MCID: URL001
MIFTS: 46

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 Parathyroid hormone synthesis, secretion and action and Peroxisome. The drugs Potassium citrate and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include kidney, spinal cord and liver, 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 424)
# Related Disease Score Top Affiliating Genes
1 adenine phosphoribosyltransferase deficiency 32.5 XDH HOGA1 APRT AGXT
2 nephrolithiasis, uric acid 32.3 XDH SLC7A9 HOGA1 AGXT
3 hereditary xanthinuria 32.1 XDH APRT
4 ureterolithiasis 31.8 APRT AGXT
5 urinary tract infection 31.6 UMOD HOGA1
6 hyperparathyroidism 31.2 VDR CASR ALB
7 nephrolithiasis, calcium oxalate 31.2 VDR UMOD SPP1 SLC3A1 SLC26A1 CASR
8 acute cystitis 31.1 UMOD F2 ALB
9 hydronephrosis 30.9 XDH AMBP ALB
10 pyelonephritis 30.9 UMOD AMBP ALB
11 idiopathic hypercalciuria 30.8 VDR TRPV5 CASR
12 hyperuricemia 30.8 XDH UMOD ALB
13 cystinuria 30.8 XDH SLC7A9 SLC3A1 PREPL HOGA1 CASR
14 primary hyperparathyroidism 30.7 VDR CASR ALB AHSG
15 gout 30.7 XDH UMOD APRT ALB
16 acute kidney failure 30.6 UMOD F2 ALB
17 pyuria 30.6 F2 ALB
18 nephrocalcinosis 30.6 SPP1 SLC3A1 CASR AGXT
19 bone resorption disease 30.6 VDR SPP1 ALB
20 primary hyperoxaluria 30.5 SPP1 HOGA1 HAO1 AGXT
21 hypophosphatemia 30.5 VDR SPP1 ALB
22 xanthinuria 30.4 XDH SLC7A9 HOGA1 APRT AGXT
23 interstitial nephritis 30.3 UMOD APRT ALB
24 secondary hyperparathyroidism 30.3 VDR CASR ALB
25 chronic kidney disease 30.2 VDR UMOD SPP1 CASR ALB AHSG
26 vesicoureteral reflux 1 30.2 UMOD AMBP ALB
27 hyperphosphatemia 30.2 VDR SPP1 CASR ALB
28 rickets 30.0 VDR SPP1 CASR ALB
29 osteoporosis 29.9 VDR SPP1 GGCX CASR ALB AHSG
30 hypotonia-cystinuria syndrome 29.8 SLC7A9 SLC3A1 PREPL
31 glomerular disease 29.8 AMBP ALB
32 lower urinary tract calculus 29.8 SLC26A6 AGXT
33 hypervitaminosis d 29.8 VDR TRPV5
34 renal tuberculosis 29.7 SLC26A6 SLC26A1 AGXT
35 acute kidney tubular necrosis 29.7 UMOD F2 ALB
36 kidney disease 29.6 XDH VDR UMOD SPP1 CASR AMBP
37 calciphylaxis 29.5 VDR CASR ALB AHSG
38 end stage renal disease 29.5 VDR UMOD SPP1 CASR ALB AGXT
39 hypertensive nephropathy 29.5 AMBP ALB
40 uremia 29.4 VDR SPP1 CASR ALB AHSG
41 sialolithiasis 29.3 SLC26A6 SLC26A1 CASR
42 diabetes mellitus 29.1 VDR UMOD SPP1 F2 CASR AMBP
43 nephrolithiasis 29.0 XDH VDR UMOD TRPV5 SPP1 SLC3A1
44 type 2 diabetes mellitus 28.8 VDR SPP1 F2 CASR AMBP ALB
45 xanthinuria, type i 11.3
46 xanthinuria, type ii 11.2
47 hyperoxaluria, primary, type iii 11.1
48 hyperglycinuria 11.0
49 phosphoribosylpyrophosphate synthetase superactivity 11.0
50 urethral calculus 10.9

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 9.93 SLC26A6
2 Decreased viability GR00221-A-1 9.93 TRPV5
3 Decreased viability GR00221-A-4 9.93 TRPV5
4 Decreased viability GR00240-S-1 9.93 GGCX
5 Decreased viability GR00249-S 9.93 AGXT ALB APRT SLC26A6 SPP1 XDH
6 Decreased viability GR00301-A 9.93 TRPV5
7 Decreased viability GR00381-A-1 9.93 AGXT
8 Decreased viability GR00386-A-1 9.93 ALB AMBP HOGA1 UMOD VDR
9 Decreased viability GR00402-S-2 9.93 HOGA1 PREPL
10 Increased the percentage of infected cells GR00402-S-1 8.32 APRT

MGI Mouse Phenotypes related to Urolithiasis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 AGXT AHSG ALB APRT CASR F2
2 immune system MP:0005387 10.07 ALB APRT CASR F2 PREPL SLC26A1
3 digestive/alimentary MP:0005381 9.91 ALB CASR F2 SLC26A1 SLC26A6 TRPV5
4 muscle MP:0005369 9.81 AHSG ALB CASR F2 PREPL SLC3A1
5 renal/urinary system MP:0005367 9.8 AGXT ALB APRT CASR HOGA1 SLC26A1
6 skeleton MP:0005390 9.32 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 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Potassium citrate Approved, Investigational, Vet_approved Phase 4 866-84-2
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Morphine Approved, Investigational Phase 4 57-27-2 5288826
4
Allopurinol Approved Phase 4 315-30-0 2094
5
Meperidine Approved Phase 4 57-42-1 4058
6
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
7
Febuxostat Approved Phase 4 144060-53-7 134018
8
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
9
Ketorolac Approved Phase 4 74103-06-3, 66635-83-4 3826
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
11
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
12
Uric acid Investigational Phase 4 69-93-2 1175
13 Phosphodiesterase Inhibitors Phase 4
14 Phosphodiesterase 5 Inhibitors Phase 4
15 Vasodilator Agents Phase 4
16 Sildenafil Citrate Phase 4 171599-83-0
17 Respiratory System Agents Phase 4
18 diuretics Phase 4
19 Anticoagulants Phase 4
20 Chelating Agents Phase 4
21 Expectorants Phase 4
22 Vitamins Phase 4
23 Nutrients Phase 4
24 Micronutrients Phase 4
25 Trace Elements Phase 4
26 Hormones Phase 4
27 Calciferol Phase 4
28 Antioxidants Phase 4
29 Antipyretics Phase 4
30 Narcotics Phase 4
31 Analgesics, Opioid Phase 4
32 Protective Agents Phase 4
33 Antimetabolites Phase 4
34 Ergocalciferols Phase 4
35 Vitamin D2 Phase 4
36 Sodium Channel Blockers Phase 4
37 Diuretics, Potassium Sparing Phase 4
38 Anesthetics, Local Phase 4
39 Anti-Arrhythmia Agents Phase 4
40 Adrenergic alpha-1 Receptor Antagonists Phase 4
41 Adrenergic alpha-Antagonists Phase 4
42 Neurotransmitter Agents Phase 4
43 Adrenergic Antagonists Phase 4
44 Adrenergic Agents Phase 4
45 Anti-Inflammatory Agents Phase 4
46 Analgesics, Non-Narcotic Phase 4
47 Cyclooxygenase Inhibitors Phase 4
48 Anti-Inflammatory Agents, Non-Steroidal Phase 4
49 Analgesics Phase 4
50 Antirheumatic Agents Phase 4

Interventional clinical trials:

(show top 50) (show all 138)
# Name Status NCT ID Phase Drugs
1 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
2 Role of Phosphodiesterase 5 Inhibitors (PDE5i) (Sildenafil) in Management of Distal Ureteral Stone Unknown status NCT02519153 Phase 4 Sildenafil
3 Study of Tamsulosin for Urolithiasis in the Emergency Department Completed NCT00382265 Phase 4 tamsulosin
4 Randomized Controlled Trial of Ultrasound Versus CT (Computed Tomography) for Patients in the Emergency Department With Suspected Renal Colic Completed NCT01451931 Phase 4
5 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
6 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
7 The Predictors of Successful Oral Dissolution Therapy in Radiolucent Renal Stones; A Prospective Evaluation Completed NCT02373384 Phase 4 Oral alkalinization (Potassium citrate, Allopurinol)
8 Effect of Ergocalciferol Repletion on Urine Calcium Among Stone Formers With Vitamin D Deficiency and Hypercalciuria Completed NCT01295879 Phase 4 Ergocalciferol
9 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
10 Department of Urology, Shanghai Xu-hui Central Hospital Enrolling by invitation NCT04398251 Phase 4 Febuxostat 40mg Tab
11 A Prospective, Randomized Study to Evaluate the Safety and Effectiveness of Steerable Ureteroscopic Renal Evacuation(SURE)Using the CVAC™ Aspiration System Compared to Basketing for the Removal of Renal Calculi Following Laser Lithotripsy Not yet recruiting NCT04519294 Phase 4
12 Efectividad de la Tamsulosina Como Tratamiento Adyuvante Previo a Ureterolitotomia Endoscopica Terminated NCT03614052 Phase 4 Tamsulosin Hydrochloride 0.4 milligrams;Placebo Oral Tablet
13 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
14 Extracorporeal Shock Wave Lithotriptor Indicated for Fragmenting Urinary Stones in the Kidney (Renal Pelvis) Unknown status NCT00959153 Phase 3
15 Efficacy of Renalof in the Dissolution of Renal Calculi in Patients With Recurrent Calcic Lithiasis Completed NCT01022060 Phase 3
16 Perioperative Pregabalin as Part of a Multimodal Treatment Plan for Pain After Ureteroscopy With Stent Placement: a Pilot Completed NCT03927781 Phase 3 Pregabalin 300mg
17 Citrate Salts for Stone-free Result After Flexible Ureterorenoscopy for Inferior Calyx Calculi: a Randomized Placebo Controlled Trial Not yet recruiting NCT04021381 Phase 3
18 Effect of Cannabidiol Oil on Postoperative Pain After Ureteroscopy for Urinary Calculi Not yet recruiting NCT04387617 Phase 2, Phase 3 Cannabidiol;Placebo
19 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
20 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
21 Assessment of Bacterial Adherence and Biofilm Formation on a Triclosan Loaded Ureteral Stent: A Phase II Study Completed NCT00250406 Phase 2
22 Lime Powder Regimen Supplement Alleviates Urinary Metabolic Abnormalities to Prevent Urolithiasis Recurrence. Completed NCT03258190 Phase 2 Lime Powder Regimen
23 A Double-Blind, Placebo-Controlled Study of Silodosin to Facilitate Urinary Stone Passage Completed NCT01144949 Phase 2 silodosin;placebo
24 Efficacy and Safety of Renalof® in the Removal of Calculi Smaller Than 10 mm Located in the Reno-Ureteral Tract Completed NCT04695951 Phase 2
25 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
26 Prospective Randomized Controlled Trial for Pain Relief After Office Ureteral Stent Removal Completed NCT04112160 Phase 2 Ketorolac;normal saline
27 Pharmacological Therapy for Calcium Phosphate Urolithiasis Recruiting NCT01754779 Phase 2 Placebo;Indapamide
28 Toradol to Reduce Ureteroscopic Symptoms Trial Recruiting NCT03111381 Phase 2 Toradol
29 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
30 Double-blind, Placebo-controlled Randomized Controlled Trial of NSAID Prior to Ureteral Stent Removal in a Pediatric Population Unknown status NCT02140970 Ibuprofen;Placebo
31 Metabolic Evaluation of Urolithiasis: Comparison of 24-hour Collecting Urine Prior and After Stone Removal - a Prospective Study Unknown status NCT03846011
32 Prevalence of Pediatric Urolithiasis in Kashgar Area of Xinjiang in China: a Population and Ultrasonography Based Cross-sectional Study Unknown status NCT03003312
33 Ultrasound Non-contrast Computed Tomography Real-time Fusion for Urinary Stones Follow up Unknown status NCT02539004
34 Comparison of General Anaesthesia and Sedation on the Stone Fragmentation Efficacy of the Third Generation Lithotriptor Unknown status NCT01361516
35 The Effect of Vinegar Consumption on 24-hour Urinary Risk Factors Associated With Calcium Oxalate Urinary Stone Formation: a Randomised Controlled Trial Unknown status NCT02649140
36 Effect of Use of Ureteral Access Sheath on Blood and Urine Levels of Netrin-1 in Patients Undergoing Retrograde Intrarenal Surgery Unknown status NCT02533414
37 Multi-Center Comparison of Dual Lumen Versus Single Lumen Ureteroscopes Unknown status NCT02123082
38 Dusting vs Basketing in RIRS: a Single-center Prospective Randomised Trial Unknown status NCT03207659
39 Under Direct Vision Versus Under Non Direct Vision for The Efficacy and Safety Ureteral Access Sheath in RIRS for the Management of ≤20mm Size Kidney Stones: A Single-center Randomized Controlled Trial Unknown status NCT03717285
40 A Prospective Randomized Study Comparing Single-use Digital Flexible Ureteroscope, Nondisposable Fiber Optic and Digital Ureteroscope in Treatment of Upper Urinary Stone Less Than 2 cm Unknown status NCT03220516
41 Impact of Total Nephrectomy on Patients With Kidney Stone Unknown status NCT01235104
42 The Links Between Water and Salt Intake, Body Weight, Hypertension and Kidney Stones: a Difficult Puzzle Unknown status NCT01100580
43 Evaluation of Two Different Treatments for Lower Pore Renal Stone: Microperc Vs FURS Unknown status NCT03307096
44 Etiological Diagnosis of Urinary Stone in Chinese Children Unknown status NCT02949323
45 Hydro II: Emergency Department Ultrasound in Renal Colic Completed NCT01323842
46 Management of Ureteral Calculi Using Ultrasound Guidance: A Radiation Free Approach Completed NCT01792765
47 Oral Antibiotic Treatment of Helicobacter Pylori Reduces Intestinal Colonization Rates With Oxalobacter Formigenes Completed NCT01300039
48 Cystine Capacity Clinical Study (CysCap) Completed NCT02120105
49 Emergency Department Targeted Ultrasound for the Detection of Hydronephrosis Completed NCT00555308
50 Comparison Between Two Shock Wave Regimens Using Frequencies of 60 and 90 Impulses Per Minute for Urinary Stones Completed NCT01222325

Search NIH Clinical Center for Urolithiasis

Genetic Tests for Urolithiasis

Anatomical Context for Urolithiasis

MalaCards organs/tissues related to Urolithiasis:

40
Kidney, Spinal Cord, Liver, Bone, Prostate, Neutrophil, Heart

Publications for Urolithiasis

Articles related to Urolithiasis:

(show top 50) (show all 7609)
# 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]. 61 54
18409532 2008
5
Association of vitamin D receptor gene Taq I polymorphism with recurrent urolithiasis in children. 61 54
18036039 2007
6
Xanthine urolithiasis in a cat: a case report and evaluation of a candidate gene for xanthine dehydrogenase. 54 61
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. 61 54
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. 61 54
16284878 2005
12
Intracrystalline proteins and urolithiasis: a comparison of the protein content and ultrastructure of urinary calcium oxalate monohydrate and dihydrate crystals. 61 54
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. 61 54
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. 54 61
12920632 2003
19
[2,8-dihydoroxyadenine (DHA) urolithiasis: a case report]. 61 54
14518391 2003
20
Decreased renal vitamin K-dependent gamma-glutamyl carboxylase activity in calcium oxalate calculi patients. 54 61
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. 54 61
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. 54 61
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. 54 61
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. 61 54
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. 54 61
8455250 1993
44
Adenine phosphoribosyltransferase deficiency with renal deposition of 2,8-dihydroxyadenine leading to nephrolithiasis and chronic renal failure. 54 61
8447714 1993
45
Application of polymerase chain reaction-single strand conformation polymorphism analysis to the diagnosis and screening of adenine phosphoribosyltransferase deficiency. 54 61
8503153 1993
46
Molecular bases for hereditary cancer-prone diseases. 61 54
1293155 1992
47
[Detection of the mutation responsible for adenine phosphoribosyltransferase deficiency among Japanese patients]. 61 54
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 11.52 VDR TRPV5 CASR
2 11.05 XDH HAO1 AGXT
3 10.46 TRPV5 SPP1
4 10.33 GGCX F2
5 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 endoplasmic reticulum lumen GO:0005788 9.62 SPP1 F2 ALB AHSG
2 basolateral plasma membrane GO:0016323 9.56 UMOD SLC26A6 SLC26A1 CASR
3 apical plasma membrane GO:0016324 9.35 UMOD TRPV5 SLC7A9 SLC26A6 CASR
4 brush border membrane GO:0031526 9.33 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 15)
# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.73 SPP1 F2 ALB AHSG
2 cellular calcium ion homeostasis GO:0006874 9.7 VDR UMOD CASR
3 ossification GO:0001503 9.69 SPP1 CASR AHSG
4 chloride transmembrane transport GO:1902476 9.67 SLC26A6 SLC26A1 CASR
5 sulfate transmembrane transport GO:1902358 9.55 SLC26A6 SLC26A1
6 sulfate transport GO:0008272 9.54 SLC26A6 SLC26A1
7 intestinal absorption GO:0050892 9.48 VDR SLC26A6
8 oxalate transport GO:0019532 9.46 SLC26A6 SLC26A1
9 lactation GO:0007595 9.43 XDH VDR APRT
10 cellular nitrogen compound metabolic process GO:0034641 9.4 HAO1 AGXT
11 glyoxylate metabolic process GO:0046487 9.37 HOGA1 AGXT
12 pyruvate biosynthetic process GO:0042866 9.32 HOGA1 AGXT
13 regulation of urine volume GO:0035809 9.16 UMOD TRPV5
14 L-cystine transport GO:0015811 8.96 SLC7A9 SLC3A1
15 glyoxylate catabolic process GO:0009436 8.62 HOGA1 AGXT

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

# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transporter activity GO:0015108 9.37 SLC26A6 SLC26A1
2 bicarbonate transmembrane transporter activity GO:0015106 9.32 SLC26A6 SLC26A1
3 sulfate transmembrane transporter activity GO:0015116 9.26 SLC26A6 SLC26A1
4 secondary active sulfate transmembrane transporter activity GO:0008271 9.16 SLC26A6 SLC26A1
5 oxalate transmembrane transporter activity GO:0019531 8.96 SLC26A6 SLC26A1
6 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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