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Atlas / Disease / Urethral stricture

Urethral stricture

disease
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Also known as urethral stricture (disease)

Summary

Urethral stricture (MONDO:0002127) is a disease with 2 cohort genes and 41 clinical trials. Top therapeutic interventions include bupivacaine, celecoxib, and gabapentin.

At a glance

  • Cohort genes: 2
  • ClinVar variants: 2
  • Clinical trials: 41

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

FieldValue
Canonical nameurethral stricture
Mondo IDMONDO:0002127
MeSHD014525
DOIDDOID:1829
ICD-10-CMN35
ICD-11611219038
NCITC79821
SNOMED CT76618002
UMLSC4551691
MedGen1641821
Is cancer (heuristic)no

Also known as: urethral stricture · urethral stricture (disease)

Data availability: 2 ClinVar variants · 1 HPO phenotype.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › urinary system disorder › urethral disorder › urethral obstruction › urethral stricture

Related subtypes (1): urethral obstruction sequence

Subtypes (1): infective urethral stricture

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

2 uncertain significance

ClinVarVariant (HGVS)GeneClassificationReview
638675GRCh37/hg19 15q12(chr15:27462869-27544157)GABRG3Uncertain significanceno assertion criteria provided
638674GRCh37/hg19 7q34(chr7:139478979-139550968)TBXAS1Uncertain significanceno assertion criteria provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

GeneOrphanet IDRare disease
TBXAS1Orphanet:1802Ghosal hematodiaphyseal dysplasia

Cohort genes → proteins

2 cohort genes, 2 distinct canonical proteins.

Evidence partition

SubsetGenes
multi_evidence2

Cohort genes (full)

SymbolHGNCEnsemblUniProtNameEvidence
TBXAS1HGNC:11609ENSG00000059377P24557Thromboxane-A synthaseclinvar
GABRG3HGNC:4088ENSG00000182256Q99928Gamma-aminobutyric acid receptor subunit gamma-3clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

SymbolProtein nameFunction (lead sentence)
TBXAS1Thromboxane-A synthaseCatalyzes the conversion of prostaglandin H2 (PGH2) to thromboxane A2 (TXA2), a potent inducer of blood vessel constriction and platelet aggregation.
GABRG3Gamma-aminobutyric acid receptor subunit gamma-3Gamma subunit of the heteropentameric ligand-gated chloride channel gated by gamma-aminobutyric acid (GABA), a major inhibitory neurotransmitter in the brain.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 2 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

FamilyGenesFoldFDR
Other/Unknown21.8×0.312

Per-gene assignment

SymbolFamilyDruggable?ECInterPro (top 3)
TBXAS1Other/UnknownnoCyt_P450, Cyt_P450_E_grp-I, Cyt_P450_CS
GABRG3Other/UnknownnoGABRG-1/4, GABBAg3_rcpt, GABAA/Glycine_rcpt

Expression context

Cohort genes with no expression data: 0.

2 cohort genes are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

BucketGenes
narrow (1-5 tissues)0
moderate (6-20)0
broad (>20)2
unknown0

Top tissues across cohort

TissueCohort genes
leukocyte1
monocyte1
mononuclear cell1
cortical plate1
male germ line stem cell (sensu Vertebrata) in testis1
right testis1

Per-gene tissue summary (top 30)

SymbolBgee breadthFANTOM5 breadthSCXATop tissues
TBXAS1180ubiquitousmarkermonocyte, mononuclear cell, leukocyte
GABRG3115broadmarkermale germ line stem cell (sensu Vertebrata) in testis, cortical plate, right testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

SymbolInteractor count
TBXAS12,072
GABRG31,126

Structural data

PDB: 0 · AlphaFold-only: 2 · No structure: 0

AlphaFold-only cohort genes (top 30 by pLDDT)

SymbolUniProtpLDDT
TBXAS1P2455791.50
GABRG3Q9992875.44

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 15. Enrichment computed across 2 evidence-associated genes (2 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

PathwayCohort genesFoldFDRSample cohort genes
Defective TBXAS1 causes GHDD15710.0×0.003TBXAS1
Eicosanoids1475.8×0.008TBXAS1
Metabolic disorders of biological oxidation enzymes1439.2×0.008TBXAS1
Synthesis of Prostaglandins (PG) and Thromboxanes (TX)1380.7×0.008TBXAS1
Cytochrome P450 - arranged by substrate type1356.9×0.008TBXAS1
Arachidonate metabolism1285.5×0.009TBXAS1
GABA receptor activation1158.6×0.013GABRG3
Signaling by ERBB41135.9×0.014GABRG3
Phase I - Functionalization of compounds1109.8×0.015TBXAS1
Fatty acid metabolism165.6×0.021TBXAS1
Biological oxidations164.9×0.021TBXAS1
Diseases of metabolism140.2×0.031TBXAS1
Metabolism of lipids115.8×0.072TBXAS1
Disease16.5×0.158TBXAS1
Metabolism15.8×0.165TBXAS1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 2 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO termCohort genesFoldFDRSample cohort genes
prostanoid biosynthetic process11203.7×0.005TBXAS1
icosanoid metabolic process1936.2×0.005TBXAS1
intracellular chloride ion homeostasis1842.6×0.005TBXAS1
prostaglandin biosynthetic process1561.7×0.005TBXAS1
response to fatty acid1526.6×0.005TBXAS1
inhibitory synapse assembly1312.1×0.006GABRG3
positive regulation of vasoconstriction1300.9×0.006TBXAS1
gamma-aminobutyric acid signaling pathway1271.8×0.006GABRG3
synaptic transmission, GABAergic1247.8×0.006GABRG3
long-chain fatty acid biosynthetic process1221.7×0.006TBXAS1
chloride transmembrane transport1118.7×0.010GABRG3
response to ethanol173.3×0.015TBXAS1
response to xenobiotic stimulus134.5×0.029GABRG3

Therapeutics

Drugs indicated for this disease

0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

DrugDevelopment status
BupivacainePhase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Collagenase Clostridium Histolyticum, Mitomycin, Sodium Chloride.

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 0

Druggability breadth: 2 of 2 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

SymbolExample approved molecule
TBXAS1CLOTRIMAZOLE
GABRG3ENZALUTAMIDE

Top cohort targets by molecule count

SymbolMoleculesMax phase
TBXAS1464
GABRG3154

Drugs targeting cohort genes (top 30)

MoleculeMax phaseTargets in cohort
CLOTRIMAZOLE4TBXAS1
CISPLATIN4TBXAS1
SAQUINAVIR4TBXAS1
AMPRENAVIR4TBXAS1
OZAGREL4TBXAS1
GRAMICIDIN4TBXAS1
ROSIGLITAZONE4TBXAS1
SULCONAZOLE4TBXAS1
OXICONAZOLE4TBXAS1
KETOCONAZOLE4TBXAS1
VINBLASTINE4TBXAS1
RITONAVIR4TBXAS1
NIFEDIPINE4TBXAS1
BITHIONOL4TBXAS1
3,3’,4’,5-TETRACHLOROSALICYLANILIDE4TBXAS1
TROGLITAZONE4TBXAS1
DIETHYLSTILBESTROL4TBXAS1
SULFASALAZINE4TBXAS1
TROVAFLOXACIN4TBXAS1
ERGOTAMINE4TBXAS1
AMINOGLUTETHIMIDE4TBXAS1
HEXACHLOROPHENE4TBXAS1
TANNIC ACID4TBXAS1
NELFINAVIR4TBXAS1
INDOMETHACIN4TBXAS1
ZAFIRLUKAST4TBXAS1
MONTELUKAST4TBXAS1
ECONAZOLE4TBXAS1
TAMOXIFEN4TBXAS1
MICONAZOLE4TBXAS1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

SymbolAssaysType breakdown
TBXAS1210Binding:138, Functional:72
GABRG3191Binding:172, Functional:15, Toxicity:3, ADMET:1

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

SymbolChEMBL assays
TBXAS1210
GABRG3191

Pharmacogenomics

Cohort genes with a PharmGKB record: 2; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

30 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

CompoundMax phaseCohort target (bioactivity)
CLOTRIMAZOLE4TBXAS1
CISPLATIN4TBXAS1
SAQUINAVIR4TBXAS1
AMPRENAVIR4TBXAS1
OZAGREL4TBXAS1
GRAMICIDIN4TBXAS1
ROSIGLITAZONE4TBXAS1
SULCONAZOLE4TBXAS1
OXICONAZOLE4TBXAS1
KETOCONAZOLE4TBXAS1
VINBLASTINE4TBXAS1
RITONAVIR4TBXAS1
NIFEDIPINE4TBXAS1
BITHIONOL4TBXAS1
3,3’,4’,5-TETRACHLOROSALICYLANILIDE4TBXAS1
TROGLITAZONE4TBXAS1
DIETHYLSTILBESTROL4TBXAS1
SULFASALAZINE4TBXAS1
TROVAFLOXACIN4TBXAS1
ERGOTAMINE4TBXAS1
AMINOGLUTETHIMIDE4TBXAS1
HEXACHLOROPHENE4TBXAS1
TANNIC ACID4TBXAS1
NELFINAVIR4TBXAS1
INDOMETHACIN4TBXAS1
ZAFIRLUKAST4TBXAS1
MONTELUKAST4TBXAS1
ECONAZOLE4TBXAS1
TAMOXIFEN4TBXAS1
MICONAZOLE4TBXAS1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

TierDefinitionGenesSymbols
AApproved (phase 4 drug)2TBXAS1, GABRG3
BPhased (≥1) drug, not yet approved0
CDruggable family + PDB, no drug0
DDruggable family + AlphaFold only, no drug0
EDifficult family or no structure, no drug0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 41.

Phase distribution (across all retrieved trials)

PhaseTrials
Not specified26
PHASE45
PHASE23
PHASE32
PHASE12
PHASE2/PHASE31
PHASE1/PHASE21
EARLY_PHASE11

Top trials by phase / activity

NCTPhaseStatusTitle
NCT05383274PHASE4RECRUITINGOptilume PoST AppRoval Clinical Evaluation of Andrology ParaMeters
NCT06795074PHASE4RECRUITINGRisk of Recurrent Urethral Stricture After Treatment With Paclitaxel-Coated Dilatation Balloon (Optilume) Compared With Non-coated Dilatation Balloon
NCT07501884PHASE4NOT_YET_RECRUITINGREDUCER Trial (TXA in Urethroplasty)
NCT01196572PHASE4UNKNOWNEfficiency of Cold vs. Laser Internal Urethrotomy Treatment of Urethral Strictures
NCT03859024PHASE4COMPLETEDEfficacy of Opioid-limiting Pain Management Protocol in Men Undergoing Urethroplasty
NCT00270504PHASE3COMPLETEDMemokath® 044TW Stent for Treatment of Urethral Stricture
NCT03720223PHASE3COMPLETEDLiposomal Bupivacaine To Control Post-Operative Pain Following BMG
NCT06232005PHASE2/PHASE3COMPLETEDIntralesional Injection of Mitomycin C Following Visual Internal Urethrotomy for Recurrent Urethral Stricture
NCT00535717PHASE2COMPLETEDRole of Uttarbasti in the Management of Mutra Marga Sankoch (Urethral Stricture)
NCT00918528PHASE1/PHASE2UNKNOWNEffect of Mitomycin C on Urethral Stricture Recurrence After Internal Urethrotomy
NCT02948842PHASE2COMPLETEDClostridium Histolyticum Collagenase Injection for Urethral Disease
NCT04307537PHASE2COMPLETEDPost-Operative Imaging After Urethroplasty With Peri-catheter Retrograde Urethrography Or Trial of Voiding With Voiding Cysto-urethrography
NCT03258658PHASE1RECRUITINGSafety and Feasibility Study of Autologous Engineered Urethral Constructs for the Treatment of Strictures
NCT03061344PHASE1UNKNOWNLiquid Buccal Mucosa Graft Urethroplasty
NCT03205670EARLY_PHASE1UNKNOWNTissue-engineered Construct Based on Buccal Mucosa Cells and Matrix From Collagen and Polylactoglycolide Fibers
NCT03499964Not specifiedACTIVE_NOT_RECRUITINGROBUST III- Re-Establishing Flow Via Drug Coated Balloon For The Treatment Of Urethral Stricture Disease
NCT04071925Not specifiedRECRUITING9000 URETHRA STUDY: a Study About Urethroplasty for Urethral Stricture Disease
NCT04965025Not specifiedRECRUITINGMulti-stage Urethroplasty with Augmentation Using a Dorsal Graft Inlay Technique Comparing Graft Use in First or Second Stage
NCT06362083Not specifiedRECRUITINGUrethral Stricture Database
NCT06827210Not specifiedNOT_YET_RECRUITINGTreatment of Bulbar Urethral Strictures With Optilume Drug-Coated Balloons in an Untreated Population
NCT07074717Not specifiedRECRUITINGPenile Skin Versus Buccal Mucosal Graft in Augmentation Urethroplasty for Long Anterior Urethral Stricture
NCT07375641Not specifiedNOT_YET_RECRUITINGThe Impact of Age and Sex on Anticipated and Experienced Pain in First-Time Outpatient Flexible Cystoscopy
NCT07403786Not specifiedRECRUITINGUrethral Resistive Index (URI): A New Parameter for Diagnosing Urethral Obstruction
NCT07508566Not specifiedNOT_YET_RECRUITINGA Comparative Study of the Antibacterial Effects of Two Preoperative Hair Removal Methods in Male Patients With Urethral Stricture
NCT01982136Not specifiedCOMPLETEDFunctional Outcome of Urethral Reconstructive Surgery
NCT02321670Not specifiedCOMPLETEDScandinavian Urethroplasty Study
NCT02551783Not specifiedTERMINATEDDorsal vs. Ventral Buccal Graft Dorsal vs. Ventral Buccal Graft
NCT02634619Not specifiedTERMINATEDA Study of Dorsal Versus Ventral Buccal Mucosa Graft Onlay for Bulbar Urethroplasty
NCT03270384Not specifiedCOMPLETEDRe-establishing Flow Via Drug Coated Balloon For The Treatment Of Urethral Stricture Disease
NCT03572348Not specifiedCOMPLETEDVeSpAR: Comparing Vessel-Sparing Anastomotic Repair and Transecting Anastomotic Repair in Isolated Short Bulbar Strictures.
NCT03851952Not specifiedWITHDRAWNRe-Establishing Flow Via Drug Coated Balloon for the Treatment of Urethral Stricture Disease - Registry Study
NCT03973619Not specifiedCOMPLETEDUrethral Stricture: A Comparison Between Jugal or Labial Graft Urethroplasty
NCT04161365Not specifiedUNKNOWNFeasibility and Therapeutic Potential of Free Fat Grafts in the Treatment of Urethral Strictures
NCT04357080Not specifiedCOMPLETEDFactors Predicting Urethral Stricture Recurrence After Dorsal Onlay Augmented, Buccal Mucosal Graft Urethroplasty
NCT05078788Not specifiedCOMPLETEDHolmium Laser Uretherotomy in Combination With Intralesional Steroids in Bulbar Uretheral Stricture
NCT05451732Not specifiedUNKNOWNNanofat Grafting in Male and Female Subjects Affected by Urethral Strictures
NCT05463991Not specifiedCOMPLETEDBioengineered Collagen Implant for Urethral Stricture Repair
NCT05464290Not specifiedUNKNOWNThe Nanofat Regenerative Surgery for Management of Genital Lichen Sclerosus in Male and Female Patients
NCT05519566Not specifiedUNKNOWNThe Accuracy of Pulsed Fluoroscopy Retrograde Urethrogram Vs the Traditional Retrograde Urethrogram In Diagnosing Urethral Stricture
NCT06064968Not specifiedCOMPLETEDEffectiveness of Intermittent Bladder Catheterization (IBC) in Reducing Recurrence of Urethral Stricture

Drugs tested across these trials (top 30)

MoleculeMax phaseTrials referencing
BUPIVACAINE42
CELECOXIB41
GABAPENTIN41
MITOMYCIN41
OXYCODONE41
CHEMBL407138201
CHEMBL517514401

About this page

Generated deterministically by Sugi Atlas from primary biomedical databases via BioBTree. Every record on this page traces to a primary source.

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This page pulls from 71 datasets indexed by BioBTree:

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