Spermatocele

Summary

Spermatocele (MONDO:0006977) is a disease with 10 GWAS associations across 7 studies and 4 clinical trials. Top therapeutic interventions include methoxyflurane. 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

• GWAS associations: 10
• Clinical trials: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	spermatocele
Mondo ID	MONDO:0006977
EFO	EFO:1001189
MeSH	D013088
DOID	DOID:11997
ICD-10-CM	N43.4
ICD-11	1907004531
SNOMED CT	49263001
UMLS	C0037859
MedGen	20857
MedDRA	10041490
Is cancer (heuristic)	no

Data availability: 10 GWAS associations (7 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 › spermatocele

Related subtypes (25): benign male reproductive system neoplasm, hematocele of tunica vaginalis testis, male genital organ stricture, male genital organ vascular disease, penile disorder, testicular disorder, prostate disorder, epididymitis, hydrocele, male infertility, male genital tuberculosis, 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

Genetics & variants

GWAS landscape

10 GWAS associations across 7 studies. Top hits map to 10 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs7589901	3e-14	PAX8, PAX8-AS1	A	0.23
rs538116418	6e-13	MTMR7	T	3.04
rs549551170	9e-12	LINC01965	T	4.05
rs191370775	2e-11	STK32B	G	2.35
rs534758588	3e-11	DMRT2 - RPS27AP14	A	2.95
rs180904628	3e-11	KIRREL3, KIRREL3-AS1	C	2.4
rs113792673	4e-11	PDE1A	T	2.25
rs552520704	4e-11	CMC1	C	3.1
rs557602265	4e-11	ZNF787	G	2.84

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90476158	Verma A	2024	2,233	412,227	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080624	Backman JD	2021	1,816	173,556	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084610	Backman JD	2021	1,816	173,556	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90480414	Verma A	2024	475	103,802	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482240	Verma A	2024	475	103,802	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90482239	Verma A	2024	254	53,139	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90727135	Kim HI	2026	198	43,828	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

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	9

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	0
rare (<0.01)	8
unknown	0

Functional consequences

Consequence	Count
intron_variant	8
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs7589901	2	113235767	A>C,G	0.357	intron_variant	PAX8, PAX8-AS1	3e-14	Tier 4: intronic/intergenic
rs538116418	8	17407519	T>C	0	intron_variant	MTMR7	6e-13	Tier 4: intronic/intergenic
rs549551170	2	104072432	T>G	0.001	intron_variant	LINC01965	9e-12	Tier 4: intronic/intergenic
rs191370775	4	5283168	G>A	0.001	intron_variant	STK32B	2e-11	Tier 4: intronic/intergenic
rs534758588	9	1135406	A>G	0	intergenic_variant	DMRT2 - RPS27AP14	3e-11	Tier 4: intronic/intergenic
rs180904628	11	126607207	C>T	0.001	intron_variant	KIRREL3, KIRREL3-AS1	3e-11	Tier 4: intronic/intergenic
rs113792673	2	182229754	T>C	0.002	intron_variant	PDE1A	4e-11	Tier 4: intronic/intergenic
rs552520704	3	28249081	C>A,T	0.001	intron_variant	CMC1	4e-11	Tier 4: intronic/intergenic
rs557602265	19	56118777	G>A	0.001	intron_variant	ZNF787	4e-11	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: 4.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2
PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06242977	PHASE3	UNKNOWN	Efficacy of EMLA Cream Assisted Loco-sedation for Office-based Andrology Procedures
NCT07192198	PHASE2	COMPLETED	Efficacy of Inhaled Methoxyflurane (Penthrox) as Adjunct for Urologic Procedures Under Local Anesthetic: A Pilot Study
NCT03258437	Not specified	COMPLETED	Efficacy and Safety of DA-9401 on Improvement of Sperm Motility
NCT05617261	Not specified	UNKNOWN	Evaluating Patient Tolerability and Success for Penile and Scrotal Urologic Procedures Under Conscious Sedation: A Prospective Study

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
METHOXYFLURANE	4	1
CHEMBL443232	0	2