Ureterolithiasis

Summary

Ureterolithiasis (MONDO:0007009) is a disease with 19 GWAS associations across 10 studies and 29 clinical trials. Top therapeutic interventions include tamsulosin, furosemide, and parecoxib. A subtype of ureteral disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 19
• Clinical trials: 29

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ureterolithiasis
Mondo ID	MONDO:0007009
EFO	EFO:1001228
MeSH	D053039
DOID	DOID:14146
ICD-10-CM	N20.1
NCIT	C114696
SNOMED CT	31054009
UMLS	C0041952
MedGen	21775
Is cancer (heuristic)	no

Also known as: calculus of ureter · ureteric stone

Data availability: 19 GWAS associations (10 studies).

Disease family

Classification path: disease › human disease › disease by body system or component › urinary system disorder › ureteral disorder › ureterolithiasis

Related subtypes (7): pyoureter, ureteral obstruction, ureter tuberculosis, vesicoureteral reflux, ureterocele, ureter neoplasm, ureteritis

Genetics & variants

GWAS landscape

19 GWAS associations across 10 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr16:20365654	1e-32		A	0.21
rs77924615	4e-32	PDILT	G	0.21
rs56235845	1e-25	RGS14	T	0.16
rs219782	4e-20	LNCTSI	A	0.15
chr21:37832621	3e-18		G	0.15
rs2231142	4e-15	ABCG2	G	0.17
chr22:23366323	1e-14		G	0.12
rs9612214	3e-14	ATP5PFP2 - RSPH14	G	0.12
rs142212375	6e-14	KLK15	C	0.27
rs9895661	1e-13	BCAS3, TBX2-AS1	?
rs17217119	3e-13	BCAS1 - CYP24A1	A	0.13
rs8598	4e-13	PKN1	C	0.12
rs6127099	8e-12	BCAS1 - CYP24A1	A	0.12
rs1256327	1e-11	ALPL	A	0.1
rs2286526	2e-11	TBX2-AS1	C	0.11

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476147	Verma A	2024	9,610	435,460	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651215	Liu TY	2025	6,449	217,244	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90080587	Backman JD	2021	2,766	385,149	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084573	Backman JD	2021	2,766	385,149	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90044239	Jiang L	2021	2,456	453,892	A generalized linear mixed model association tool for biobank-scale data.
GCST90436440	Zhou W	2018	2,417	401,005	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90478568	Verma A	2024	1,317	119,676	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480397	Verma A	2024	1,317	119,676	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478567	Verma A	2024	1,057	58,153	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90246183	Walters RG	2023	131	75,766	Genotyping and population characteristics of the China Kadoorie Biobank.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	1
Tier 2: splice/UTR	1
Tier 3: regulatory	0
Tier 4: intronic/intergenic	13

MAF distribution

Bucket	Variants
common (>=0.05)	14
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intron_variant	8
unknown	3
splice_region_variant	1
stop_gained	1
intergenic_variant	1
synonymous_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr16:20365654				0.182			1e-32	Tier 4: intronic/intergenic
rs77924615	16	20381010	G>A	0.174	intron_variant	PDILT	4e-32	Tier 4: intronic/intergenic
rs56235845	5	177371039	T>G	0.336	splice_region_variant	RGS14	1e-25	Tier 2: splice/UTR
rs219782	21	36460110	A>G	0.271	intron_variant	LNCTSI	4e-20	Tier 4: intronic/intergenic
chr21:37832621				0.25			3e-18	Tier 4: intronic/intergenic
rs2231142	4	88131171	G>A,C,T	0.11	stop_gained	ABCG2	4e-15	Tier 1: coding
chr22:23366323				0.303			1e-14	Tier 4: intronic/intergenic
rs9612214	22	23025318	G>C	0.255	intergenic_variant	ATP5PFP2 - RSPH14	3e-14	Tier 4: intronic/intergenic
rs142212375	19	50833005	C>T	0.033	intron_variant	KLK15	6e-14	Tier 4: intronic/intergenic
rs9895661	17	61379228	C>A,T	0.05	intron_variant	BCAS3, TBX2-AS1	1e-13	Tier 4: intronic/intergenic
rs17217119	20	54126051	A>G	0.196	intron_variant	BCAS1 - CYP24A1	3e-13	Tier 4: intronic/intergenic
rs8598	19	14471727	C>T	0.279	synonymous_variant	PKN1	4e-13	Tier 4: intronic/intergenic
rs6127099	20	54114863	A>C,T	0.289	intron_variant	BCAS1 - CYP24A1	8e-12	Tier 4: intronic/intergenic
rs1256327	1	21571283	A>C,G,T	0.468	intron_variant	ALPL	1e-11	Tier 4: intronic/intergenic
rs2286526	17	61394696	C>G,T	0.344	intron_variant	TBX2-AS1	2e-11	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

Drugs indicated or in trials for this disease

No drug has an approved disease-direct ChEMBL indication for this disease.

1 drug in clinical trials for this disease (phase 2–3, investigational): efficacy not established — a trial record, not an indication.

Drug	Highest phase
Tamsulosin	Phase 3

Clinical trials & evidence

Clinical trials

Clinical trials: 29.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	20
PHASE4	5
PHASE3	2
PHASE2	1
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02369744	PHASE4	TERMINATED	Silodosin Versus Tamsulosin for Treatment of Ureteral Stones
NCT02469766	PHASE4	UNKNOWN	Treatment of Upper Ureteric Stones
NCT03614052	PHASE4	TERMINATED	Tamsulosin as Adjuvant Treatment Prior to Endoscopic Ureterolithotomy
NCT03704623	PHASE4	COMPLETED	Parecoxib vs Paracetamol in the Treatment of Acute Renal Colic
NCT06465784	PHASE4	COMPLETED	Laser Lithotripsy for Ureteral Stones
NCT00151567	PHASE3	COMPLETED	Evaluation of Tamsulosin in the Treatment of Ureteral Stones
NCT05270421	PHASE3	UNKNOWN	Effect of Furosemide on ESWL Outcomes for Renal and Ureteral Calculi
NCT00409227	PHASE2	UNKNOWN	Does Treatment With Alfuzosin Increase Success Rates of (SWL) Shock Wave Lithotripsy
NCT03274700	EARLY_PHASE1	UNKNOWN	The Use of Tamsulosin in Treatment of (10-15 mm) Lower Ureteric Stones in Adults With Non-emergent Symptoms
NCT04746378	Not specified	ENROLLING_BY_INVITATION	PRedictive Accuracy of Initial Stone Burden Evaluation.
NCT06728943	Not specified	RECRUITING	Efficacy of Intra-Ureteric Aminophylline Installation After Failed Stone Accessibility by Semi-rigid Ureteroscopy. Prospective Trial
NCT06841523	Not specified	NOT_YET_RECRUITING	An Intelligent Pressure and Temperature Control Ureteral Soft Scope System for Treating Stones With Infection.
NCT07012941	Not specified	NOT_YET_RECRUITING	Super-Pulsed Thulium Fiber Laser Versus Holmium:YAG Laser in Retrograde Intrarenal Surgery for Upper Ureteral and Renal Stones
NCT07247617	Not specified	RECRUITING	Flexible vs Semi-rigid URS
NCT07562282	Not specified	RECRUITING	Safety and Efficacy of Combination of Tamsulosin 0.4 mg Plus Tadalafil 5mg Versus 2.5 mg
NCT01412840	Not specified	WITHDRAWN	Sterile Water Injections for Relieving Ureterolithiasis Pain
NCT02055430	Not specified	COMPLETED	Ureteral Stents Versus Percutaneous Nephrostomy for Initial Urinary Drainage
NCT02139059	Not specified	UNKNOWN	Delayed or Direct Ureteroscopy in the Treatment of Pediatric Calcular Anuria
NCT02279927	Not specified	UNKNOWN	Prospective Comparison Between Different Laser Settings for Ureteral \ Kidney Stones Treatment During Ureteroscopy
NCT02539004	Not specified	COMPLETED	US-Non Contrast Computed Tomography Real-time Fusion for Urinary Stones Follow up
NCT03404986	Not specified	COMPLETED	Ultrasound Guided Ureteroscopy and Ureteric Stones
NCT03795545	Not specified	COMPLETED	Ultraslow SWL Versus Slow SWL for Ureteric Stones With High Attenuation Value
NCT04069338	Not specified	COMPLETED	Comparison of Lithotripsy Urolithiasis Machines
NCT04759417	Not specified	COMPLETED	Comparison of CHOKAI vs STONE Score to Predict the Presence of Ureteric Stones in Patients With Renal Colic: A Multi-center Prospective Observational Study
NCT04851171	Not specified	UNKNOWN	Semi-rigid Ureteroscopy Versus Flexible Ureteroscopy For the Treatment of Proximal Ureteric Stone
NCT04894058	Not specified	COMPLETED	Ureteroscopic Lithotripsy in the Reverse Trendelenburg Position for Upper Ureteral Stones
NCT05218057	Not specified	COMPLETED	to Compare the Effectiveness of Thulium Fiber Laser and Holmium YAG Laser for Ureteroscopic Lithotripsy
NCT06761378	Not specified	COMPLETED	Ideal Time of Stenting Prior to Ureteral Access Sheath for Stone Disease
NCT06975488	Not specified	COMPLETED	Effectiveness of LASER in Treatment of Ureteric Stones.

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TAMSULOSIN	4	10
FUROSEMIDE	4	1
PARECOXIB	4	1
SILODOSIN	4	1
CHEMBL5592090	0	1