Urethral syndrome

Summary

Urethral syndrome (MONDO:0001730) is a disease with 4 GWAS associations across 4 studies. A subtype of urethral disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	urethral syndrome
Mondo ID	MONDO:0001730
DOID	DOID:13498
SNOMED CT	31273004
UMLS	C0156279
MedGen	510225
Is cancer (heuristic)	no

Data availability: 4 GWAS associations (4 studies).

Disease family

This is a subtype of urethral 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 › urinary system disorder › urethral disorder › urethral syndrome

Related subtypes (9): prolapse of urethra, urethral obstruction, urethral intrinsic sphincter deficiency, urethral false passage, urethral calculus, urethral gland abscess, urethritis, fibroepithelial polyp of urethra, urethra neoplasm

Genetics & variants

GWAS landscape

4 GWAS associations across 4 studies. Top hits map to 2 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs532524043	3e-13	LINC01991 - LPP-AS2	C	3.87
rs181444058	3e-13	MAGI2	T	3.18
rs191092101	4e-12	CDK5RAP2	G	3.5
rs563513788	1e-11	CELF2-DT - ORMDL1P1	G	3.24

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90478556	Verma A	2024	865	118,790	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480392	Verma A	2024	865	118,790	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90478557	Verma A	2024	568	448,368	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436435	Zhou W	2018	167	379,936	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	4

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	4
unknown	0

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs532524043	3	188034704	C>T	0	intergenic_variant	LINC01991 - LPP-AS2	3e-13	Tier 4: intronic/intergenic
rs181444058	7	79146448	T>C	0.001	intron_variant	MAGI2	3e-13	Tier 4: intronic/intergenic
rs191092101	9	120390009	G>A	0	intron_variant	CDK5RAP2	4e-12	Tier 4: intronic/intergenic
rs563513788	10	10749065	G>A	0	intron_variant	CELF2-DT - ORMDL1P1	1e-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: 0.