Enuresis

Summary

Enuresis (MONDO:0024290) is a disease with 4 GWAS associations across 1 studies and 22 clinical trials. Top therapeutic interventions include desmopressin, indomethacin, and mometasone furoate. A subtype of psychiatric disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4
• ClinVar variants: 5
• Clinical trials: 22

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	enuresis
Mondo ID	MONDO:0024290
MeSH	D004775
ICD-11	1157749237
NCIT	C34588
UMLS	C0014394
MedGen	8649
Is cancer (heuristic)	no

Also known as: enuresis

Data availability: 5 ClinVar variants · 4 GWAS associations (1 study).

Disease family

This is a subtype of psychiatric 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 developmental or physiological process › psychiatric disorder › enuresis

Related subtypes (13): sexual disorder, dissociative disorder, impulse control disorder, personality disorder, cognitive disorder, factitious disorder, substance-related disorder, somatoform disorder, mental disorder, eating disorder, Alice in Wonderland syndrome, catatonia, body integrity dysphoria

Subtypes (1): nocturnal enuresis

Genetics & variants

GWAS landscape

4 GWAS associations across 1 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
rs9376454	1e-13	Y_RNA - MCHR2	T	1.18
rs606599	2e-12	Y_RNA - MCHR2	G	1.15
rs857614	2e-12	PRDM13 - Y_RNA	T	1.16
rs60721117	6e-09	OBI1-AS1	CT	1.12

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST012080	Jorgensen CS	2021	3,882	31,073	Identification of genetic loci associated with nocturnal enuresis: a genome-wide association study.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	4
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
intergenic_variant	3
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs9376454	6	99795055	C>A,T	0.219	intergenic_variant	Y_RNA - MCHR2	1e-13	Tier 4: intronic/intergenic
rs606599	6	99675638	G>A,T	0.377	intergenic_variant	Y_RNA - MCHR2	2e-12	Tier 4: intronic/intergenic
rs857614	6	99627025	T>A,C,G	0.249	intergenic_variant	PRDM13 - Y_RNA	2e-12	Tier 4: intronic/intergenic
rs60721117	13	78286363	CT>C	0.48	intron_variant	OBI1-AS1	6e-09	Tier 4: intronic/intergenic

ClinVar germline variants

5 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 1 likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
267887	46;XY;t(1;2)(p34.2;q35)dn		Pathogenic	criteria provided, single submitter
267834	46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn		Likely pathogenic	criteria provided, single submitter
267829	46;XX;t(5;10)(p13.3;q21.1)dn		Uncertain significance	criteria provided, single submitter
267916	46;XY;t(10;14)(q11.2;q21)dn		Uncertain significance	criteria provided, single submitter
267924	46;XY;t(16;20)(q23.1;p11.22)		Uncertain significance	criteria provided, single submitter

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 for this disease

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

Drug	Development status
Desmopressin	Phase 3 (in late-stage trials)
Fluoxetine	Phase 3 (in late-stage trials)
Oxybutynin	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Ibuprofen, Lactose, Anhydrous, Melatonin.

Clinical trials & evidence

Clinical trials

Clinical trials: 22.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	15
PHASE4	3
PHASE2	2
PHASE3	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00226122	PHASE4	COMPLETED	The Effect of Indomethacin in Monosymptomatic Enuresis Nocturnal
NCT01036841	PHASE4	COMPLETED	Influence of Food-intake on Desmopressin Oral Tablets and MELT-formulation
NCT01861145	PHASE4	WITHDRAWN	Intranasal Steroids for the Treatment of Nocturnal Enuresis With Associated Obstructive Sleep Apnea
NCT02154152	PHASE3	UNKNOWN	A Clinical Study on Causticum 200 Centesimal Potency in Primary Enuresis
NCT00240812	PHASE2	COMPLETED	A Study to Determine if Ibuprofen in Combination With Pseudoephedrine HCl is More Effective Than Each Drug Alone in the Treatment of Nighttime Bedwetting
NCT00270621	PHASE2	COMPLETED	Family Help Program: Nighttime Enuresis Treatment Program
NCT01367080	PHASE1	COMPLETED	A Study to Compare the Pharmacokinetic Profiles of Etravil® Tablet 10mg and Etravil® Tablet 25mg
NCT06070675	Not specified	RECRUITING	Comparison of a Paper and Automated Bladder Diary in Pediatric Patients
NCT06764498	Not specified	ACTIVE_NOT_RECRUITING	Retrospective Study to Evaluate the Effectiveness of the Approach to Enuresis in Our Center
NCT00437528	Not specified	UNKNOWN	Safety and Applicability Study of a Novel Heat Flow Sensor Unit for Measuring Urinary Bladder Capacity
NCT01747343	Not specified	COMPLETED	Toilet Training Toddlers and Preschoolers
NCT01978210	Not specified	COMPLETED	Development of a Manualized Wireless Moisture Pager Intervention for Teaching Toileting in Children With Autism
NCT02369445	Not specified	COMPLETED	Investigation of Teacher-Mediated Toilet Training Using a Manualized Moisture Alarm Intervention
NCT02600676	Not specified	COMPLETED	Transcutaneous Electric Nerve Stimulation (TENS) in Children With Enuresis
NCT02699528	Not specified	UNKNOWN	The Effect of Methylphenidate on Primary Enuresis in Children With Attention Deficit Hyperactivity Disorder
NCT03399877	Not specified	UNKNOWN	A Study on Accuracy Improvement of Repeated Measure Uroflowmetry- Electromyography
NCT03478813	Not specified	WITHDRAWN	Voiding School as a Treatment of Children’s Day-time Incontinence or Enuresis
NCT04260646	Not specified	COMPLETED	Alarm Treatment for Combined Enuresis and Daytime Urinary Incontinence in Children
NCT04280887	Not specified	COMPLETED	MyPad - Intelligent Bladder Pre-void Alerting System
NCT05190601	Not specified	COMPLETED	Uroflowmetry in Children With Enuresis Nocturnal
NCT06185361	Not specified	UNKNOWN	Selective Serotonin Reuptake Inhibitors, Fluoxetine Versus the Standard Oral Desmopressin for Management of Mono-symptomatic Nocturnal Enuresis.
NCT06508333	Not specified	COMPLETED	Efficacy and Safety of Vitamin D Supplementation Combined With Alarm Therapy in Treating Nocturnal Enuresis

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
DESMOPRESSIN	4	2
INDOMETHACIN	4	1
MOMETASONE FUROATE	4	1