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atresia of urethra - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atresia of urethra

MONDO:0015195

Also known as:atresia of urethra (disease)urethral atresia

Overview

Atresia of the urethra is a rare congenital bladder outlet obstruction, a fetal lower urinary tract obstruction (fetal LUTO), that is usually fatal. Unless there is some other egress for the urine to escape the bladder, such as patent urachus or anuro-rectal communication, these lesions are not compatible with renal development.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Vesicoureteral reflux and Reduced kidney function (renal insufficiency); and common findings: Recurrent urinary tract infections, Megacystis, Hydroureter, and Hydronephrosis and others. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	3	Reduced kidney function (renal insufficiency), Recurrent urinary tract infections, Renal dysplasia

Diagnosis

Biomarker and diagnostic research for atresia of urethra has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 very common features, 9 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for atresia of urethra.

171 publications have been identified in PubMed for atresia of urethra. Kisho has analyzed 112 by research type. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (23%), and Clinical Trial Publication (19%).

Research Type	Count	% of Total
Patient case studies	34	30%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 9:42 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:105

GARD

Genetic and Rare Diseases Info Center

GARD:18678

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

atresia of urethra

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

atresia of urethra

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications