Testicular disorder

Summary

Testicular disorder (MONDO:0002329) is a disease (an umbrella term covering 8 Mondo subtypes) with 23 GWAS associations across 21 studies and 8 clinical trials. Top therapeutic interventions include avelumab. A subtype of gonadal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 8 Mondo subtypes
• GWAS associations: 23
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	testicular disorder
Mondo ID	MONDO:0002329
EFO	EFO:0009601
MeSH	D013733
DOID	DOID:2519
NCIT	C26890
SNOMED CT	64910008
UMLS	C0039584
MedGen	11743
Anatomy (UBERON)	UBERON:0000473
Is cancer (heuristic)	no

Also known as: disease of testis · disease or disorder of testis · disorder of testis · testicular disease · testicular disorder · testis disease · testis disease or disorder

Data availability: 23 GWAS associations (21 studies).

Disease family

This is a subtype of gonadal 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

Related subtypes (5): precocious puberty, disorder of sexual differentiation, hypogonadism, ovarian disorder, gonadoblastoma

Subtypes (8): chylocele of tunica vaginalis, atrophy of testis, testicular infarct, testicular dysgenesis syndrome, orchitis, spermatic cord torsion, neoplasm of testis, acquired testicular failure

Genetics & variants

GWAS landscape

23 GWAS associations across 21 studies. Top hits map to 9 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
chr17:7440584	4e-37		T	0.14
rs77294902	7e-37	TNFSF12	G	0.14
rs11651783	2e-36	Y_RNA - TNFSF12	C	0.14
rs4849183	8e-27	PAX8, PAX8-AS1	G	0.17
chr2:121125878	5e-26		G	0.18
rs2015769	8e-26	PSD4	A	0.16
rs6718024	9e-22	INHBB - LINC01101	C	0.15
rs9414801	2e-20	JMJD1C	G	0.09
rs10995477	5e-20	JMJD1C	T	0.08
chr10:65005399	6e-20		C	0.09
rs56196860	5e-18	FKBP4, ITFG2-AS1	C	0.25
rs1260326	9e-15	GCKR	T	0.07
chr7:155635406	4e-13		G	0.12
rs56157317	4e-11	SHH - Y_RNA	G	0.1
rs117226900	6e-08	GRIN2B	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475696	Verma A	2024	24,723	382,971	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90475697	Verma A	2024	23,813	385,644	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476156	Verma A	2024	7,963	401,936	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477349	Verma A	2024	4,583	97,987	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479906	Verma A	2024	4,583	97,987	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477351	Verma A	2024	4,309	98,931	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479905	Verma A	2024	4,309	98,931	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477348	Verma A	2024	2,691	49,785	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477350	Verma A	2024	2,551	50,284	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478633	Verma A	2024	2,276	100,483	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	0
Tier 3: regulatory	1
Tier 4: intronic/intergenic	12

MAF distribution

Bucket	Variants
common (>=0.05)	13
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	1

Functional consequences

Consequence	Count
intron_variant	5
unknown	4
intergenic_variant	3
missense_variant	2
regulatory_region_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
chr17:7440584				0.237			4e-37	Tier 4: intronic/intergenic
rs77294902	17	7548761	G>A,C	0.194	regulatory_region_variant	TNFSF12	7e-37	Tier 3: regulatory
rs11651783	17	7544593	C>T	0.194	intergenic_variant	Y_RNA - TNFSF12	2e-36	Tier 4: intronic/intergenic
rs4849183	2	113234797	G>A,C,T	0.49	intron_variant	PAX8, PAX8-AS1	8e-27	Tier 4: intronic/intergenic
chr2:121125878				0.425			5e-26	Tier 4: intronic/intergenic
rs2015769	2	113200060	A>G,T	0.441	intron_variant	PSD4	8e-26	Tier 4: intronic/intergenic
rs6718024	2	120367311	C>A,T	0.479	intergenic_variant	INHBB - LINC01101	9e-22	Tier 4: intronic/intergenic
rs9414801	10	63389329	G>A,T	0.451	intron_variant	JMJD1C	2e-20	Tier 4: intronic/intergenic
rs10995477	10	63250912	T>A,C	0.433	intron_variant	JMJD1C	5e-20	Tier 4: intronic/intergenic
chr10:65005399				0.464			6e-20	Tier 4: intronic/intergenic
rs56196860	12	2799164	C>A	0.031	missense_variant	FKBP4, ITFG2-AS1	5e-18	Tier 1: coding
rs1260326	2	27508073	T>A,C,G	0.413	missense_variant	GCKR	9e-15	Tier 1: coding
chr7:155635406				0.455			4e-13	Tier 4: intronic/intergenic
rs56157317	7	155844892	G>C,T	0.458	intergenic_variant	SHH - Y_RNA	4e-11	Tier 4: intronic/intergenic
rs117226900	12	13740135	C>T		intron_variant	GRIN2B	6e-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

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03403777	PHASE2	COMPLETED	Avelumab in Refractory Testicular Germ Cell Cancer.
NCT07324590	Not specified	NOT_YET_RECRUITING	Thermal Imaging in the Diagnosis of Acute Testicular Pain
NCT00012480	Not specified	COMPLETED	Effect of Environmental Exposures on the Egg Fertilizing Ability of Human Sperm
NCT02665182	Not specified	UNKNOWN	Up-positioning of the Testes as Supportive Therapy in Patients With Acute Orchitis
NCT03056027	Not specified	UNKNOWN	Testicular Vascular Evaluation in Patients Undergoing Inguinal Hernia Repair
NCT03426865	Not specified	COMPLETED	Role of Axumin PET Scan in Germ Cell Tumor
NCT05146466	Not specified	COMPLETED	Enhancing Men’s Awareness of Testicular Diseases (E-MAT): A Feasibility Trial
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
AVELUMAB	4	1