Penile agenesis

Summary

Penile agenesis (MONDO:0018846) is a disease and 3 clinical trials. Top therapeutic interventions include hyaluronic acid. A subtype of 46 XY differences of sex development — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 29
• Clinical trials: 3

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		80	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

29 HPO clinical features (Orphanet curated; top 29 by frequency):

HPO ID	Term	Frequency
HP:0000014	Abnormality of the bladder	Very frequent (80-99%)
HP:0000062	Ambiguous genitalia	Very frequent (80-99%)
HP:0000072	Hydroureter	Very frequent (80-99%)
HP:0000126	Hydronephrosis	Very frequent (80-99%)
HP:0000358	Posteriorly rotated ears	Very frequent (80-99%)
HP:0001562	Oligohydramnios	Very frequent (80-99%)
HP:0002023	Anal atresia	Very frequent (80-99%)
HP:0002089	Pulmonary hypoplasia	Very frequent (80-99%)
HP:0003196	Short nose	Very frequent (80-99%)
HP:0005280	Depressed nasal bridge	Very frequent (80-99%)
HP:0010480	Urethral fistula	Very frequent (80-99%)
HP:0010945	Fetal pyelectasis	Very frequent (80-99%)
HP:0030261	Absent penis	Very frequent (80-99%)
HP:0012583	Unilateral renal hypoplasia	Very frequent (80-99%)
HP:0012584	Bilateral renal hypoplasia	Very frequent (80-99%)
HP:0012620	Cloacal abnormality	Very frequent (80-99%)
HP:0012732	Anorectal anomaly	Very frequent (80-99%)
HP:0100590	Rectal fistula	Very frequent (80-99%)
HP:0000028	Cryptorchidism	Occasional (5-29%)
HP:0000052	Urethral atresia, male	Occasional (5-29%)
HP:0000800	Cystic renal dysplasia	Occasional (5-29%)
HP:0001629	Ventricular septal defect	Occasional (5-29%)
HP:0001631	Atrial septal defect	Occasional (5-29%)
HP:0001776	Bilateral talipes equinovarus	Occasional (5-29%)
HP:0002575	Tracheoesophageal fistula	Occasional (5-29%)
HP:0005944	Bilateral lung agenesis	Occasional (5-29%)
HP:0006827	Atrophy of the spinal cord	Occasional (5-29%)
HP:0009800	Maternal diabetes	Occasional (5-29%)
HP:0010958	Bilateral renal agenesis	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	penile agenesis
Mondo ID	MONDO:0018846
MeSH	C536649
Orphanet	49
NCIT	C99009
SNOMED CT	59981001
UMLS	C1387005
MedGen	278031
GARD	0004272
Is cancer (heuristic)	no

Also known as: agenesis of the penis · Aphallia · Aphallus · congenital absence of penis · micropenis · penis agenesia · penis agenesis

Disease family

This is a subtype of 46 XY differences of sex development. 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 › reproductive system disorder › gonadal disorder › disorder of sexual differentiation › 46 XY differences of sex development › penile agenesis

Related subtypes (23): Frasier syndrome, WAGR syndrome, Denys-Drash syndrome, familial adrenal hypoplasia with absent pituitary luteinizing hormone, PAGOD syndrome, XY type gonadal dysgenesis-associated anomalies syndrome, 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency, 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency, X-linked myotubular myopathy-abnormal genitalia syndrome, alpha thalassemia-X-linked intellectual disability syndrome, chondrodysplasia-pseudohermaphroditism syndrome, disorder of sex development-intellectual disability syndrome, 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome, sudden infant death-dysgenesis of the testes syndrome, Meacham syndrome, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, distal monosomy 9p, dysmorphism-short stature-deafness-disorder of sex development syndrome, 46,XY partial gonadal dysgenesis, testicular agenesis, 46,XY ovotesticular disorder of sex development, androgen insensitivity syndrome, male pseudohermaphroditism due to defective lh molecule

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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06781606	Not specified	NOT_YET_RECRUITING	Pilot Study of PEnile TRAnsplantation - Vascularized Composite Allografts
NCT01659528	Not specified	WITHDRAWN	Establishing Nomograms of Penile Length and Width Throughout the Weeks of Pregnancy
NCT04755634	Not specified	COMPLETED	Shafer Width and Girth: The Use of Injectable Fillers for Penile Enhancement

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
HYALURONIC ACID	4	1