Orchitis

Summary

Orchitis (MONDO:0006882) is a disease with 1 GWAS associations across 11 studies and 2 clinical trials. A subtype of testicular disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 1
• Clinical trials: 2

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	orchitis
Mondo ID	MONDO:0006882
EFO	EFO:1001078
MeSH	D009920
DOID	DOID:2518
ICD-10-CM	N45.2
NCIT	C97145
SNOMED CT	274718005
UMLS	C0029191
MedGen	18191
MedDRA	10031064
Is cancer (heuristic)	no

Also known as: orchitis · orchitis (disease) · testis inflammation · testisitis

Data availability: 1 GWAS association (11 studies) · 1 HPO phenotype.

Disease family

This is a subtype of testicular 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 › gonadal disorder › testicular disorder › orchitis

Related subtypes (7): chylocele of tunica vaginalis, atrophy of testis, testicular infarct, testicular dysgenesis syndrome, spermatic cord torsion, neoplasm of testis, acquired testicular failure

Subtypes (3): non-specific granulomatous orchitis, vesiculitis, epididymo-orchitis

Genetics & variants

GWAS landscape

1 GWAS associations across 11 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs145578899	5e-08	GSE1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478623	Verma A	2024	6,066	403,579	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478622	Verma A	2024	2,682	99,261	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480902	Verma A	2024	2,682	99,261	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080626	Backman JD	2021	1,983	171,102	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084612	Backman JD	2021	1,983	171,102	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90478621	Verma A	2024	973	51,552	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080625	Backman JD	2021	931	193,674	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084611	Backman JD	2021	931	193,674	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90651706	Liu TY	2025	896	84,916	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90727136	Kim HI	2026	287	43,739	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	1

MAF distribution

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

Functional consequences

Consequence	Count
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs145578899	16	85577589	TCA>T	0.05	intergenic_variant	GSE1	5e-08	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

Drugs indicated for this disease

6 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Fluoxymesterone	Approved (phase 4)
Methyltestosterone	Approved (phase 4)
Testosterone	Approved (phase 4)
Testosterone Cypionate	Approved (phase 4)
Testosterone Enanthate	Approved (phase 4)
Testosterone Undecanoate	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 2.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05097820	Not specified	RECRUITING	Prospective Observational Study on SEBBIN Silicone Gel-filled Testicular Implants
NCT02665182	Not specified	UNKNOWN	Up-positioning of the Testes as Supportive Therapy in Patients With Acute Orchitis