Epispadias

Summary

Epispadias (MONDO:0019759) is a disease. A subtype of exstrophy-epispadias complex — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: 1-9 / 100 000 (Europe)
• Phenotypes (HPO): 6

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-9 / 100 000		Europe	Not yet validated
Prevalence at birth	1-9 / 100 000	2.4	Europe	Not yet validated

Signs & symptoms

Clinical features (HPO)

6 HPO clinical features (Orphanet curated; top 6 by frequency):

HPO ID	Term	Frequency
HP:0100627	Displacement of the urethral meatus	Very frequent (80-99%)
HP:0000039	Epispadias	Very frequent (80-99%)
HP:0000020	Urinary incontinence	Frequent (30-79%)
HP:0000076	Vesicoureteral reflux	Frequent (30-79%)
HP:0002644	Abnormality of pelvic girdle bone morphology	Frequent (30-79%)
HP:0030911	Bifid clitoris	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	epispadias
Mondo ID	MONDO:0019759
MeSH	D004842
Orphanet	93928
ICD-10-CM	Q64.0
ICD-11	397402420
NCIT	C98923
SNOMED CT	406476007
UMLS	C0014588
MedGen	41839
GARD	0019235
MedDRA	10015088
Is cancer (heuristic)	no

Also known as: epispadias · epispadias (disease)

Data availability: 1 HPO phenotype.

Disease family

This is a subtype of exstrophy-epispadias complex. 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 › kidney disorder › exstrophy-epispadias complex › epispadias

Related subtypes (3): cloacal exstrophy, bladder exstrophy, bladder exstrophy-epispadias-cloacal exstrophy complex

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

No tiered GWAS variants or ClinVar records for this disease.

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: 0.