Male reproductive system disorder

Summary

Male reproductive system disorder (MONDO:0003150) is a disease (an umbrella term covering 26 Mondo subtypes) with 10 GWAS associations across 34 studies. A subtype of reproductive system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 26 Mondo subtypes
• GWAS associations: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	male reproductive system disorder
Mondo ID	MONDO:0003150
EFO	EFO:0009555
MeSH	D005832
DOID	DOID:48
ICD-10-CM	N40-N53
NCIT	C27019
SNOMED CT	363194005
UMLS	C0236099
MedGen	66734
Anatomy (UBERON)	UBERON:0000079
Is cancer (heuristic)	no

Also known as: disease of male reproductive system · disease or disorder of male reproductive system · disorder of Male reproductive system · disorder of male reproductive system · male reproductive disease · Male reproductive system disease · male reproductive system disease · male reproductive system disease or disorder · Male reproductive system disorder

Data availability: 10 GWAS associations (34 studies).

Disease family

This is a subtype of 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

Related subtypes (29): pelvic organ prolapse, cortisone reductase deficiency, physiological sexual disorder, gonadal disorder, female reproductive system disorder, pituitary gland disorder, infertility disorder, hypospadias, reproductive system neoplasm, dysplasia of cervix, female genital tuberculosis, habitual spontaneous abortion, aromatase excess syndrome, hand-foot-genital syndrome, mullerian duct anomalies-limb anomalies syndrome, Currarino triad, double uterus-hemivagina-renal agenesis syndrome, congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency, congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, spondylocostal dysostosis-anal and genitourinary malformations syndrome, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, estrogen resistance syndrome, short stature, microcephaly, and endocrine dysfunction, diethylstilbestrol syndrome, sexually transmitted disease, NR5A1-related sex development disorder

Subtypes (26): 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, 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

Genetics & variants

GWAS landscape

10 GWAS associations across 34 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs11981089	6e-32	MTND4P6	T	0.21
rs9330811	6e-14	WNT7B	A	0.1
rs139402298	2e-13	PA2G4P2 - LINC01722	C	2.39
rs562347866	8e-13	KLF12 - LINC00402	A	2.74
rs28971325	4e-11	WNT7B	G	0.13
rs145029296	1e-09	RPL6P22 - RPL10AP3	?
rs147038700	1e-08	CISTR - RN7SKP289	?
rs148904781	3e-08	RNF24	?
rs78474861	7e-08	NFU1P1 - MYRIP	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478646	Verma A	2024	11,427	388,785	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90476159	Verma A	2024	7,854	402,580	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080635	Backman JD	2021	5,205	164,191	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084621	Backman JD	2021	5,205	164,191	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90478645	Verma A	2024	4,075	95,402	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480935	Verma A	2024	4,075	95,402	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90080631	Backman JD	2021	3,394	169,501	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084617	Backman JD	2021	3,394	169,501	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90080634	Backman JD	2021	3,016	171,235	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084620	Backman JD	2021	3,016	171,235	Exome sequencing and analysis of 454,787 UK Biobank participants.

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)	4
low_freq (0.01-0.05)	0
rare (<0.01)	2
unknown	3

Functional consequences

Consequence	Count
intron_variant	6
intergenic_variant	2
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs11981089	7	117264174	T>A,C	0.442	non_coding_transcript_exon_variant	MTND4P6	6e-32	Tier 4: intronic/intergenic
rs9330811	22	45966516	A>G	0.408	intron_variant	WNT7B	6e-14	Tier 4: intronic/intergenic
rs139402298	20	12526354	C>T	0.001	intron_variant	PA2G4P2 - LINC01722	2e-13	Tier 4: intronic/intergenic
rs562347866	13	74187375	A>C	0	intergenic_variant	KLF12 - LINC00402	8e-13	Tier 4: intronic/intergenic
rs28971325	22	45971264	G>A	0.227	intron_variant	WNT7B	4e-11	Tier 4: intronic/intergenic
rs145029296	8	34296030	C>G		intron_variant	RPL6P22 - RPL10AP3	1e-09	Tier 4: intronic/intergenic
rs147038700	12	53784459	T>C		intron_variant	CISTR - RN7SKP289	1e-08	Tier 4: intronic/intergenic
rs148904781	20	3984838	T>G		intron_variant	RNF24	3e-08	Tier 4: intronic/intergenic
rs78474861	3	39722260	C>A,G,T	0.05	intergenic_variant	NFU1P1 - MYRIP	7e-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: 0.