MCID: URL001
MIFTS: 45

Urolithiasis

Categories: Nephrological diseases

Aliases & Classifications for Urolithiasis

MalaCards integrated aliases for Urolithiasis:

Name: Urolithiasis 12 54 15 32

Classifications:



External Ids:

Disease Ontology 12 DOID:0080653
ICD10 32 N20-N23

Summaries for Urolithiasis

Disease Ontology : 12 A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract.

MalaCards based summary : Urolithiasis is related to adenine phosphoribosyltransferase deficiency and nephrolithiasis, uric acid. An important gene associated with Urolithiasis is APRT (Adenine Phosphoribosyltransferase), and among its related pathways/superpathways are Peroxisome and Warfarin Pathway, Pharmacodynamics. The drugs Alfuzosin and Nefopam have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and testes, and related phenotypes are Decreased viability and Decreased viability

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

Related Diseases for Urolithiasis

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

(show top 50) (show all 411)
# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 33.6 XDH HOGA1 APRT AGXT
2 nephrolithiasis, uric acid 33.5 XDH SLC7A9 SLC3A1 PRPS1 HOGA1
3 hereditary xanthinuria 33.1 XDH APRT
4 lesch-nyhan syndrome 32.7 XDH PRPS1 APRT
5 cystinuria 32.2 SLC7A9 SLC3A1 PREPL HOGA1 AGXT
6 nephrolithiasis, calcium oxalate 31.8 VDR UMOD SPP1 SLC26A1 CASR APRT
7 hyperparathyroidism 31.2 VDR CASR ALB
8 acute cystitis 31.1 UMOD F2 ALB
9 primary hyperparathyroidism 31.0 VDR CASR ALB
10 xanthinuria 31.0 XDH SLC7A9 HOGA1 APRT
11 idiopathic hypercalciuria 30.8 VDR CASR
12 hydronephrosis 30.7 XDH AMBP ALB
13 pyuria 30.6 F2 ALB
14 pyelonephritis 30.6 UMOD AMBP ALB
15 hypophosphatemia 30.6 VDR SPP1 ALB
16 hyperuricemia 30.5 XDH UMOD PRPS1 ALB
17 primary hyperoxaluria 30.5 SPP1 HOGA1 HAO1 AGXT
18 acute kidney failure 30.5 UMOD F2 ALB
19 gout 30.3 XDH UMOD PRPS1 APRT ALB
20 bone resorption disease 30.3 VDR SPP1 CASR ALB
21 interstitial nephritis 30.3 UMOD APRT ALB
22 secondary hyperparathyroidism 30.3 VDR CASR ALB
23 hypotonia-cystinuria syndrome 30.2 SLC7A9 SLC3A1 PREPL
24 sialolithiasis 30.1 SLC26A6 SLC26A1
25 hyperphosphatemia 30.1 VDR SPP1 CASR ALB
26 rickets 30.0 VDR SPP1 CASR ALB
27 obstructive nephropathy 29.9 SPP1 AMBP ALB
28 vesicoureteral reflux 1 29.8 UMOD AMBP ALB
29 chronic kidney disease 29.6 VDR UMOD SPP1 CASR ALB AHSG
30 hypertensive nephropathy 29.5 AMBP ALB
31 calciphylaxis 29.4 VDR SPP1 CASR ALB AHSG
32 uremia 29.4 VDR SPP1 CASR ALB AHSG
33 nephrocalcinosis 29.0 XDH UMOD SPP1 SLC3A1 SLC26A1 HOGA1
34 kidney disease 28.8 XDH VDR UMOD SPP1 CASR AMBP
35 nephrolithiasis 28.5 XDH VDR UMOD SPP1 SLC7A9 SLC3A1
36 diabetes mellitus 28.2 VDR UMOD SPP1 F2 CASR AMBP
37 urolithiasis, uric acid, autosomal dominant 12.2
38 xanthinuria, type i 12.1
39 xanthinuria, type ii 11.9
40 ureterolithiasis 11.7
41 hyperoxaluria, primary, type iii 11.7
42 urethral calculus 11.7
43 hypouricemia, renal, 1 11.5
44 hyperglycinuria 11.3
45 phosphoribosylpyrophosphate synthetase superactivity 11.3
46 dent disease 1 11.2
47 nephrolithiasis, x-linked recessive, with renal failure 11.2
48 x-linked nephrolithiasis type i 11.2
49 5-oxoprolinase deficiency 11.1
50 bladder calculus 10.7

Graphical network of the top 20 diseases related to Urolithiasis:



Diseases related to Urolithiasis

Symptoms & Phenotypes for Urolithiasis

GenomeRNAi Phenotypes related to Urolithiasis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 9.89 SLC26A6
2 Decreased viability GR00221-A-1 9.89 PRPS1
3 Decreased viability GR00240-S-1 9.89 GGCX
4 Decreased viability GR00249-S 9.89 AGXT ALB APRT SLC26A6 SPP1 XDH
5 Decreased viability GR00381-A-1 9.89 AGXT
6 Decreased viability GR00386-A-1 9.89 ALB AMBP HOGA1 UMOD VDR
7 Decreased viability GR00402-S-2 9.89 HOGA1 PREPL
8 Increased the percentage of infected cells GR00402-S-1 8.32 APRT

MGI Mouse Phenotypes related to Urolithiasis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.22 AGXT AHSG ALB APRT CASR F2
2 immune system MP:0005387 10 ALB APRT CASR F2 SLC26A1 SLC3A1
3 renal/urinary system MP:0005367 9.77 AGXT ALB APRT CASR HOGA1 SLC26A1
4 muscle MP:0005369 9.76 AHSG ALB CASR PREPL SLC3A1 SPP1
5 skeleton MP:0005390 9.28 AHSG CASR F2 GGCX PREPL SLC3A1

Drugs & Therapeutics for Urolithiasis

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

(show top 50) (show all 165)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfuzosin Approved, Investigational Phase 4 81403-80-7 2092
2
Nefopam Approved, Investigational Phase 4 13669-70-0
3
Tranexamic Acid Approved Phase 4 1197-18-8 5526
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
6
Acetaminophen Approved Phase 4 103-90-2 1983
7
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
8
Meperidine Approved Phase 4 57-42-1 4058
9
Calcium carbonate Approved, Investigational Phase 4 471-34-1
10
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
11
Febuxostat Approved Phase 4 144060-53-7 134018
12
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
13
Ketorolac Approved Phase 4 66635-83-4, 74103-06-3 3826
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
15
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
16 Phosphodiesterase Inhibitors Phase 4
17 Phosphodiesterase 5 Inhibitors Phase 4
18 Vasodilator Agents Phase 4
19 Sildenafil Citrate Phase 4 171599-83-0
20 Hemostatics Phase 4
21 Antifibrinolytic Agents Phase 4
22 Coagulants Phase 4
23 Adrenergic Agents Phase 4
24 Neurotransmitter Agents Phase 4
25 Hormones Phase 4
26 Antipyretics Phase 4
27 Anticoagulants Phase 4
28 Analgesics, Opioid Phase 4
29 Gastrointestinal Agents Phase 4
30 Trace Elements Phase 4
31 Micronutrients Phase 4
32 Vitamins Phase 4
33 Nutrients Phase 4
34 Calciferol Phase 4
35 Chelating Agents Phase 4
36 Narcotics Phase 4
37 Cholinergic Agents Phase 4
38 Muscarinic Antagonists Phase 4
39 Tolterodine tartrate Phase 4 124937-52-6
40 Cholinergic Antagonists Phase 4
41 Ergocalciferols Phase 4
42 Vitamin D2 Phase 4
43 Sodium Channel Blockers Phase 4
44 Anti-Arrhythmia Agents Phase 4
45 Diuretics, Potassium Sparing Phase 4
46 Anesthetics, Local Phase 4
47 Antacids Phase 4
48 Anti-Ulcer Agents Phase 4
49 Calcium Supplement Phase 4
50 Expectorants Phase 4

Interventional clinical trials:

(show top 50) (show all 167)
# Name Status NCT ID Phase Drugs
1 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
2 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)
3 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
4 The Efficacy of Alpha-blockers for Expulsion of Distal Ureteral Stones Unknown status NCT00451061 Phase 4 Alfuzosin;Tamsulosin
5 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
6 Randomized Controlled Trial of Ultrasound Versus CT (Computed Tomography) for Patients in the Emergency Department With Suspected Renal Colic Completed NCT01451931 Phase 4
7 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
8 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
9 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
10 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
11 Combination Versus Monotherapy With Alpha Blocker and Anticholinergics to Relieve Urinary Stent Symptoms Completed NCT01741454 Phase 4 Tamsulosin;Tolterodine ER
12 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
13 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
14 CALCIUM CITRATE vs CALCIUM CARBONATE FOR THE MANAGEMENT OF CHRONIC HYPOPARATHYROIDISM Completed NCT03425747 Phase 4 Calcium Carbonate;Calcium Citrate
15 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
16 Department of Urology, Shanghai Xu-hui Central Hospital Enrolling by invitation NCT04398251 Phase 4 Febuxostat 40mg Tab
17 Efectividad de la Tamsulosina Como Tratamiento Adyuvante Previo a Ureterolitotomia Endoscopica Terminated NCT03614052 Phase 4 Tamsulosin Hydrochloride 0.4 milligrams;Placebo Oral Tablet
18 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
19 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney (Renal Pelvis) Unknown status NCT00959153 Phase 3
20 Evaluation of Alfuzosin as Medical Expulsion Therapy for Ureteral Stones Unknown status NCT00713739 Phase 3 Alfuzosin;nifedipine;doxazosin;prazosin
21 Efficacy of Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
22 Calcium for Pre-Eclampsia Prevention (CPEP) Completed NCT00000534 Phase 3 calcium
23 Lanthanum Carbonate (Fosrenol®) to Reduce Oxalate Excretion in Patients With Secondary Hyperoxaluria and Nephrolithiasis: a Short-term, Prospective, Open-label, Efficacy and Safety Clinical Trial Recruiting NCT03346369 Phase 3 Lanthanum Carbonate
24 Effects of Allopurinol on Inflammatory Markers and Morphostructural Changes Evidenced by Musculoskeletal Ultrasound in Individuals With Asymptomatic Hyperuricemia. A Proof of Concept Recruiting NCT04012294 Phase 3 Allopurinol Pill
25 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Active, not recruiting NCT03927781 Phase 3 Pregabalin 300mg
26 Citrate Salts for Stone-free Result After Flexible Ureterorenoscopy for Inferior Calyx Calculi: a Randomized Placebo Controlled Trial Not yet recruiting NCT04021381 Phase 3
27 Effect of Cannabidiol Oil on Postoperative Pain After Ureteroscopy for Urinary Calculi Not yet recruiting NCT04387617 Phase 2, Phase 3 Cannabidiol;Placebo
28 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Ureteral Stent Symptoms After : a Randomized Controlled Trial Not yet recruiting NCT04122196 Phase 2, Phase 3 Pregabalin 300mg;Placebo oral tablet
29 A Randomized Controlled Trial Assessing the Efficacy of Antimicrobial Prophylaxis for Extracorporeal Shock Wave Lithotripsy on Reducing Urinary Tract Infection Terminated NCT01873690 Phase 3 Ciprofloxacin;Placebo
30 Prospective Randomized Placebo Controlled Blinded Study to Evaluate the Efficacy of Alfuzosin (Alpha Blocker) on the Success Rates Following SWL. Unknown status NCT00409227 Phase 2 Alpha blocker-alfuzosin;placebo
31 A Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Effect of Adjuvant Treatment With Compound Cranberry Extract Tablets (UmayC) in Acute Bacterial Cystitis. Unknown status NCT00305071 Phase 2 compound cranberry extract tablet
32 Lime Powder Regimen Supplement Alleviates Urinary Metabolic Abnormalities to Prevent Urolithiasis Recurrence. Completed NCT03258190 Phase 2 Lime Powder Regimen
33 A Double-Blind, Placebo-Controlled Study of Silodosin to Facilitate Urinary Stone Passage Completed NCT01144949 Phase 2 silodosin;placebo
34 PILOTSTUDIE ZUR PYRIDOXALPHOSPHATTHERAPIE BEI PATIENTEN MIT PRIMÄRER HYPEROXALURIE TYP I (PHOX-B6-PILOT) Pilot Trial on Treatment of Patients With Primary Hyperoxaluria Type I With Pyridoxal-phosphate Completed NCT01281878 Phase 2 Vitamin B 6
35 Assessment of Bacterial Adherence and Biofilm Formation on a Triclosan Loaded Ureteral Stent: A Phase II Study Completed NCT00250406 Phase 2
36 Double-Blind, Placebo-Controlled, Concentration-Escalating, Pharmacokinetic Study Evaluating the Systemic Absorption, Safety, and Efficacy of OMS201 in Subjects Undergoing Ureteroscopic Treatment of Ureteral- or Renal Collecting System-Located Stones Completed NCT00857090 Phase 1, Phase 2 OMS201;Vehicle
37 Use of Oral Probiotics to Reduce Urinary Oxalate Excretion Completed NCT00587041 Phase 1, Phase 2
38 Phase II, Dose-Response, Safety and Efficacy Study of Oral TMX-67 in Subjects With Gout. Completed NCT00174967 Phase 2 Placebo;Febuxostat;Febuxostat;Febuxostat
39 Prospective Randomized Controlled Trial for Pain Relief After Office Ureteral Stent Removal Completed NCT04112160 Phase 2 Ketorolac;normal saline
40 UTI Prophylaxis Using Bacterial Interference Following SCI Completed NCT00037921 Phase 2
41 A Randomized, Double-blind, Placebo-controlled, Dose-ranging Trial of Oral Inosine to Assess Safety and Ability to Elevate Urate in Early Parkinson's Disease Completed NCT00833690 Phase 2 Placebo;inosine;inosine
42 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
43 Toradol to Reduce Ureteroscopic Symptoms Trial Recruiting NCT03111381 Phase 2 Toradol
44 Treatment of Renal Stones With Frankincense (Boswellic Acid): A Clinical Randomized Trial Not yet recruiting NCT03924596 Phase 1, Phase 2 AKBA-Incense (3-acetyl-11-keto-ß-boswellic acid);Potassium Sodium Hydrogen Citrate
45 A Multi-Site Placebo-Controlled Randomized Double-Blind Study to Evaluate the Efficacy and Safety of Using MPC-5971 as Adjuvant Therapy in Subjects Undergoing Shock Wave Lithotripsy Terminated NCT00860093 Phase 2 MPC-5971
46 Double-Blind, Placebo-Controlled, Two-Center, Pharmacokinetic Study Evaluating the Systemic Absorption and Safety of OMS201 in Subjects Undergoing Ureteroscopic Treatment of Unilateral Ureteral- or Renal Collecting System-Located Stones Completed NCT00599664 Phase 1 OMS201;Vehicle
47 Impact of Total Nephrectomy on Patients With Kidney Stone Unknown status NCT01235104
48 Ultrasound Non-contrast Computed Tomography Real-time Fusion for Urinary Stones Follow up Unknown status NCT02539004
49 Comparison of General Anaesthesia and Sedation on the Stone Fragmentation Efficacy of the Third Generation Lithotriptor Unknown status NCT01361516
50 Prevalence of Pediatric Urolithiasis in Kashgar Area of Xinjiang in China: a Population and Ultrasonography Based Cross-sectional Study Unknown status NCT03003312

Search NIH Clinical Center for Urolithiasis

Genetic Tests for Urolithiasis

Anatomical Context for Urolithiasis

MalaCards organs/tissues related to Urolithiasis:

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

Publications for Urolithiasis

Articles related to Urolithiasis:

(show top 50) (show all 7364)
# Title Authors PMID Year
1
The impact of osteopontin promoter polymorphisms on the risk of calcium urolithiasis. 61 54
20144595 2010
2
Genetic mutation of vitamin K-dependent gamma-glutamyl carboxylase domain in patients with calcium oxalate urolithiasis. 54 61
19821094 2009
3
High calcium concentration and calcium oxalate crystals cause significant inaccuracies in the measurement of urinary osteopontin by enzyme linked immunosorbent assay. 61 54
18478219 2008
4
[Adenine phosphoribosyltransferase deficiency and its purine metabolism]. 54 61
18409532 2008
5
Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children. 54 61
18036039 2007
6
Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. 61 54
17576085 2007
7
Urinary concentration of osteopontin and association with urinary supersaturation and crystal formation. 54 61
17645608 2007
8
Association of vitamin D receptor (Fok-I) polymorphism with the clinical presentation of calcium urolithiasis. 54 61
17419705 2007
9
[Alterations in bone mineral metabolism in patients with calcium kidney stone disease and polymorphism of vitamin D receptor. Preliminary results]. 54 61
18336098 2007
10
Vitamin D receptor gene polymorphisms in patients with urolithiasis. 54 61
16397775 2006
11
The role of preemptive liver transplantation in primary hyperoxaluria type 1. 54 61
16284878 2005
12
Intracrystalline proteins and urolithiasis: a comparison of the protein content and ultrastructure of urinary calcium oxalate monohydrate and dihydrate crystals. 54 61
16104927 2005
13
A simple procedure for isolating microgram quantities of biologically active bikunin from human urine. 54 61
16104926 2005
14
Vitamin-D receptor (VDR) gene (Fok-I, Taq-I and Apa-I) polymorphisms in healthy individuals from north Indian population. 61 54
16101324 2005
15
The diagnostic role of urinary N-acetyl-beta-D-glucosaminidase (NAG) activity in the detection of renal tubular impairment. 61 54
16259316 2005
16
Four consecutive renal transplantations in a patient with adenine phosphoribosyltransferase deficiency. 54 61
15077874 2004
17
Tamm-Horsfall glycoprotein: biology and clinical relevance. 61 54
14520616 2003
18
Urinary NAG in children with urolithiasis, nephrocalcinosis, or risk of urolithiasis. 61 54
12920632 2003
19
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]. 54 61
14518391 2003
20
Decreased renal vitamin K-dependent gamma-glutamyl carboxylase activity in calcium oxalate calculi patients. 61 54
12875724 2003
21
Levels of urinary inter-alpha-trypsin inhibitor trimer as a function of age and sex-hormone status in males and females not forming stones. 61 54
12230607 2002
22
Association of vitamin D receptor gene polymorphism with urolithiasis. 61 54
11956476 2002
23
Excretion of bikunin and its fragments in the urine of patients with renal stones. 54 61
11435884 2001
24
2,8-Dihydroxyadenine urolithiasis in a patient with considerable residual adenine phosphoribosyltransferase activity in cell extracts but with mutations in both copies of APRT. 54 61
11243733 2001
25
Association of the vitamin D receptor gene start codon Fok I polymorphism with calcium oxalate stone disease. 61 54
11167636 2001
26
No association of vitamin D receptor gene BsmI polymorphisms with calcium oxalate stone formation. 54 61
11689145 2001
27
Evaluation of the calcium-sensing receptor gene in idiopathic hypercalciuria and calcium nephrolithiasis. 54 61
10886547 2000
28
Analysis of osteopontin DNA in patients with urolithiasis. 61 54
10929424 2000
29
Is there a role for uric acid in an animal model of calcium phosphate nephrocalcinosis and calcium phosphate crystallization in urine of patients with idiopathic calcium urolithiasis? An orientational study. 61 54
10608515 1999
30
Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. 54 61
10479485 1999
31
Quantification of osteopontin in the urine of healthy and stone-forming men. 61 54
10460890 1999
32
[2,8-dihydroxyadenine urolithiasis due to partial deficiency of adenine phosphoribosyltransferase: a case report]. 61 54
9850838 1998
33
Inter-alpha-inhibitor in calcium stones. 54 61
9680501 1998
34
A germline mutation abolishing the original stop codon of the human adenine phosphoribosyltransferase (APRT) gene leads to complete loss of the enzyme protein. 54 61
9521589 1998
35
N-acetyl-beta-D-glucosaminidase excretion in healthy children and in pediatric patients with urolithiasis. 61 54
9870291 1998
36
Decreased Tamm-Horsfall protein in lithiasic patients. 54 61
9056112 1997
37
N-acetyl-beta-D-glucosaminidase excretion in calcium oxalate stone patients and its relation to the risk of stone formation. 61 54
9008022 1996
38
A fast and simple screening method for detection of 2,8-dihydroxyadenine urolithiasis by capillary zone electrophoresis. 54 61
8646818 1996
39
Ultrastructural immunodetection of osteopontin and osteocalcin as major matrix components of renal calculi. 54 61
8619372 1995
40
Adenine phosphoribosyltransferase deficiency identified by urinary sediment analysis: cellular and molecular confirmation. 54 61
8825602 1995
41
Detection of the three common mutations of adeninephosphoribosyltransferase deficiency among Japanese. 61 54
7758207 1995
42
Scanning electron microscopy of 2,8-dihydroxyadenine crystals and stones. 61 54
8146608 1993
43
A case of a compound heterozygote for adenine phosphoribosyltransferase deficiency (APRT*J/APRT*Q0) leading to 2,8-dihydroxyadenine urolithiasis: review of the reported cases with 2,8-dihydroxyadenine stones in Japan. 61 54
8455250 1993
44
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. 54 61
8503153 1993
45
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. 54 61
8447714 1993
46
Molecular bases for hereditary cancer-prone diseases. 54 61
1293155 1992
47
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. 54 61
1307610 1992
48
[Detection of mutant adenine phosphoribosyltransferase genes by polymerase chain reaction-single strand conformation polymorphism analysis]. 54 61
1632317 1992
49
2,8-Dihydroxyadenine urolithiasis due to partial deficit in adenine phosphoribosyltransferase: a case report. 61 54
1609669 1992
50
Effect of extracorporeal shockwave lithotripsy for urolithiasis on concentrations of creatine kinase isozymes in patient serum and urine. 61 54
1413305 1992

Variations for Urolithiasis

Expression for Urolithiasis

Search GEO for disease gene expression data for Urolithiasis.

Pathways for Urolithiasis

Pathways related to Urolithiasis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.05 XDH HAO1 AGXT
2 10.33 GGCX F2
3 10.28 HOGA1 HAO1 AGXT

GO Terms for Urolithiasis

Cellular components related to Urolithiasis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.92 UMOD SPP1 SLC3A1 F2 APRT AMBP
2 endoplasmic reticulum lumen GO:0005788 9.56 SPP1 F2 ALB AHSG
3 basolateral plasma membrane GO:0016323 9.46 UMOD SLC26A6 SLC26A1 CASR
4 brush border membrane GO:0031526 9.13 SLC7A9 SLC3A1 SLC26A6
5 blood microparticle GO:0072562 8.92 F2 AMBP ALB AHSG

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.73 SPP1 F2 ALB AHSG
2 ossification GO:0001503 9.7 SPP1 CASR AHSG
3 chloride transmembrane transport GO:1902476 9.67 SLC26A6 SLC26A1 CASR
4 sulfate transport GO:0008272 9.54 SLC26A6 SLC26A1
5 sulfate transmembrane transport GO:1902358 9.51 SLC26A6 SLC26A1
6 intestinal absorption GO:0050892 9.48 VDR SLC26A6
7 oxalate transport GO:0019532 9.46 SLC26A6 SLC26A1
8 lactation GO:0007595 9.43 XDH VDR APRT
9 cellular nitrogen compound metabolic process GO:0034641 9.4 HAO1 AGXT
10 glyoxylate metabolic process GO:0046487 9.37 HOGA1 AGXT
11 pyruvate biosynthetic process GO:0042866 9.32 HOGA1 AGXT
12 L-cystine transport GO:0015811 9.16 SLC7A9 SLC3A1
13 glyoxylate catabolic process GO:0009436 8.96 HOGA1 AGXT
14 oxalic acid secretion GO:0046724 8.62 SLC26A6 AGXT

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

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.43 XDH PRPS1 HOGA1 CASR AMBP AGXT
2 sulfate transmembrane transporter activity GO:0015116 9.4 SLC26A6 SLC26A1
3 chloride transmembrane transporter activity GO:0015108 9.37 SLC26A6 SLC26A1
4 bicarbonate transmembrane transporter activity GO:0015106 9.32 SLC26A6 SLC26A1
5 secondary active sulfate transmembrane transporter activity GO:0008271 9.26 SLC26A6 SLC26A1
6 oxalate transmembrane transporter activity GO:0019531 9.16 SLC26A6 SLC26A1
7 L-cystine transmembrane transporter activity GO:0015184 8.62 SLC7A9 SLC3A1

Sources for Urolithiasis

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
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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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