CAON
MCID: NPH091
MIFTS: 66

Nephrolithiasis, Calcium Oxalate (CAON)

Categories: Blood diseases, Genetic diseases, Nephrological diseases

Aliases & Classifications for Nephrolithiasis, Calcium Oxalate

MalaCards integrated aliases for Nephrolithiasis, Calcium Oxalate:

Name: Nephrolithiasis, Calcium Oxalate 56 12 73 39 71
Nephrolithiasis 12 74 25 29 54 6 43 15 17 71
Kidney Stones 56 12 25 73 42 15 62
Calcium Oxalate Urolithiasis 73 29 6 17
Urolithiasis, Calcium Oxalate 56 12 73
Urolithiasis 25 54 32
Calculus of Kidney and Ureter 12 32
Calculus of Kidney 25 32
Kidney Calculi 25 71
Urinary Stones 25 54
Kidney Stone 25 17
Caon 56 73
Calcium Oxalate Nephrolithiasis 36
Stone - Kidney/ureter 12
Calculus, Kidney 25
Calculus, Renal 25
Renal Lithiasis 25
Renal Calculus 25
Renal Calculi 25
Renal Stones 25
Renal Stone 54
Nephrolith 25

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
one patient has been reported (last curated june 2016)


HPO:

31
nephrolithiasis, calcium oxalate:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:585
OMIM 56 167030
KEGG 36 H02145
ICD9CM 34 592
MeSH 43 D053040
MedGen 41 C1833683
UMLS 71 C0022650 C0156257 C0392525 more

Summaries for Nephrolithiasis, Calcium Oxalate

Genetics Home Reference : 25 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 nephrolithiasis, is related to nephrolithiasis, uric acid and nephrolithiasis/osteoporosis, hypophosphatemic, 1, 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 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 Alfuzosin and Mirabegron have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and testes, and related phenotypes are acute kidney injury and ureteropelvic junction obstruction

OMIM : 56 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)

MedlinePlus : 42 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

KEGG : 36 Nephrolithiasis is a condition in which urinary supersaturation leads to stone formation in the urinary system. It is a major health problem and its prevalence has significantly increased among children over the last decades. It is a multifactorial disease involving environmental, physiological, and genetic factors. Nephrolithiasis is genetically heterogenous, and mutations in at least 30 genes have been linked to this disorder. Recently, it has been reported that mutations in SLC26A1 cause a recessive form of calcium oxalate urolithiasis.

UniProtKB/Swiss-Prot : 73 Nephrolithiasis, calcium oxalate: 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.

PubMed Health : 62 About 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.

Wikipedia : 74 Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... 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 712)
# Related Disease Score Top Affiliating Genes
1 nephrolithiasis, uric acid 35.2 XDH GRHPR AGXT
2 nephrolithiasis/osteoporosis, hypophosphatemic, 1 35.1 SLC34A3 SLC34A1 CLCN5
3 dent disease 1 33.7 SLC34A3 SLC12A1 CLCN5
4 gout 33.6 XDH UMOD APRT
5 primary hyperoxaluria 33.6 SPP1 SLC34A3 SLC26A1 GRHPR CLCN5 AGXT
6 adenine phosphoribosyltransferase deficiency 33.6 XDH GRHPR CLCN5 APRT AGXT
7 cystinuria 33.4 XDH SLC3A1 GRHPR CLCN5 AGXT
8 hypercalciuria, absorptive, 2 33.3 VDR SLC34A3 CLDN16 CLCN5 CASR
9 nephrocalcinosis 33.3 XDH UMOD SPP1 SLC3A1 SLC34A3 SLC34A1
10 chronic kidney disease 33.2 VDR UMOD SPP1 CASR
11 hypocalcemia, autosomal dominant 1 33.1 VDR CLDN16 CASR
12 hereditary xanthinuria 32.8 XDH APRT
13 idiopathic hypercalciuria 31.8 VDR SLC34A3 CLCN5 CASR
14 kidney disease 31.6 XDH VDR UMOD SPP1 SLC12A1 CLCN5
15 rickets 31.5 VDR SPP1 SLC34A3 SLC34A1 CLCN5 CASR
16 hydronephrosis 31.5 XDH SLC12A1 AMBP
17 xanthinuria 31.4 XDH GRHPR APRT
18 hypophosphatemia 31.3 VDR SPP1 SLC34A3 SLC34A1 CLCN5
19 hypophosphatemic rickets, x-linked recessive 31.2 VDR SLC34A3 SLC34A1 CLCN5
20 bone disease 31.2 VDR SPP1 SLC34A3 CASR
21 uremia 31.0 VDR SPP1 CASR
22 aminoaciduria 30.9 SLC3A1 SLC34A1 CLCN5
23 hereditary hypophosphatemic rickets 30.9 SLC34A3 SLC34A1
24 bone resorption disease 30.9 VDR SPP1 CASR
25 bartter disease 30.8 UMOD SLC12A1 CLDN16 CLCN5 CASR
26 fanconi syndrome 30.7 UMOD SLC34A3 SLC34A1 CLCN5 AMBP
27 hyperphosphatemia 30.7 VDR SPP1 SLC34A1 CASR
28 osteomalacia 30.7 VDR SLC34A3 SLC34A1 CLCN5 CASR
29 calciphylaxis 30.7 VDR SPP1 CASR
30 hypercalcemia, infantile, 1 30.7 VDR CASR
31 hypophosphatemic rickets with hypercalciuria, hereditary 30.6 SLC34A3 SLC34A1
32 hypertension, essential 30.5 XDH VDR UMOD SPP1 SLC12A1 AMBP
33 pulmonary alveolar microlithiasis 30.4 SLC34A3 SLC34A1
34 nephrolithiasis/osteoporosis, hypophosphatemic, 2 12.6
35 dominant hypophosphatemia with nephrolithiasis or osteoporosis 12.3
36 xanthinuria, type ii 11.8
37 ureterolithiasis 11.7
38 medullary sponge kidney 11.7
39 hyperglycinuria 11.6
40 hyperoxaluria, primary, type i 11.6
41 hyperparathyroidism 2 with jaw tumors 11.6
42 hyperparathyroidism 11.5
43 primary hyperparathyroidism 11.5
44 distal renal tubular acidosis 11.5
45 horseshoe kidney 11.5
46 hyperoxaluria, primary, type ii 11.5
47 hyperoxaluria, primary, type iii 11.5
48 polycystic kidney disease 11.4
49 anuria 11.4
50 familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis 11.4

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:

31
# Description HPO Frequency HPO Source Accession
1 acute kidney injury 31 HP:0001919
2 ureteropelvic junction obstruction 31 HP:0000074
3 hyperoxaluria 31 HP:0003159
4 calcium oxalate nephrolithiasis 31 HP:0008672

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Bladder:
ureteropelvic junction obstruction

Laboratory Abnormalities:
increased urinary oxalate

Genitourinary Kidneys:
acute renal failure
nephrolithiasis, calcium oxalate

Clinical features from OMIM:

167030

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 homeostasis/metabolism MP:0005376 10.19 AGXT APRT ATP6V1B1 BRCA2 CASR CLCN5
2 growth/size/body region MP:0005378 10.1 APRT BRCA2 CASR CLCN5 SLC12A1 SLC34A1
3 immune system MP:0005387 9.9 APRT BRCA2 CASR GRHPR SLC12A1 SLC26A1
4 renal/urinary system MP:0005367 9.86 AGXT APRT ATP6V1B1 CASR CLCN5 CLDN16
5 skeleton MP:0005390 9.36 ATP6V1B1 BRCA2 CASR CLCN5 SLC12A1 SLC34A1

Drugs & Therapeutics for Nephrolithiasis, Calcium Oxalate

PubMed Health treatment related to Nephrolithiasis, Calcium Oxalate: 62

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 378)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
2
Mirabegron Approved Phase 4 223673-61-8 9865528
3
Nefopam Approved, Investigational Phase 4 13669-70-0
4
Febuxostat Approved Phase 4 144060-53-7 134018
5
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
6
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
7
Penicillamine Approved Phase 4 52-67-5 5852 4727
8
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
9
Vancomycin Approved Phase 4 1404-90-6 441141 14969
10
Opium Approved, Illicit Phase 4 8008-60-4
11
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
12
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
13
Belladonna Approved, Experimental Phase 4
14
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
15
Loperamide Approved Phase 4 53179-11-6 3955
16
Losartan Approved Phase 4 114798-26-4 3961
17
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
18
Verapamil Approved Phase 4 52-53-9 2520
19
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
20
Remifentanil Approved Phase 4 132875-61-7 60815
21
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
22
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
23
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
24
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
25
Alendronate Approved Phase 4 121268-17-5, 66376-36-1 2088
26
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
27
Lithium carbonate Approved Phase 4 554-13-2
28
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
29
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
30
Sage Approved Phase 4
31
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
32
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
33
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
34
Ondansetron Approved Phase 4 99614-02-5 4595
35
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
36
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
37
Meperidine Approved Phase 4 57-42-1 4058
38
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
39
Zoledronic Acid Approved Phase 4 118072-93-8 68740
40
Tranexamic Acid Approved Phase 4 1197-18-8 5526
41
Ibuprofen Approved Phase 4 15687-27-1 3672
42
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
43
leucovorin Approved Phase 4 58-05-9 6006 143
44
Nitrofurantoin Approved, Vet_approved Phase 4 67-20-9 5353830
45
Trimethoprim Approved, Vet_approved Phase 4 738-70-5 5578
46
Sulfamethoxazole Approved Phase 4 723-46-6 5329
47
Cinacalcet Approved Phase 4 226256-56-0 156419
48
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
49
Baclofen Approved Phase 4 1134-47-0 2284
50
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850

Interventional clinical trials:

(show top 50) (show all 526)
# Name Status NCT ID Phase Drugs
1 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
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 Is There Any Relation Between Pain and Stone Location in Retrograde Intrarenal Surgery? Unknown status NCT02430883 Phase 4
4 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
5 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
6 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
7 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
8 Ureteral Stent-related Pain and Mirabegron (SPAM) Trial Unknown status NCT02095665 Phase 4 Mirabegron;Tamsulosin;Tylenol #3
9 A Single Center, Prospective Randomized Double-blind Trial: Efficacy of Nefopam and Morphine in Balanced Analgesia for Acute Ureteric Colic Unknown status NCT01543165 Phase 4 Ketorolac and nefopam balanced analgesia;Balanced analgesia using ketorolac and morphine;Pain control with single analgesics (ketorolac)
10 The Effect of Vitamin D Supplementation on Calcium Excretion in Thalassemia: a Dose Response Study Unknown status NCT01323608 Phase 4 Vitamin D3;Placebo
11 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
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 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
14 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
15 Efficacy of Tramadol Hcl in the Treatment of Renal Colic Completed NCT00310908 Phase 4 Tramadol Hcl
16 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
17 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
18 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
19 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
20 Ultrasound Guided Thoracic Paravertebral Block Completed NCT02291692 Phase 4
21 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
22 Ultrasound-guided Transmuscular Quadratus Lumborum Block for Elective Percutaneous Nephrolithotomy Completed NCT02818140 Phase 4 Ropivacaine;Saline
23 Randomized Controlled Trial of Ultrasound Versus CT (Computed Tomography) for Patients in the Emergency Department With Suspected Renal Colic Completed NCT01451931 Phase 4
24 Total Intravenous Anaesthesia Using Remifentanil In Extracorporeal Shock Wave Lithotripsy (ESWL). Comparison of Two Dosages. Completed NCT01452880 Phase 4 Remifentanil;Remifentanil
25 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
26 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;Paracetamol;Morphine
27 Combination of Remifentanil and Flurbiprofen in Sedation and Analgesia for ESWL of Pancreatic Stone Completed NCT01998217 Phase 4 Remifentanil;Flurbiprofen and remifentanil
28 The Comparison of Low Thoracic Paravertebral Block Versus Peritubal Infiltration in Patients Undergoing Percutaneous Nephrolithotomy Completed NCT02764008 Phase 4 Bupivacaine
29 Prospective Double Blind Multicentre Randomized Trial of Vitamine D Estimating the Profit of a Treatment by Vitamin D3 at the Dose of 100000 UI by Comparison With a Treatment in the Dose of 12 000 UI at Renal Transplanted Patients Completed NCT01431430 Phase 4 Cholecalciferol 100 000 UI;Cholecalciferol 12 000 UI
30 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
31 A Double-Blind, Placebo Controlled Augmentation Study With Allopurinol for Treatment Resistant Mania Completed NCT00643123 Phase 4 Allopurinol
32 Effect of Low Doses of Vitamin C on Salivary Cortisol , Heart Rate , Blood Pressure During Group Presentation Completed NCT04135378 Phase 4 ascorbic acid
33 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
34 SAGE: Supplementation in Adolescent Girls With Endometriosis Completed NCT02387931 Phase 4
35 Shockwave Therapy of Chronic Achilles Tendinopathy. A Double-blind, Randomized Clinical Trial of Efficacy Completed NCT00958620 Phase 4
36 Effect of Increasing Doses of Cystine Binding Thiol Drugs on Cystine Capacity in Patients With Cystinuria Completed NCT02125721 Phase 4 CBTD 0-3 gm
37 A Novel Assay for the Determination of Urinary 2,8-Dihydroxyadenine and Other Key Urinary Purine Metabolites: Effect of Allopurinol and Febuxostat on Urinary 2,8-Dihydroxyadenine Excretion in APRT Deficient Patients Completed NCT02752633 Phase 4 Allopurinol;Febuxostat
38 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
39 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
40 Combination Versus Monotherapy With Alpha Blocker and Anticholinergics to Relieve Urinary Stent Symptoms Completed NCT01741454 Phase 4 Tamsulosin;Tolterodine ER
41 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
42 The Efficacy of Zoledronic Acid in the Prevention of Bone Loss in Acute Spinal Cord Injury Completed NCT02042872 Phase 4 Zoledronic acid
43 Efficacy of a Calcimimetic (Cinacalcet) in the Long Term Control of Patients With Primary Hyperparathyroidism Completed NCT02417389 Phase 4 cinacalcet;Alendronate
44 Impact of Tranexamic Acid Use in Transfusion Rate in Patients With Complex Kidney Stone Undergoing Percutaneous Nephrolithotomy: Randomised, Double-blind, Placebo Controlled Trial Recruiting NCT02966236 Phase 4 Tranexamic Acid;Placebos
45 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
46 A Prospective Double Blind Randomized Control Trial Comparing Opioid to Non-Opioid Protocol in Managing Postoperative Pain After Ureteroscopy With Stent Placement Recruiting NCT03872843 Phase 4 Norco 5milligram-325milligram Tablet;Ibuprofen 400 MILLIGRAM in 1 TABLET ORAL TABLET, FILM COATED
47 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
48 Prospective Evaluation of Oral Alkalinization by Urologists and Nephrologists: Evolution of the Extracellular Compartment Recruiting NCT03035812 Phase 4 Alkali
49 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
50 A Randomized, Blank Controlled, Multicenter Clinical Trial of the Effection of Potassium Citrate Extended-release Tablets on Urolithiasis Formation or Recurrence Recruiting NCT03007160 Phase 4 Potassium Citrate Extended-release Tablets

Search NIH Clinical Center for Nephrolithiasis, Calcium Oxalate

Cochrane evidence based reviews: nephrolithiasis

Genetic Tests for Nephrolithiasis, Calcium Oxalate

Genetic tests related to Nephrolithiasis, Calcium Oxalate:

# Genetic test Affiliating Genes
1 Nephrolithiasis 29
2 Calcium Oxalate Urolithiasis 29 SLC26A1

Anatomical Context for Nephrolithiasis, Calcium Oxalate

MalaCards organs/tissues related to Nephrolithiasis, Calcium Oxalate:

40
Kidney, Bone, Testes, Liver, Heart, Prostate, Spinal Cord
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 5407)
# Title Authors PMID Year
1
Mutations in SLC26A1 Cause Nephrolithiasis. 61 56 6
27210743 2016
2
Extracellular Cl(-) regulates human SO4 (2-)/anion exchanger SLC26A1 by altering pH sensitivity of anion transport. 61 56
27125215 2016
3
An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics. 61 56
3945245 1986
4
Raised transmembrane oxalate flux in red blood cells in idiopathic calcium oxalate nephrolithiasis. 61 56
6145933 1984
5
Plant and Animal Protein Intake and Risk of Incident Kidney Stones: Results from the Shanghai Men's and Women's Health Studies. 61 42
31430246 2019
6
Drug-Induced Urolithiasis in Pediatric Patients. 61 42
31541411 2019
7
Urolithiasis and hepatotoxicity are linked to the anion transporter Sat1 in mice. 56
20160351 2010
8
Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density. 56
19561606 2009
9
Oxalobacter formigenes may reduce the risk of calcium oxalate kidney stones. 56
18322162 2008
10
Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation. 56
18276610 2008
11
A key stone cop regulates oxalate homeostasis. 56
16570061 2006
12
Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6. 56
16532010 2006
13
Hyperoxaluria in idiopathic calcium stone disease: further evidence of intestinal hyperabsorption of oxalate. 56
7105633 1982
14
The cause of idiopathic calcium stone disease: hypercalciuria or hyperoxaluria? 56
7412965 1980
15
Family history of renal stones in a population study of stone-formers and health subjects. 56
465998 1979
16
Prevention of calcium stones with thiazides. 56
351268 1978
17
The role of carbonic anhydrase inhibitors on anion permeability into ox red blood cells. 56
933067 1976
18
Acquired hyperoxaluria, urolithiasis, and intestinal disease: a new digestive disorder? 56
4829127 1974
19
Genetic predisposition to formation of calcium oxalate renal calculi. 56
5648597 1968
20
Heredity in renal stone disease. 56
13773937 1960
21
Primary hyperoxaluria. II. Genetic studies in a family. 56
13854789 1960
22
Kidney and Ureteral Stones. 42
31563199 2019
23
Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure. 54 61
20064951 2010
24
Genetic causes of hypercalciuric nephrolithiasis. 54 61
18446382 2009
25
Severe gouty arthritis and mild neurologic symptoms due to F199C, a newly identified variant of the hypoxanthine guanine phosphoribosyltransferase. 54 61
19565499 2009
26
Late diagnosis of primary hyperoxaluria type 2 in the adult: effect of a novel mutation in GRHPR gene on enzymatic activity and molecular modeling. 54 61
19296982 2009
27
Mutational analysis of CLC-5, cofilin and CLC-4 in patients with Dent's disease. 54 61
19546591 2009
28
Update on primary hypercalciuria from a genetic perspective. 54 61
18343451 2008
29
Post-translational modification and proteolytic processing of urinary osteopontin. 54 61
18072945 2008
30
Preliminary observations of urinary calcium and osteopontin excretion in premature infants, term infants and adults. 54 61
18025797 2008
31
Genetics of hypercalciuric nephrolithiasis: renal stone disease. 54 61
17872384 2007
32
Association of osteopontin gene haplotypes with nephrolithiasis. 54 61
17519954 2007
33
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
34
Randall's plaque, calcium-sensing receptor, and idiopathic calcium nephrolithiasis. 54 61
17167508 2007
35
Hypercalciuria in patients with CLCN5 mutations. 54 61
16807762 2006
36
Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak. 54 61
16352682 2006
37
VDR gene and urinary calcium excretion in nephrolithiasis. 54 61
16518358 2006
38
Partial HPRT deficiency (Kelley-Seegmiller syndrome). 54 61
16649740 2006
39
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. 54 61
16804318 2006
40
ClC-5: a chloride channel with multiple roles in renal tubular albumin uptake. 54 61
16226913 2006
41
N-Glycans carried by Tamm-Horsfall glycoprotein have a crucial role in the defense against urinary tract diseases. 54 61
16622944 2005
42
Functional evaluation of Dent's disease-causing mutations: implications for ClC-5 channel trafficking and internalization. 54 61
15895257 2005
43
Association of vitamin-D and calcitonin receptor gene polymorphism in paediatric nephrolithiasis. 54 61
15856322 2005
44
Screening for CLCN5 mutation in renal calcium stone formers patients. 54 61
15692680 2005
45
Association of vitamin D receptor-gene (FokI) polymorphism with calcium oxalate nephrolithiasis. 54 61
15735395 2005
46
Chloride channels and endocytosis: new insights from Dent's disease and ClC-5 knockout mice. 54 61
15637424 2005
47
Sodium-phosphate cotransporters, nephrolithiasis and bone demineralization. 54 61
15483460 2004
48
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
49
Tamm-Horsfall protein is a critical renal defense factor protecting against calcium oxalate crystal formation. 54 61
15327412 2004
50
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. 54 61
15240651 2004

Variations for Nephrolithiasis, Calcium Oxalate

ClinVar genetic disease variations for Nephrolithiasis, Calcium Oxalate:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD44 NM_000610.4(CD44):c.67+11205G>ASNV association 126867 rs353623 11:35172122-35172122 11:35150575-35150575
2 CD44 NM_000610.4(CD44):c.68-5843A>GSNV association 126874 rs3794109 11:35192279-35192279 11:35170732-35170732
3 BGLAP NM_199173.5(BGLAP):c.*304G>ASNV association 126864 rs759330 1:156213257-156213257 1:156243466-156243466
4 AHSG NM_001622.4(AHSG):c.574-298T>GSNV association 126865 rs2070634 3:186336027-186336027 3:186618238-186618238
5 AHSG NM_001622.4(AHSG):c.574-149A>GSNV association 126866 rs2070635 3:186336176-186336176 3:186618387-186618387
6 CD44 NM_000610.4(CD44):c.67+14128T>CSNV association 126868 rs353618 11:35175045-35175045 11:35153498-35153498
7 CD44 NM_000610.4(CD44):c.68-18471G>ASNV association 126869 rs353612 11:35179651-35179651 11:35158104-35158104
8 CD44 NM_000610.4(CD44):c.68-13570A>TSNV association 126870 rs353637 11:35184552-35184552 11:35163005-35163005
9 CD44 NM_000610.4(CD44):c.68-9931G>ASNV association 126871 rs353630 11:35188191-35188191 11:35166644-35166644
10 CD44 NM_000610.4(CD44):c.68-6677C>GSNV association 126872 rs353647 11:35191445-35191445 11:35169898-35169898
11 CD44 NM_000610.4(CD44):c.68-5908G>ASNV association 126873 rs3794110 11:35192214-35192214 11:35170667-35170667
12 CD44 NM_000610.4(CD44):c.68-5493C>TSNV association 126875 rs112762 11:35192629-35192629 11:35171082-35171082
13 CD44 NM_000610.4(CD44):c.234-905G>ASNV association 126876 rs3794105 11:35200916-35200916 11:35179369-35179369
14 CD44 NM_000610.4(CD44):c.923-767T>ASNV association 126877 rs7110737 11:35221862-35221862 11:35200315-35200315
15 CD44 NM_000610.4(CD44):c.2024+779A>GSNV association 126878 rs7116432 11:35244058-35244058 11:35222511-35222511
16 HAO1 NM_017545.2(HAO1):c.*697T>CSNV association 126880 rs6055363 20:7863543-7863543 20:7882896-7882896
17 HAO1 NM_017545.3(HAO1):c.814-2945A>GSNV association 126881 rs2294305 20:7869456-7869456 20:7888809-7888809
18 HAO1 NM_017545.3(HAO1):c.814-4211G>ASNV association 126882 rs2235250 20:7870722-7870722 20:7890075-7890075
19 HAO1 NM_017545.3(HAO1):c.721+1617G>CSNV association 126883 rs2294301 20:7885184-7885184 20:7904537-7904537
20 HAO1 NM_017545.3(HAO1):c.545+1171T>CSNV association 126884 rs2423326 20:7893640-7893640 20:7912993-7912993
21 HAO1 NM_017545.3(HAO1):c.290-1983G>ASNV association 126885 rs6118004 20:7897049-7897049 20:7916402-7916402
22 HAO1 NM_017545.3(HAO1):c.290-4862A>GSNV association 126886 rs2205818 20:7899928-7899928 20:7919281-7919281
23 HAO1 NM_017545.3(HAO1):c.289+8188C>TSNV association 126887 rs2142697 20:7906943-7906943 20:7926296-7926296
24 HAO1 NM_017545.3(HAO1):c.289+5965C>TSNV association 126888 rs6140463 20:7909166-7909166 20:7928519-7928519
25 HAO1 NM_017545.3(HAO1):c.289+2189G>CSNV association 126889 rs2235245 20:7912942-7912942 20:7932295-7932295
26 HAO1 NM_017545.3(HAO1):c.137+329T>CSNV association 126890 rs2255183 20:7920604-7920604 20:7939957-7939957
27 GRHPR NM_012203.2(GRHPR):c.103del (p.Asp35fs)deletion Pathogenic 5636 rs80356708 9:37424859-37424859 9:37424862-37424862
28 AGXT NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)SNV Pathogenic 5646 rs121908525 2:241814576-241814576 2:240875159-240875159
29 SLC26A1 NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu)SNV Pathogenic 242375 rs148832260 4:983654-983654 4:989866-989866
30 46;X;t(X;5)(q24;q13)dnTranslocation Pathogenic 267830
31 BRCA2 NM_000059.3(BRCA2):c.4936_4939del (p.Glu1646fs)deletion Pathogenic 37935 rs80359473 13:32913425-32913428 13:32339288-32339291
32 SLC12A1 NM_001184832.2(SLC12A1):c.1163del (p.Phe388fs)deletion Pathogenic/Likely pathogenic 265999 rs779588655 15:48527143-48527143 15:48234946-48234946
33 CLDN16 NM_006580.3(CLDN16):c.695T>G (p.Phe232Cys)SNV Pathogenic/Likely pathogenic 5931 rs104893726 3:190126205-190126205 3:190408416-190408416
34 ATP6V1B1 NM_001692.4(ATP6V1B1):c.242T>C (p.Leu81Pro)SNV Pathogenic/Likely pathogenic 12228 rs121964880 2:71185243-71185243 2:70958113-70958113
35 AGXT NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)SNV Pathogenic/Likely pathogenic 5644 rs121908523 2:241808403-241808403 2:240868986-240868986
36 AGXT NM_000030.3(AGXT):c.481G>A (p.Gly161Ser)SNV Pathogenic/Likely pathogenic 204105 rs180177227 2:241810823-241810823 2:240871406-240871406
37 SLC34A1 NM_003052.5(SLC34A1):c.644+1G>ASNV Pathogenic/Likely pathogenic 234926 rs201304511 5:176814875-176814875 5:177387874-177387874
38 SLC26A1 NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)SNV Pathogenic/Likely pathogenic 242374 rs139024319 4:984938-984938 4:991150-991150
39 CLDN19 NM_148960.3(CLDN19):c.535G>A (p.Gly179Ser)SNV Likely pathogenic 548672 rs145591298 1:43201640-43201640 1:42735969-42735969
40 AGXT NM_000030.3(AGXT):c.1079G>C (p.Arg360Pro)SNV Likely pathogenic 548671 rs180177161 2:241818138-241818138 2:240878721-240878721
41 SLC3A1 NM_000341.4(SLC3A1):c.592del (p.Ala198fs)deletion Likely pathogenic 548674 rs778000327 2:44508016-44508016 2:44280877-44280877
42 SLC34A1 NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg)SNV Likely pathogenic 548678 rs376131751 5:176823763-176823763 5:177396762-177396762
43 SLC34A1 NM_003052.5(SLC34A1):c.1724C>T (p.Thr575Ile)SNV Likely pathogenic 548679 rs201331677 5:176825091-176825091 5:177398090-177398090
44 GRHPR NM_012203.2(GRHPR):c.404+5G>ASNV Likely pathogenic 548673 rs757796926 9:37426656-37426656 9:37426659-37426659
45 SLC12A1 NM_001184832.2(SLC12A1):c.769G>A (p.Gly257Ser)SNV Likely pathogenic 548675 rs896545456 15:48521430-48521430 15:48229233-48229233
46 SLC12A1 NM_001184832.2(SLC12A1):c.1424G>A (p.Cys475Tyr)SNV Likely pathogenic 548676 rs1555466999 15:48537073-48537073 15:48244876-48244876
47 MT-CO3 NC_012920.1:m.9355A>TSNV Uncertain significance 523307 rs1556423663 MT:9355-9355 MT:9355-9355
48 SLC9A3R1 NM_004252.5(SLC9A3R1):c.673G>A (p.Glu225Lys)SNV Likely benign 5272 rs119486097 17:72759575-72759575 17:74763436-74763436

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 extracellular exosome GO:0070062 9.92 UMOD SPP1 SLC3A1 SLC12A1 GRHPR ATP6V1B1
2 cell GO:0005623 9.8 VDR SLC34A3 SLC34A1 SLC12A1 CLDN16 CASR
3 basolateral plasma membrane GO:0016323 9.46 UMOD SLC26A1 CASR ATP6V1B1
4 brush border membrane GO:0031526 9.13 SLC3A1 SLC34A3 SLC34A1
5 apical plasma membrane GO:0016324 9.1 UMOD SLC34A3 SLC34A1 SLC12A1 CASR ATP6V1B1

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 sodium ion transport GO:0006814 9.7 SLC34A3 SLC34A1 SLC12A1
2 ossification GO:0001503 9.67 SLC34A1 CASR ATP6V1B1
3 decidualization GO:0046697 9.54 VDR SPP1
4 potassium ion homeostasis GO:0055075 9.51 SLC12A1 ATP6V1B1
5 ion transport GO:0006811 9.5 SLC34A3 SLC34A1 SLC26A1 SLC12A1 CLDN16 CLCN5
6 chloride ion homeostasis GO:0055064 9.48 SLC12A1 ATP6V1B1
7 phosphate ion transport GO:0006817 9.46 SLC34A3 SLC34A1
8 chloride transmembrane transport GO:1902476 9.46 SLC26A1 SLC12A1 CLCN5 CASR
9 cellular nitrogen compound metabolic process GO:0034641 9.43 GRHPR AGXT
10 lactation GO:0007595 9.43 XDH VDR APRT
11 glyoxylate metabolic process GO:0046487 9.4 GRHPR AGXT
12 cellular phosphate ion homeostasis GO:0030643 9.37 SLC34A3 SLC34A1
13 sodium-dependent phosphate transport GO:0044341 9.32 SLC34A3 SLC34A1
14 excretion GO:0007588 9.02 UMOD GRHPR CLDN16 CLCN5 ATP6V1B1

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.63 XDH SLC34A1 GRHPR CASR AMBP AGXT
2 symporter activity GO:0015293 9.43 SLC34A3 SLC34A1 SLC12A1
3 amino acid binding GO:0016597 9.32 CASR AGXT
4 sodium:phosphate symporter activity GO:0005436 8.96 SLC34A3 SLC34A1
5 sodium-dependent phosphate transmembrane transporter activity GO:0015321 8.62 SLC34A3 SLC34A1

Sources for Nephrolithiasis, Calcium Oxalate

3 CDC
5