Urinary bladder disorder
diseaseOn this page
Also known as bladder diseasebladder disorderdisease of urinary bladderdisease or disorder of urinary bladderdisorder of urinary bladderurinary bladder diseaseurinary bladder disease or disorder
Summary
Urinary bladder disorder (MONDO:0006026) is a disease (an umbrella term covering 17 Mondo subtypes) with 9 GWAS associations across 28 studies and 48 clinical trials. Top therapeutic interventions include solifenacin, amitriptyline, and mirabegron. A subtype of urinary system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 17 Mondo subtypes
- GWAS associations: 9
- Clinical trials: 48
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | urinary bladder disorder |
| Mondo ID | MONDO:0006026 |
| EFO | EFO:1000018 |
| MeSH | D001745 |
| DOID | DOID:365 |
| NCIT | C2900 |
| SNOMED CT | 42643001 |
| UMLS | C0005686 |
| MedGen | 2278 |
| Anatomy (UBERON) | UBERON:0001255 |
| Is cancer (heuristic) | no |
Also known as: bladder disease · bladder disorder · disease of urinary bladder · disease or disorder of urinary bladder · disorder of urinary bladder · urinary bladder disease · urinary bladder disease or disorder · urinary bladder disorder
Data availability: 9 GWAS associations (28 studies).
Disease family
This is a subtype of urinary system disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › urinary bladder disorder
Related subtypes (19): bacteriuria, ureteral disorder, pyuria, urinary tract obstruction, urethral disorder, kidney disorder, hyperglycinuria, hypercalciuria, absorptive, 2, hypercalciuria, absorptive, 1, megacystis-megaureter syndrome, postorgasmic illness syndrome, congenital urachal anomaly, urinary system neoplasm, urothelial hyperplasia, urolithiasis, urinary tract infection, meningitis-retention syndrome, paraneoplastic renal syndrome, idiopathic hypercalciuria
Subtypes (17): low compliance bladder, detrusor sphincter dyssynergia, female stress incontinence, urinary bladder tuberculosis, urinary bladder neoplasm, urinary schistosomiasis, vesicoureteral reflux, cystitis, overactive bladder, bladder calculus, bladder neck obstruction, postcholecystectomy syndrome, ureterolithiasis, bladder diverticulum, ureterocele, Hinman syndrome, disorder of neck of urinary bladder
Genetics & variants
GWAS landscape
9 GWAS associations across 28 studies. Top hits map to 1 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr5:1324006 | 3e-11 | A | 0.07 | |
| chr10:121287359 | 1e-09 | C | 0.07 | |
| rs116060946 | 5e-09 | RNU6-471P - RPL8P1 | A | 0.69 |
| chr6:26833549 | 1e-08 | A | 0.1 | |
| rs563885038 | 2e-08 | ZNF385B | A | 8.55 |
| rs148857558 | 5e-08 | SLC6A1 - HRH1 | ? | |
| chr5:169084462 | 5e-08 | A | 2.29 | |
| rs144575177 | 1e-07 | RPL23AP54 - RN7SKP159 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478574 | Verma A | 2024 | 27,389 | 402,496 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90474203 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 20,850 | 437,590 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667801 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 20,850 | 437,590 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90080607 | Backman JD | 2021 | 10,863 | 375,390 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084593 | Backman JD | 2021 | 10,863 | 375,390 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436443 | Zhou W | 2018 | 9,933 | 394,699 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90080605 | Backman JD | 2021 | 7,761 | 380,142 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084591 | Backman JD | 2021 | 7,761 | 380,142 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90478573 | Verma A | 2024 | 6,433 | 109,886 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480896 | Verma A | 2024 | 6,433 | 109,886 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
Variant details and genetic-evidence tiers
Tier distribution (top 50 variants)
| Tier | Variants |
|---|---|
| Tier 1: coding | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 8 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 1 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 6 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 4 |
| intergenic_variant | 2 |
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr5:1324006 | 3e-11 | Tier 4: intronic/intergenic | ||||||
| chr10:121287359 | 1e-09 | Tier 4: intronic/intergenic | ||||||
| rs116060946 | 6 | 27647022 | G>A,C,T | 0.05 | intergenic_variant | RNU6-471P - RPL8P1 | 5e-09 | Tier 4: intronic/intergenic |
| chr6:26833549 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| rs563885038 | 2 | 179570494 | G>A,C | 0.002 | intron_variant | ZNF385B | 2e-08 | Tier 4: intronic/intergenic |
| rs148857558 | 3 | 11062941 | G>A | intron_variant | SLC6A1 - HRH1 | 5e-08 | Tier 4: intronic/intergenic | |
| chr5:169084462 | 5e-08 | Tier 4: intronic/intergenic | ||||||
| rs144575177 | 8 | 5688170 | A>C | intergenic_variant | RPL23AP54 - RN7SKP159 | 1e-07 | Tier 4: intronic/intergenic |
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 48.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 29 |
| PHASE2 | 7 |
| PHASE3 | 6 |
| PHASE1/PHASE2 | 4 |
| PHASE4 | 1 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01930799 | PHASE4 | COMPLETED | Bladder Management in Patients With Multiple Sclerosis: Optimizing Practice Patterns |
| NCT05726786 | PHASE3 | RECRUITING | The Role of Preoperative Immunonutrition on Morbidity and Immune Response After Cystectomy (INCyst Trial) |
| NCT00124306 | PHASE3 | COMPLETED | Efficacy of Amitriptyline for Painful Bladder Syndrome (PBS) |
| NCT00384891 | PHASE3 | TERMINATED | Hyperthermia Treatment in Conjunction With Mitomycin C Versus Bacillus Calmette-Guérin Immunotherapy (BCG) for Superficial Bladder Cancer |
| NCT01638000 | PHASE3 | COMPLETED | A Study to Evaluate the Efficacy and Safety of Mirabegron Compared to Solifenacin in Patients With Overactive Bladder Who Were Previously Treated With Another Medicine But Were Not Satisfied With That Treatment. |
| NCT01908829 | PHASE3 | COMPLETED | A Trial Comparing Combination Treatment (Solifenacin Plus Mirabegron) With One Treatment Alone (Solifenacin) |
| NCT02254915 | PHASE3 | WITHDRAWN | SHTC - EUROPE-1 Synergo Hyperthermia-Chemotherapy by European Urologists’ Research Operation Preserving Evolution Study I |
| NCT06237920 | PHASE2 | RECRUITING | Stage II-IIIa Urothelial Cancer Randomizing Pre-operative Nivolumab With or Without Relatlimab |
| NCT00256542 | PHASE2 | COMPLETED | Study of U101 for Bladder Pain and/or Urgency |
| NCT00317070 | PHASE2 | TERMINATED | Trial Comparing Intravesical Cocktail With Intravesical Dimethyl Sulfoxide (DMSO) in Painful Bladder Syndrome/Interstitial Cystitis (PBS/IC) |
| NCT01060254 | PHASE2 | TERMINATED | A Study to Evaluate the Pain Relieving Effects, Safety, and Tolerability of JNJ-42160443 for the Relief of Bladder Pain |
| NCT01340027 | PHASE2 | COMPLETED | A Study to Evaluate the Efficacy, Safety and Tolerability of Mirabegron and Solifenacin Succinate Alone and in Combination for the Treatment of Overactive Bladder |
| NCT01613586 | PHASE2 | COMPLETED | A Randomized Study Comparing Placebo and ASP3652 in the Treatment of Women With Bladder Pain Syndrome / Interstitial Cystitis (BPS/IC) |
| NCT02307487 | PHASE2 | COMPLETED | Safety of Pre-TURBT Intravesical Instillation of Escalating Doses of TC-3 Gel and MMC in NMIBC Patients |
| NCT02401542 | PHASE1/PHASE2 | TERMINATED | Dose Escalation, Expansion Study of Vofatamab (B-701) in Treatment of Locally Advanced or Metastatic Urothelial Cell Carcinoma |
| NCT03081858 | PHASE1/PHASE2 | COMPLETED | Proliposomal Intravesical Paclitaxel for Treatment of Low-Grade, Stage Ta, Non Muscle Invasive Bladder Cancer |
| NCT03123055 | PHASE1/PHASE2 | TERMINATED | A Study of B-701 in Combination With Pembrolizumab in Treatment of Locally Advanced or Metastatic Urothelial Cell Carcinoma |
| NCT04922047 | PHASE1/PHASE2 | UNKNOWN | Safety and Efficacy Study of Tislelizumab in Combination With BCG in HR-NMIBC Patients (TACBIN-01) |
| NCT04200963 | PHASE1 | COMPLETED | A Phase 1a/b Study of IK-175 as a Single Agent and in Combination With Nivolumab in Patients With Locally Advanced or Metastatic Solid Tumors and Urothelial Carcinoma |
| NCT03245242 | Not specified | ACTIVE_NOT_RECRUITING | Pediatric Urology Recovery After Surgery Endeavor (PURSUE) |
| NCT04167631 | Not specified | ACTIVE_NOT_RECRUITING | Can VI-RADS/ADC Accurately Stage Bladder Cancer?? |
| NCT04442724 | Not specified | RECRUITING | Bladder Fiducial Markers and Multiparametric-MRI (Mp-MRI) to Optimize Bladder Chemo-radiotherapy |
| NCT05153694 | Not specified | RECRUITING | Infectious Complications After Cystectomy: A Prospective Observational Study |
| NCT05250908 | Not specified | ACTIVE_NOT_RECRUITING | INTIBIA Pivotal Study |
| NCT06167356 | Not specified | RECRUITING | Study on the Occurrence of Possible Relapses and on the Quality of Life in Patients Who Underwent TURBK. |
| NCT06337942 | Not specified | RECRUITING | Deceased Donor Bladder or Combined Kidney-bladder Transplantation: a Phase 0 First-in-human Study |
| NCT06719232 | Not specified | RECRUITING | Evaluating the Efficacy and Patient Experience of Catheter-Free Intravesical Instillation |
| NCT00210249 | Not specified | COMPLETED | Development of an Evaluation Method of Elderly Condition in Patient Receiving Chemotherapy Treatment |
| NCT00253006 | Not specified | TERMINATED | Analysis of Expression of Nitric Oxide Syntheses and Their Functional Role in Human Urothelium |
| NCT00271297 | Not specified | COMPLETED | Pelvic Floor Muscle Training (PFMT) in Treatment and Prevention of POP (POP Study) |
| NCT00615043 | Not specified | COMPLETED | Multi Center Study to Obtain Bladder Tissue Specimens From Patients Undergoing Transurethral Resection Biopsy Procedure |
| NCT00956176 | Not specified | WITHDRAWN | Cidofovir Instillation in Hematopoietic Stem Cell Transplant (HSCT) Recipients With Hemorrhagic Cystitis |
| NCT02320773 | Not specified | COMPLETED | A Prospective Non-interventional Study in Overactive Bladder (OAB) Patients Prescribed Betmiga® as Part of Routine Clinical Practice |
| NCT02386072 | Not specified | COMPLETED | A Prospective, Observational, Multicenter Study of Patients Following Initiation of a New Course of Treatment for Overactive Bladder (OAB) |
| NCT02891460 | Not specified | COMPLETED | Pilot Study to Evaluate the Clinical Response to Mitomycin-C in Hydrogel (TC-3) Administered Intravesically in NMIBC Patients |
| NCT03065348 | Not specified | TERMINATED | Perioperative Multimodal Care for Cystectomy Frail Patient |
| NCT03257293 | Not specified | COMPLETED | A Trial of a Modified Cystoscopy Method to Reduce Pain Perception |
| NCT03486639 | Not specified | UNKNOWN | Urodynamics and Clinical Factors That Are Associated With Bladder Over-sensitivity |
| NCT03591367 | Not specified | COMPLETED | The Potential Role Of MicroRNA-155 And Telomerase Reverse Transcriptase In Diagnosis Of Non-Muscle Invasive Bladder Cancer And Their Pathological Correlation |
| NCT03845725 | Not specified | COMPLETED | Falls and Balance of Patients With Parkinson’s Disease With Urinary Disturbance |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| SOLIFENACIN | 4 | 9 |
| AMITRIPTYLINE | 4 | 3 |
| MIRABEGRON | 4 | 3 |
| CIDOFOVIR ANHYDROUS | 4 | 2 |
| MITOMYCIN | 4 | 2 |
| DIMETHYL SULFOXIDE | 4 | 1 |
| RELATLIMAB | 4 | 1 |
| FULRANUMAB | 3 | 1 |
| VOFATAMAB | 2 | 2 |