Hydrocele

Summary

Hydrocele (MONDO:0004920) is a disease with 1 cohort gene and 17 clinical trials. Top therapeutic interventions include bupivacaine, cefuroxime, and clonidine.

At a glance

• Cohort genes: 1
• ClinVar variants: 2
• Clinical trials: 17

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	hydrocele
Mondo ID	MONDO:0004920
DOID	DOID:9912
SNOMED CT	55434001
UMLS	C1720771
MedGen	318568
Is cancer (heuristic)	no

Data availability: 2 ClinVar variants.

Disease family

An umbrella term covering 1 Mondo subtype.

Classification path: disease › human disease › disease by body system or component › reproductive system disorder › male reproductive system disorder › hydrocele

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, 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

Subtypes (1): infected hydrocele

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

2 retrieved; paginated sample, class counts are floors:

1 pathogenic, 1 conflicting classifications of pathogenicity

ClinVar	Variant (HGVS)	Gene	Classification	Review
267812	46;XY;t(3;7)(q23;p15.3);inv(10)(p11.23q25.3)dn		Pathogenic	criteria provided, single submitter
523353	NM_000297.4(PKD2):c.2241-14C>T	PKD2	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
PKD2	Orphanet:730	Autosomal dominant polycystic kidney disease

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
PKD2	HGNC:9009	ENSG00000118762	Q13563	Polycystin-2	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
PKD2	Polycystin-2	Forms a nonselective cation channel.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
PKD2	Other/Unknown	no		EF_hand_dom, PKD_2, EF-hand-dom_pair

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
blood vessel layer	1
calcaneal tendon	1
saphenous vein	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
PKD2	288	ubiquitous	marker	blood vessel layer, calcaneal tendon, saphenous vein

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
PKD2	1,644

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PKD2	Q13563	31

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
VxPx cargo-targeting to cilium	1	519.1×	0.002	PKD2

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
metanephric cortex development	1	16852.0×	0.001	PKD2
metanephric cortical collecting duct development	1	16852.0×	0.001	PKD2
metanephric distal tubule development	1	16852.0×	0.001	PKD2
renal artery morphogenesis	1	8426.0×	0.001	PKD2
mesonephric tubule development	1	8426.0×	0.001	PKD2
metanephric smooth muscle tissue development	1	8426.0×	0.001	PKD2
detection of nodal flow	1	5617.3×	0.001	PKD2
cellular response to hydrostatic pressure	1	5617.3×	0.001	PKD2
metanephric part of ureteric bud development	1	4213.0×	0.001	PKD2
renal tubule morphogenesis	1	4213.0×	0.001	PKD2
metanephric ascending thin limb development	1	4213.0×	0.001	PKD2
metanephric S-shaped body morphogenesis	1	4213.0×	0.001	PKD2
mesonephric duct development	1	3370.4×	0.001	PKD2
determination of liver left/right asymmetry	1	2808.7×	0.001	PKD2
metanephric mesenchyme development	1	2407.4×	0.001	PKD2
positive regulation of phospholipase C-activating G protein-coupled receptor signaling pathway	1	2407.4×	0.001	PKD2
regulation of calcium ion import	1	2106.5×	0.002	PKD2
placenta blood vessel development	1	1404.3×	0.002	PKD2
cellular response to fluid shear stress	1	1296.3×	0.002	PKD2
detection of mechanical stimulus	1	1203.7×	0.002	PKD2
cellular response to osmotic stress	1	1203.7×	0.002	PKD2
protein heterotetramerization	1	1053.2×	0.002	PKD2
centrosome duplication	1	936.2×	0.002	PKD2
obsolete inorganic cation transmembrane transport	1	936.2×	0.002	PKD2
embryonic placenta development	1	766.0×	0.003	PKD2
protein tetramerization	1	624.1×	0.003	PKD2
cilium organization	1	601.9×	0.003	PKD2
aorta development	1	561.7×	0.004	PKD2
neural tube development	1	526.6×	0.004	PKD2
spinal cord development	1	510.7×	0.004	PKD2

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
PKD2	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
PKD2	12	Binding:12

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	PKD2

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
PKD2	12	—

Clinical trials & evidence

Clinical trials

Clinical trials: 17.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	15
PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04826484	PHASE3	TERMINATED	Opioid Reduction Initiative During Outpatient Pediatric Urologic Procedures Using Exparel
NCT00130091	PHASE2	COMPLETED	The Addition of Clonidine to 0.2% Ropivacaine for Wound Instillation After Minor Lower Abdominal Surgery in Children
NCT07346742	Not specified	RECRUITING	Prevention of Surgical Site Infection in Open Paediatric Groin Surgeries Using Intravenous Prophylactic Antibiotics and Antimicrobial-coated Sutures
NCT01698268	Not specified	COMPLETED	Study of Transverse Abdominis Plane (TAP) Block in Children Undergoing Hydrocelectomy and/or Hernia Repair Surgery
NCT01872364	Not specified	COMPLETED	Dominican Republic Mission Cost Analysis
NCT01896076	Not specified	COMPLETED	The Caudal Space in Children: Ultrasound Evaluation
NCT02040389	Not specified	COMPLETED	Visual Guidelines and Tutoring in Pediatric Urological Surgery
NCT02064088	Not specified	UNKNOWN	Transversus Abdominis Plane Block in Pediatrics: Volume or Concentration ?
NCT03575377	Not specified	COMPLETED	Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery
NCT03677453	Not specified	COMPLETED	Interactive Perioperative Teaching Platform (IPTP)
NCT04406077	Not specified	COMPLETED	The Use of Ligasure (r) for Hydrocelectomy Surgery
NCT04870242	Not specified	COMPLETED	Studding the Implementation of ERAS Protocols in Pediatric Surgery
NCT05558748	Not specified	UNKNOWN	Comparison of USG-Guided Caudal Versus Ilioinguinal/Iliohypogastric Nerve Block for Pediatric Inguinal Surgeries
NCT05617261	Not specified	UNKNOWN	Evaluating Patient Tolerability and Success for Penile and Scrotal Urologic Procedures Under Conscious Sedation: A Prospective Study
NCT07078123	Not specified	COMPLETED	Hydrocelectomies in Male Donors
NCT07483463	Not specified	COMPLETED	Risk of Hydroceles Following Pyeloplasty
NCT07527637	Not specified	COMPLETED	Risk of Scrotal Hydroceles After Nephrectomy For Kidney Cancer

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BUPIVACAINE	4	2
CEFUROXIME	4	2
CLONIDINE	4	2