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penile agenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

penile agenesis

MONDO:0018846

Also known as:AphalliaAphalluscongenital absence of penis

Overview

An extremely rare congenital abnormality characterized by the complete absence of the penis. It may be associated with other genitourinary abnormalities.

TreatmentsNo approved treatments · 1 in pipeline

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: Abnormality of the bladder, Ambiguous genitalia, Hydroureter, and Hydronephrosis and others; and sometimes findings: Cryptorchidism, Urethral atresia, male, Cystic renal dysplasia, and Ventricular septal defect and others.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	4	Cystic renal dysplasia, Bilateral renal agenesis, Unilateral renal hypoplasia

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for penile agenesis. An additional 1 compound holds orphan drug designation.

Orphan Drug Designations

While no drugs are FDA-approved specifically for penile agenesis, some of the following designated compounds may be used off-label in clinical practice. Treatment decisions should be made in consultation with a specialist familiar with this condition.

The following drugs have received orphan drug designation from the FDA for penile agenesis. Orphan designation reflects regulatory interest and does not indicate approval for treatment.

Brand Name	Generic Name	Sponsor

Prognosis

Phenotype severity distribution: 18 very common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 penile agenesis.

10 publications have been identified in PubMed for penile agenesis. Research spans Case Report / Case Series (90%) and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	9	90%
Research summaries

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 4:23 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:49

GARD

Genetic and Rare Diseases Info Center

GARD:4272

Questions for Your Care Team

→What is the current development status of Dihydrotestosterone Gel, and when might it become available?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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penile agenesis

Overview

Clinical Presentation

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications

penile agenesis

Overview

Clinical Presentation

Treatment

Orphan Drug Designations

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Trials

Recent Publications