Penile disorder

Summary

Penile disorder (MONDO:0002036) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 GWAS associations across 3 studies and 9 clinical trials. A subtype of male reproductive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 7 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 9

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	penile disorder
Mondo ID	MONDO:0002036
MeSH	D010409
DOID	DOID:1529
NCIT	C26846
SNOMED CT	33958003
UMLS	C0030846
MedGen	10627
Anatomy (UBERON)	UBERON:0000989
Is cancer (heuristic)	no

Also known as: disease of penis · disease or disorder of penis · disorder of penis · penile disease · penile disorder · penis disease · penis disease or disorder

Data availability: 1 GWAS association (3 studies).

Disease family

This is a subtype of male reproductive system 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 body system or component › reproductive system disorder › male reproductive system disorder › penile disorder

Related subtypes (25): benign male reproductive system neoplasm, hematocele of tunica vaginalis testis, male genital organ stricture, male genital organ vascular disease, testicular disorder, prostate disorder, epididymitis, hydrocele, male infertility, male genital tuberculosis, spermatocele, dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome, cryptorchidism, diphallia, postorgasmic illness syndrome, penoscrotal transposition, congenital bilateral absence of vas deferens, posterior hypospadias, isolated micropenis, male reproductive system neoplasm, fournier gangrene, congenital agenesis of the scrotum, scrotal disorder, congenital megaprepuce, epididymis disease

Subtypes (7): erectile dysfunction, balanitis, leukoplakia of penis, penile neoplasm, phimosis, posthitis, vascular disorder of penis

Genetics & variants

GWAS landscape

1 GWAS associations across 3 studies. Top hits map to 0 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs57552985	3e-09	LRRC75A - ZNF287	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90080630	Backman JD	2021	524	175,725	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084616	Backman JD	2021	524	175,725	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651353	Liu TY	2025	517	81,908	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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	1

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs57552985	17	16544688	C>T		intergenic_variant	LRRC75A - ZNF287	3e-09	Tier 4: intronic/intergenic

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: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE1	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03463239	PHASE1	NOT_YET_RECRUITING	Bioengineered Penile Tissue Constructs for Irreversibly Damaged Penile Corpora
NCT04771442	PHASE1	COMPLETED	Stem Cell Treatment of Peyronie´s Disease.
NCT03389854	Not specified	COMPLETED	Efficacy of Penile Traction Therapy Using a Novel Device
NCT03500419	Not specified	COMPLETED	Penile Length Maintenance Post-Prostatectomy
NCT03756688	Not specified	COMPLETED	Penile Length Restoration in Men With Diabetes Mellitus, Type II
NCT04399057	Not specified	UNKNOWN	Shear Wave Elastography New Ultrasound Approach for the Erectile Dysfunction
NCT04725292	Not specified	COMPLETED	Rare Benign Lesion of Peins
NCT04821115	Not specified	COMPLETED	Safety and Efficacy of Low-intensity Shockwave Therapy for Peyronie’s Disease
NCT05617261	Not specified	UNKNOWN	Evaluating Patient Tolerability and Success for Penile and Scrotal Urologic Procedures Under Conscious Sedation: A Prospective Study