHPR CLCN5 CASR AGXT
12 lower urinary tract calculus 30.4 SLC26A6 AGXT
13 pyelonephritis 30.2 UMOD NAGLU AMBP
14 urolithiasis 30.2 VDR UMOD SPP1 SLC26A6 SLC26A1 CASR
15 vesicoureteral reflux 30.2 UMOD NAGLU AMBP
16 renal tuberculosis 30.1 SLC26A6 AGXT
17 acute kidney tubular necrosis 30.1 UMOD NAGLU
18 nephrolithiasis 30.0 VDR UMOD SPP1 SLC34A1 SLC26A6 SLC26A1
19 interstitial nephritis 29.8 UMOD APRT
20 hypophosphatemic rickets with hypercalciuria, hereditary 29.8 SLC34A1 CLCN5
21 hypophosphatemic rickets, x-linked dominant 29.7 SPP1 SLC34A1
22 hypercalciuria, absorptive, 2 29.7 VDR CLCN5 CASR
23 bartter disease 29.6 UMOD CLCN5 CASR
24 hypophosphatemia 29.5 VDR SPP1 SLC34A1 CLCN5
25 aminoaciduria 29.5 SLC34A1 CLCN5
26 calciphylaxis 29.5 VDR CASR
27 rickets 29.5 VDR SPP1 SLC34A1 CLCN5 CASR
28 hypophosphatemic rickets, x-linked recessive 29.5 VDR SLC34A1 CLCN5
29 sialolithiasis 29.5 SLC26A6 CASR
30 uremia 29.3 VDR SPP1 CASR
31 vitamin d-dependent rickets 29.3 VDR SLC34A1
32 hyperphosphatemia 29.2 VDR SPP1 SLC34A1 CASR
33 hypercalcemia, infantile, 1 29.2 VDR SLC34A1 CASR
34 osteomalacia 29.2 VDR SLC34A1 CASR
35 cystinuria 29.0 UMOD SLC34A1 SLC26A1 GRHPR CLCN5 APRT
36 nephrotic syndrome 28.9 NAGLU CLCN5 AMBP AGXT
37 kidney disease 28.7 VDR UMOD SPP1 NAGLU CLCN5 CASR
38 fanconi syndrome 28.7 UMOD SLC34A1 NAGLU CLCN5 AMBP
39 nephrolithiasis/osteoporosis, hypophosphatemic, 2 11.6
40 xanthinuria, type i 11.4
41 gout 11.4
42 xanthinuria, type ii 11.3
43 alkaptonuria 11.3
44 hypocalcemia, autosomal dominant 1 11.3
45 flotch syndrome 11.2
46 hyperparathyroidism 2 with jaw tumors 11.2
47 medullary sponge kidney 11.2
48 phosphoribosylpyrophosphate synthetase superactivity 11.2
49 hyperparathyroidism 1 11.2
50 dent disease 2 11.2

Graphical network of the top 20 diseases related to Nephrolithiasis, Calcium Oxalate:



Diseases related to Nephrolithiasis, Calcium Oxalate

Symptoms & Phenotypes for Nephrolithiasis, Calcium Oxalate

Human phenotypes related to Nephrolithiasis, Calcium Oxalate:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ureteropelvic junction obstruction 30 HP:0000074
2 acute kidney injury 30 HP:0001919
3 calcium oxalate nephrolithiasis 30 HP:0008672
4 hyperoxaluria 30 HP:0003159

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Bladder:
ureteropelvic junction obstruction

Laboratory Abnormalities:
increased urinary oxalate

Genitourinary Kidneys:
acute renal failure
nephrolithiasis, calcium oxalate

Clinical features from OMIM®:

167030 (Updated 08-Dec-2022)

UMLS symptoms related to Nephrolithiasis, Calcium Oxalate:


renal pain

MGI Mouse Phenotypes related to Nephrolithiasis, Calcium Oxalate:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 10.13 AGXT APRT CASR CLCN5 GRHPR IDUA
2 homeostasis/metabolism MP:0005376 10.03 AGXT APRT CASR CLCN5 GRHPR IDUA
3 cellular MP:0005384 9.81 AMBP CASR CLCN5 IDUA NAGLU SLC26A1
4 immune system MP:0005387 9.61 APRT CASR GRHPR IDUA NAGLU SLC26A1
5 skeleton MP:0005390 9.23 CASR CLCN5 IDUA NAGLU SLC34A1 SPP1

Drugs & Therapeutics for Nephrolithiasis, Calcium Oxalate

PubMed Health treatment related to Nephrolithiasis, Calcium Oxalate: 63

If you have smaller kidney stones that aren't painful, all you need to do is wait to pass them when you urinate. It's possible to tell by their size and location whether they can pass on their own. You can use painkillers such as diclofenac , ibuprofen or metamizole to relieve any pain. They can be combined with stronger drugs (opioids) for more severe pain. Certain muscle -relaxing medications (alpha blockers ) can make it easier to pass kidney stones that are 5 to 10 millimeters in diameter. Larger kidney stones usually need to be removed. Depending on how large the kidney stones are and where they're located, sound waves can be used to destroy them or they can be removed using endoscopy or surgery .

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

(show top 50) (show all 259)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nifedipine Approved Phase 4 21829-25-4 4485
2
Febuxostat Approved Phase 4 144060-53-7 134018
3
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
4
Sildenafil Approved, Investigational Phase 4 139755-83-2, 171599-83-0 5212 135398744
5
Propantheline Approved Phase 4 298-50-0 4934
6
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Belladonna Approved, Experimental Phase 4
9
Opium Approved, Illicit Phase 4 8008-60-4
10
Atropine Approved, Vet_approved Phase 4 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
11
Scopolamine Approved, Investigational Phase 4 51-34-3 153311 3000322
12
Mirabegron Approved Phase 4 223673-61-8 18319735 9865528
13
Vancomycin Approved Phase 4 1404-90-6 14969
14
Ceftriaxone Approved Phase 4 73384-59-5 5479530
15
Ibuprofen Approved Phase 4 15687-27-1 3672
16
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
17
Tramadol Approved, Investigational Phase 4 27203-92-5 33741 5523
18
Diclofenac Approved, Vet_approved Phase 4 15307-86-5, 15307-79-6 3033
19
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
20
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
21
Losartan Approved Phase 4 114798-26-4 3961
22
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
23
Selenium Approved, Investigational, Vet_approved Phase 4 7783-07-5, 7782-49-2 533
24
Nitric Oxide Approved Phase 4 10102-43-9 145068
25
Remifentanil Approved Phase 4 132875-61-7 60815
26
Meperidine Approved Phase 4 57-42-1 4058
27
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
28
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
29
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
30
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
31
Sulfamethoxazole Approved Phase 4 723-46-6 5329
32
Allopurinol Approved Phase 4 315-30-0 2094 135401907
33
Indapamide Approved Phase 4 26807-65-8 3702
34
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
35
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
36
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
37
Dapagliflozin Approved Phase 4 461432-26-8 9887712
38
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
39
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
40
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
41
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
42
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
43
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
44
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
45
Naftopidil Investigational Phase 4 57149-07-2 4418
46
Erythritol Experimental Phase 4 149-32-6 222285
47 Anti-Ulcer Agents Phase 4
48 Antacids Phase 4
49 calcium channel blockers Phase 4
50 Tocolytic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 510)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 The Effect of Daily Versus Twice Per Day Tamsulosin on Ureteral Stent Symptoms Following Ureteroscopy for Nephrolithiasis Unknown status NCT03799120 Phase 4 Tamsulosin BID
5 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
6 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
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 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
9 A Randomized, Blank Controlled, Multicenter Clinical Trial of the Effection of Potassium Citrate Extended-release Tablets on Urolithiasis Formation or Recurrence Unknown status NCT03007160 Phase 4 Potassium Citrate Extended-release Tablets
10 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
11 Department of Urology, Shanghai Xu-hui Central Hospital Unknown status NCT04398251 Phase 4 Febuxostat 40mg Tab
12 Shock Wave Lithotripsy Versus Visual Cystolitholapaxy in The Management of Patients Presenting With Calcular Acute Urinary Retention: A Randomized Controlled Trial. Unknown status NCT02594631 Phase 4
13 the Therapeutic Effect Treated With Tamsulosin After ESWL in Urinary Calculus Unknown status NCT01010048 Phase 4 progesterone,tamsulosin,propantheline Bromide and nifedipine
14 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 Completed NCT03888144 Phase 4 Oxycodone;Ketorolac
15 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
16 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
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 Prospective Evaluation of Oral Alkalinization by Urologists and Nephrologists: Evolution of the Extracellular Compartment Completed NCT03035812 Phase 4 Alkali
19 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Completed NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
20 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
21 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
22 Effectiveness of Prescription vs. Non-prescription Urinary Alkalinizing Agents on Kidney Stone Risk Completed NCT04095975 Phase 4
23 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
24 Efficacy of Tramadol Hcl in the Treatment of Renal Colic Completed NCT00310908 Phase 4 Tramadol Hcl
25 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
26 Tamsulosin as Adjunctive Therapy After Extracorporeal Shock Wave Lithotripsy for Renal Stones Completed NCT04819828 Phase 4 Diclofenac;Tamsulosin
27 The Effect of Allopurinol on Malondialdehyde, Nitric Oxide, Kidney Injury Molecule-1 Urine Levels, Resistive Index and Renal Elastography in Kidney Stone Patients After Extra Corporeal Shockwave Lithotripsy Completed NCT05414669 Phase 4 Allopurinol Tablet 300 mg;Control Group
28 Total Intravenous Anaesthesia Using Remifentanil In Extracorporeal Shock Wave Lithotripsy (ESWL). Comparison of Two Dosages. Completed NCT01452880 Phase 4 Remifentanil
29 A Prospective Double Blind Randomized Control Trial Comparing Opioid to Non-Opioid Protocol in Managing Postoperative Pain After Ureteroscopy With Stent Placement Completed NCT03872843 Phase 4 Norco 5milligram-325milligram Tablet;Ibuprofen 400 MILLIGRAM in 1 TABLET ORAL TABLET, FILM COATED
30 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Elective Percutaneous Nephrolithotomy Completed NCT02818140 Phase 4 Ropivacaine;Saline
31 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
32 Efficacy of Pethidine, Ketorolac And Xylocaine Gel As Analgesics For Pain Control In Shockwave Lithotripsy Single Blinded Randomized Controlled Trial Completed NCT03032458 Phase 4 Pethidine;Ketorolac;Xylocaine Gel
33 Randomized Controlled Trial of Ultrasound Versus CT (Computed Tomography) for Patients in the Emergency Department With Suspected Renal Colic Completed NCT01451931 Phase 4
34 Intravenous Paracetamol or Morphine for the Treatment of Acute Flank Pain : a Randomized, Double Blind, Controlled Clinical Trial Completed NCT01318187 Phase 4 paracetamol;morphine;Paracetamol;Morphine
35 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
36 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
37 Randomized Trial of Empiric Versus Selective Prevention Strategies for Kidney Stone Disease Recruiting NCT05365477 Phase 4 Empiric Therapy: Drug;Selective Therapy: Drug
38 Pathogenesis of Uric Acid Nephrolithiasis: Role of Pioglitazone/Weight Loss Recruiting NCT04370093 Phase 4 Pioglitazone 45 mg
39 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
40 Continuous Erector Spinae Plane Blocks to Treat Pain Following Percutaneous Nephrolithotomy: A Randomized, Placebo-controlled Clinical Trial Recruiting NCT05121168 Phase 4 Active bupivacaine 0.25% via an erector spinae plane perineural catheter;Placebo normal saline via an erector spinae plane perineural catheter
41 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
42 Dapagliflozin and Hydrochlorothiazide Treatment in Recurring Kidney Stone Patients - a Randomised Single Center Cross-over Study Not yet recruiting NCT05443932 Phase 4 Dapagliflozin;Hydrochlorothiazide
43 Randomized, Prospective Trial of Regional Erector Spinae Analgesic Block Versus Standard of Care in Patients Undergoing Percutaneous Nephrolithotomy Terminated NCT04663269 Phase 4 4mg PF Dexamethasone;Control Test
44 Efectividad de la Tamsulosina Como Tratamiento Adyuvante Previo a Ureterolitotomia Endoscopica Terminated NCT03614052 Phase 4 Tamsulosin Hydrochloride 0.4 milligrams;Placebo Oral Tablet
45 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
46 A Prospective Randomized Controlled Clinical Trial of the Use of a Ureteral Access Sheath During Ureteroscopy and Its Effect on Stone Free Rate Terminated NCT00199524 Phase 4
47 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
48 Comparison of the 100 W Holmium Laser Lithotripsy Rate Versus LithoClast Trilogy EMS in Percutaneous Mini-nephrolithotomy for Patients With Kidney Stones GUY's 1 and 2: Randomized Clinical Trial Unknown status NCT04559321 Phase 3
49 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
50 Evaluation of Alfuzosin as Medical Expulsion Therapy for Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin

Search NIH Clinical Center for Nephrolithiasis, Calcium Oxalate

Genetic Tests for Nephrolithiasis, Calcium Oxalate

Anatomical Context for Nephrolithiasis, Calcium Oxalate

Organs/tissues related to Nephrolithiasis, Calcium Oxalate:

MalaCards : Kidney, Bone, Spinal Cord, Prostate, Neutrophil, Liver, Lung
ODiseA: Kidney
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

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

Publications for Nephrolithiasis, Calcium Oxalate

Articles related to Nephrolithiasis, Calcium Oxalate:

(show top 50) (show all 27070)
# Title Authors PMID Year
1
Mutations in SLC26A1 Cause Nephrolithiasis. 62 57 5
27210743 2016
2
Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport. 62 57
27125215 2016
3
A whole genome SNP genotyping by DNA microarray and candidate gene association study for kidney stone disease. 62 5
24886237 2014
4
Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice. 62 57
20160351 2010
5
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. 62 57
19561606 2009
6
Oxalobacter formigenes may reduce the risk of calcium oxalate kidney stones. 62 57
18322162 2008
7
Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. 62 57
16532010 2006
8
An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. 62 57
3945245 1986
9
Raised transmembrane oxalate flux in red blood cells in idiopathic calcium oxalate nephrolithiasis. 62 57
6145933 1984
10
The cause of idiopathic calcium stone disease: hypercalciuria or hyperoxaluria? 62 57
7412965 1980
11
Family history of renal stones in a population study of stone-formers and health subjects. 62 57
465998 1979
12
Acquired hyperoxaluria, urolithiasis, and intestinal disease: a new digestive disorder? 62 57
4829127 1974
13
Genetic predisposition to formation of calcium oxalate renal calculi. 62 57
5648597 1968
14
Heredity in renal stone disease. 62 57
13773937 1960
15
Obesity Is Positively Associated and Alcohol Intake Is Negatively Associated with Nephrolithiasis. 62 41
36235774 2022
16
Association of functional genetic variants in TFF1 and nephrolithiasis risk in a Chinese population. 62 41
35987613 2022
17
Development and validation of a nomogram for risk prediction of nephrolithiasis recurrence in patients with primary hyperparathyroidism. 62 41
36120445 2022
18
Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. 57
18276610 2008
19
A key stone cop regulates oxalate homeostasis. 57
16570061 2006
20
Prevention of calcium stones with thiazides. 57
351268 1978
21
The role of carbonic anhydrase inhibitors on anion permeability into ox red blood cells. 57
933067 1976
22
Primary hyperoxaluria. II. Genetic studies in a family. 57
13854789 1960
23
Vitamin D receptor gene Alw I, Fok I, Apa I, and Taq I polymorphisms in patients with urinary stone. 53 62
20018354 2010
24
Attributing Hardy-Weinberg disequilibrium to population stratification and genetic association in case-control studies. 53 62
19930249 2010
25
Vitamin D receptor and calcium-sensing receptor gene polymorphisms in hypercalciuric stone-forming patients. 53 62
19887834 2010
26
Crystallization of calcium oxalates is controlled by molecular hydrophilicity and specific polyanion-crystal interactions. 53 62
19725562 2009
27
Proteomics and detection of uromodulin in first-time renal calculi patients and recurrent renal calculi patients. 53 62
19145410 2009
28
Modulation of calcium oxalate dihydrate growth by selective crystal-face binding of phosphorylated osteopontin and polyaspartate peptide showing occlusion by sectoral (compositional) zoning. 53 62
19581305 2009
29
Physiological roles of CLC Cl(-)/H (+) exchangers in renal proximal tubules. 53 62
18853181 2009
30
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 53 62
19296982 2009
31
Heterogeneous disease modeling for Hardy-Weinberg disequilibrium in case-control studies: application to renal stones and calcium-sensing receptor polymorphisms. 53 62
19133942 2009
32
In vivo and in vitro examination of stability of primary hyperoxaluria-associated human alanine:glyoxylate aminotransferase. 53 62
18782763 2008
33
[Construction of urinary Tamm-Horsfall protein assay by enzyme-linked immunosorbent assay and establishment of reference range of healthy subject]. 53 62
19068782 2008
34
Post-translational modification and proteolytic processing of urinary osteopontin. 53 62
18072945 2008
35
[Calcium kidney stones. Diagnostic and preventive prospects]. 53 62
18278757 2007
36
Specific adsorption of osteopontin and synthetic polypeptides to calcium oxalate monohydrate crystals. 53 62
17496021 2007
37
Association of osteopontin gene haplotypes with nephrolithiasis. 53 62
17519954 2007
38
[Calcium-sensing receptor and hypoparathyroidism]. 53 62
17660614 2007
39
Urinary concentration of osteopontin and association with urinary supersaturation and crystal formation. 53 62
17645608 2007
40
R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria. 53 62
17332735 2007
41
A polymorphism of matrix Gla protein gene is associated with kidney stones. 53 62
17509359 2007
42
Tamm-Horsfall protein in recurrent calcium kidney stone formers with positive family history: abnormalities in urinary excretion, molecular structure and function. 53 62
17345077 2007
43
[Alterations in bone mineral metabolism in patients with calcium kidney stone disease and polymorphism of vitamin D receptor. Preliminary results]. 53 62
18336098 2007
44
Primary hyperparathyroidism and the presence of kidney stones are associated with different haplotypes of the calcium-sensing receptor. 53 62
17018660 2007
45
Thirty-eight years of stone meetings in Europe. 53 62
16506036 2006
46
Expression profiling of crystal-induced injury in human kidney epithelial cells. 53 62
16374038 2006
47
Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis. 53 62
15856322 2005
48
Promoter rearrangements cause species-specific hepatic regulation of the glyoxylate reductase/hydroxypyruvate reductase gene by the peroxisome proliferator-activated receptor alpha. 53 62
15840574 2005
49
Screening for CLCN5 mutation in renal calcium stone formers patients. 53 62
15692680 2005
50
Uric acid and the kidney: urate transport, stone disease and progressive renal failure. 53 62
16375737 2005

Variations for Nephrolithiasis, Calcium Oxalate

ClinVar genetic disease variations for Nephrolithiasis, Calcium Oxalate:

5 (show all 31)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AHSG NM_001622.4(AHSG):c.574-298T>G SNV Association
126865 rs2070634 GRCh37: 3:186336027-186336027
GRCh38: 3:186618238-186618238
2 AHSG NM_001622.4(AHSG):c.574-149A>G SNV Association
126866 rs2070635 GRCh37: 3:186336176-186336176
GRCh38: 3:186618387-186618387
3 CD44 NM_000610.4(CD44):c.67+11205G>A SNV Association
126867 rs353623 GRCh37: 11:35172122-35172122
GRCh38: 11:35150575-35150575
4 CD44 NM_000610.4(CD44):c.67+14128T>C SNV Association
126868 rs353618 GRCh37: 11:35175045-35175045
GRCh38: 11:35153498-35153498
5 CD44 NM_000610.4(CD44):c.68-18471G>A SNV Association
126869 rs353612 GRCh37: 11:35179651-35179651
GRCh38: 11:35158104-35158104
6 CD44, SNORD164 NM_000610.4(CD44):c.68-13570A>T SNV Association
126870 rs353637 GRCh37: 11:35184552-35184552
GRCh38: 11:35163005-35163005
7 CD44 NM_000610.4(CD44):c.68-9931G>A SNV Association
126871 rs353630 GRCh37: 11:35188191-35188191
GRCh38: 11:35166644-35166644
8 CD44 NM_000610.4(CD44):c.68-6677C>G SNV Association
126872 rs353647 GRCh37: 11:35191445-35191445
GRCh38: 11:35169898-35169898
9 CD44 NM_000610.4(CD44):c.68-5908G>A SNV Association
126873 rs3794110 GRCh37: 11:35192214-35192214
GRCh38: 11:35170667-35170667
10 CD44 NM_000610.4(CD44):c.68-5843A>G SNV Association
126874 rs3794109 GRCh37: 11:35192279-35192279
GRCh38: 11:35170732-35170732
11 CD44 NM_000610.4(CD44):c.68-5493C>T SNV Association
126875 rs112762 GRCh37: 11:35192629-35192629
GRCh38: 11:35171082-35171082
12 CD44 NM_000610.4(CD44):c.234-905G>A SNV Association
126876 rs3794105 GRCh37: 11:35200916-35200916
GRCh38: 11:35179369-35179369
13 CD44 NM_000610.4(CD44):c.923-767T>A SNV Association
126877 rs7110737 GRCh37: 11:35221862-35221862
GRCh38: 11:35200315-35200315
14 CD44 NM_000610.4(CD44):c.2024+779A>G SNV Association
126878 rs7116432 GRCh37: 11:35244058-35244058
GRCh38: 11:35222511-35222511
15 HAO1 NM_017545.3(HAO1):c.814-2945A>G SNV Association
126881 rs2294305 GRCh37: 20:7869456-7869456
GRCh38: 20:7888809-7888809
16 HAO1 NM_017545.3(HAO1):c.814-4211G>A SNV Association
126882 rs2235250 GRCh37: 20:7870722-7870722
GRCh38: 20:7890075-7890075
17 HAO1 NM_017545.3(HAO1):c.721+1617G>C SNV Association
126883 rs2294301 GRCh37: 20:7885184-7885184
GRCh38: 20:7904537-7904537
18 HAO1 NM_017545.3(HAO1):c.545+1171T>C SNV Association
126884 rs2423326 GRCh37: 20:7893640-7893640
GRCh38: 20:7912993-7912993
19 HAO1 NM_017545.3(HAO1):c.290-1983G>A SNV Association
126885 rs6118004 GRCh37: 20:7897049-7897049
GRCh38: 20:7916402-7916402
20 HAO1 NM_017545.3(HAO1):c.290-4862A>G SNV Association
126886 rs2205818 GRCh37: 20:7899928-7899928
GRCh38: 20:7919281-7919281
21 HAO1 NM_017545.3(HAO1):c.289+8188C>T SNV Association
126887 rs2142697 GRCh37: 20:7906943-7906943
GRCh38: 20:7926296-7926296
22 HAO1 NM_017545.3(HAO1):c.289+5965C>T SNV Association
126888 rs6140463 GRCh37: 20:7909166-7909166
GRCh38: 20:7928519-7928519
23 HAO1 NM_017545.3(HAO1):c.289+2189G>C SNV Association
126889 rs2235245 GRCh37: 20:7912942-7912942
GRCh38: 20:7932295-7932295
24 HAO1 NM_017545.3(HAO1):c.137+329T>C SNV Association
126890 rs2255183 GRCh37: 20:7920604-7920604
GRCh38: 20:7939957-7939957
25 BGLAP, PAQR6 NM_198406.3(PAQR6):c.*663C>T SNV Association
126864 rs759330 GRCh37: 1:156213257-156213257
GRCh38: 1:156243466-156243466
26 HAO1 NM_017545.2(HAO1):c.*697T>C SNV Association
126880 rs6055363 GRCh37: 20:7863543-7863543
GRCh38: 20:7882896-7882896
27 IDUA, SLC26A1 NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) SNV Likely Pathogenic
242374 rs139024319 GRCh37: 4:984938-984938
GRCh38: 4:991150-991150
28 IDUA, SLC26A1 NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) SNV Likely Pathogenic
242375 rs148832260 GRCh37: 4:983654-983654
GRCh38: 4:989866-989866
29 IDUA, SLC26A1 NM_022042.4(SLC26A1):c.1231C>T (p.Arg411Trp) SNV Uncertain Significance
1028745 rs554753768 GRCh37: 4:983496-983496
GRCh38: 4:989708-989708
30 IDUA, SLC26A1 NM_000203.5(IDUA):c.299+988C>T SNV Uncertain Significance
720732 rs142262555 GRCh37: 4:982725-982725
GRCh38: 4:988937-988937
31 IDUA, SLC26A1 NM_022042.4(SLC26A1):c.1667A>G (p.Gln556Arg) SNV Benign
1166787 GRCh37: 4:983060-983060
GRCh38: 4:989272-989272

UniProtKB/Swiss-Prot genetic disease variations for Nephrolithiasis, Calcium Oxalate:

73
# Symbol AA change Variation ID SNP ID
1 SLC26A1 p.Thr185Met VAR_077135 rs139024319
2 SLC26A1 p.Ser358Leu VAR_077136 rs148832260

Expression for Nephrolithiasis, Calcium Oxalate

Search GEO for disease gene expression data for Nephrolithiasis, Calcium Oxalate.

Pathways for Nephrolithiasis, Calcium Oxalate

GO Terms for Nephrolithiasis, Calcium Oxalate

Cellular components related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basolateral plasma membrane GO:0016323 9.23 UMOD SLC26A6 SLC26A1 CASR

Biological processes related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cellular calcium ion homeostasis GO:0006874 10 VDR UMOD CASR
2 ossification GO:0001503 9.85 SPP1 SLC34A1 CASR
3 sulfate transmembrane transport GO:1902358 9.81 SLC26A6 SLC26A1
4 sulfate transport GO:0008272 9.78 SLC26A6 SLC26A1
5 intestinal absorption GO:0050892 9.73 VDR SLC26A6
6 chloride transport GO:0006821 9.73 SLC26A6 SLC26A1 CLCN5
7 glycosaminoglycan catabolic process GO:0006027 9.71 NAGLU IDUA
8 phosphate ion homeostasis GO:0055062 9.67 UMOD SLC34A1
9 cellular phosphate ion homeostasis GO:0030643 9.67 SLC34A1 UMOD
10 oxalate transport GO:0019532 9.62 SLC26A6 SLC26A1
11 chloride transmembrane transport GO:1902476 9.56 SLC26A6 SLC26A1 CLCN5 CASR
12 glyoxylate metabolic process GO:0046487 9.46 GRHPR AGXT
13 oxalic acid secretion GO:0046724 8.92 SLC26A6 AGXT

Molecular functions related to Nephrolithiasis, Calcium Oxalate according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 9.71 CASR AGXT
2 chloride transmembrane transporter activity GO:0015108 9.67 SLC26A6 SLC26A1
3 bicarbonate transmembrane transporter activity GO:0015106 9.62 SLC26A6 SLC26A1
4 sulfate transmembrane transporter activity GO:0015116 9.56 SLC26A6 SLC26A1
5 oxalate transmembrane transporter activity GO:0019531 9.46 SLC26A6 SLC26A1
6 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A6 SLC26A1
7 antiporter activity GO:0015297 9.02 SLC26A6 SLC26A1 CLCN5

Sources for Nephrolithiasis, Calcium Oxalate

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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