Phimosis

Summary

Phimosis (MONDO:0006904) is a disease with 1 cohort gene and 12 clinical trials. Top therapeutic interventions include betamethasone and hydrocortisone.

At a glance

• Cohort genes: 1
• ClinVar variants: 1
• Clinical trials: 12

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	phimosis
Mondo ID	MONDO:0006904
EFO	EFO:1001104
MeSH	D010688
DOID	DOID:2712
ICD-10-CM	N47.1
ICD-11	184957512
NCIT	C26852
SNOMED CT	449826002
UMLS	C0345326
MedGen	87496
MedDRA	10034878
Is cancer (heuristic)	no

Data availability: 1 ClinVar variant.

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 › penile disorder › phimosis

Related subtypes (6): erectile dysfunction, balanitis, leukoplakia of penis, penile neoplasm, posthitis, vascular disorder of penis

Subtypes (1): paraphimosis

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

1 retrieved; paginated sample, class counts are floors:

1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1339481	NM_002204.4(ITGA3):c.1766G>C (p.Arg589Pro)	ITGA3	Uncertain significance	criteria provided, multiple submitters, no conflicts

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
ITGA3	Orphanet:306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome

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
ITGA3	HGNC:6139	ENSG00000005884	P26006	Integrin alpha-3	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ITGA3	Integrin alpha-3	Integrin alpha-3/beta-1 is a receptor for fibronectin, laminin, collagen, epiligrin, thrombospondin and CSPG4.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Antibody/Immunoglobulin	1	29.2×	0.034

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
ITGA3	Antibody/Immunoglobulin	yes		Integrin_alpha, FG-GAP, Int_alpha_beta-p

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
metanephric glomerulus	1
right coronary artery	1
upper lobe of left lung	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ITGA3	149	ubiquitous	marker	metanephric glomerulus, right coronary artery, upper lobe of left lung

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ITGA3	2,079

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ITGA3	P26006	83.88

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 11. 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
MET promotes cell motility	1	601.0×	0.007	ITGA3
Basigin interactions	1	439.2×	0.007	ITGA3
Laminin interactions	1	380.7×	0.007	ITGA3
MET activates PTK2 signaling	1	380.7×	0.007	ITGA3
Signaling by MET	1	317.2×	0.007	ITGA3
Integrin cell surface interactions	1	134.3×	0.014	ITGA3
Cell surface interactions at the vascular wall	1	95.2×	0.017	ITGA3
Extracellular matrix organization	1	63.1×	0.022	ITGA3
Signaling by Receptor Tyrosine Kinases	1	51.7×	0.024	ITGA3
Hemostasis	1	36.0×	0.031	ITGA3
Signal Transduction	1	10.2×	0.098	ITGA3

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
negative regulation of cell projection organization	1	5617.3×	0.002	ITGA3
response to gonadotropin	1	5617.3×	0.002	ITGA3
renal filtration	1	5617.3×	0.002	ITGA3
nephron development	1	1872.4×	0.003	ITGA3
mesodermal cell differentiation	1	1532.0×	0.003	ITGA3
dendritic spine maintenance	1	1296.3×	0.003	ITGA3
regulation of BMP signaling pathway	1	1203.7×	0.003	ITGA3
maternal process involved in female pregnancy	1	936.2×	0.003	ITGA3
regulation of Wnt signaling pathway	1	887.0×	0.003	ITGA3
regulation of transforming growth factor beta receptor signaling pathway	1	802.5×	0.003	ITGA3
negative regulation of Rho protein signal transduction	1	766.0×	0.003	ITGA3
exploration behavior	1	648.1×	0.004	ITGA3
leukocyte migration	1	624.1×	0.004	ITGA3
synaptic membrane adhesion	1	581.1×	0.004	ITGA3
positive regulation of cell-substrate adhesion	1	495.6×	0.004	ITGA3
skin development	1	443.5×	0.004	ITGA3
positive regulation of epithelial cell migration	1	411.0×	0.004	ITGA3
positive regulation of protein localization to plasma membrane	1	271.8×	0.006	ITGA3
Rho protein signal transduction	1	247.8×	0.006	ITGA3
lung development	1	198.3×	0.007	ITGA3
memory	1	183.2×	0.008	ITGA3
cell-matrix adhesion	1	163.6×	0.008	ITGA3
integrin-mediated signaling pathway	1	160.5×	0.008	ITGA3
positive regulation of neuron projection development	1	137.0×	0.009	ITGA3
neuron migration	1	133.8×	0.009	ITGA3
cell-cell adhesion	1	101.5×	0.011	ITGA3
heart development	1	78.8×	0.014	ITGA3
response to xenobiotic stimulus	1	69.1×	0.015	ITGA3
positive regulation of gene expression	1	38.7×	0.026	ITGA3

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
ITGA3	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
ITGA3	5	Binding:5

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	1	ITGA3
E	Difficult family or no structure, no drug	0

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)
ITGA3	5	—

Clinical trials & evidence

Clinical trials

Clinical trials: 12.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE4	3
PHASE2	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT00933023	PHASE4	WITHDRAWN	Mild Versus Potent Corticosteroids as Treatment for Phimosis in Children
NCT01108198	PHASE4	UNKNOWN	Treatment of Phimosis With Topical Steroid Cream -Double-blind, Randomized, Placebo-controlled Study
NCT05708989	PHASE4	WITHDRAWN	Caudal vs. Pudendal Block in Peds GU
NCT04646967	PHASE2	COMPLETED	An Evaluation of Pain Outcomes of Ketorolac Administration in Children Undergoing Circumcision
NCT02973958	PHASE1	COMPLETED	Evaluating Pain Outcomes of Ketorolac Administration in Children Undergoing Circumcision
NCT01483313	Not specified	WITHDRAWN	Intelligence Changes Following Minor Surgery
NCT01794221	Not specified	COMPLETED	The Role of 2-octyl Cyanoacrylate in Prevention of Recurrent Adhesions After Circumcision
NCT03931850	Not specified	UNKNOWN	Does Neurostimulation Improve Efficacy for Ultrasound-Guided Transperineal Pudendal Nerve Block In Children
NCT04698434	Not specified	COMPLETED	The Best Dose of Esketamine for Day Surgery of Pediatric Circumcision Pediatric Circumcision
NCT04755803	Not specified	COMPLETED	A Prospective Registry of Patients With Congenital Penile Anomalies
NCT04902898	Not specified	UNKNOWN	Safety and Efficacy of the Sterile Single-use Circular Stapling Device CIRCCURER II (Jiangxi Langhe Medical Instrument Co., Ltd., Guangzhou, China)
NCT06487494	Not specified	COMPLETED	Evaluating the Efficacy of 2-Octyl Cyanoacrylate (2-OCA) With Four Interrupted Sutures in Adult Male Circumcision

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BETAMETHASONE	4	1
HYDROCORTISONE	4	1