Entropion

Summary

Entropion (MONDO:0001519) is a disease (an umbrella term covering 5 Mondo subtypes) with 3 GWAS associations across 7 studies and 10 clinical trials. Top therapeutic interventions include brimonidine and sevoflurane. A subtype of eyelid disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 5 Mondo subtypes
• GWAS associations: 3
• ClinVar variants: 1
• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	entropion
Mondo ID	MONDO:0001519
MeSH	D004774
DOID	DOID:12397
SNOMED CT	33168009
UMLS	C0014390
MedGen	41813
Is cancer (heuristic)	no

Also known as: entropion · entropion (disease)

Data availability: 1 ClinVar variant · 3 GWAS associations (7 studies) · 1 HPO phenotype.

Disease family

This is a subtype of eyelid 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 › disorder of orbital region › eye adnexa disorder › eyelid disorder › entropion

Related subtypes (19): eyelid degenerative disorder, blepharophimosis, hypertrichosis of eyelid, hypotrichosis of eyelid, lagophthalmos, stenosis of lacrimal punctum, stenosis of lacrimal passage, ectropion, eyelid neoplasm, blepharochalasis, blepharitis, eyelid hypopigmentation, telecanthus, cryptophthalmia, epiblepharon, congenital eyelid retraction, herpes zoster with dermatitis of eyelid, eyelid seborrheic keratosis, dermatosis of eyelid

Subtypes (5): spastic entropion, senile entropion, mechanical entropion, cicatricial entropion, congenital entropion

Genetics & variants

GWAS landscape

3 GWAS associations across 7 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
rs1805007	4e-13	MC1R	C	0.2
rs139944115	3e-07	RBM47	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475891	Verma A	2024	7,583	436,751	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90043795	Jiang L	2021	1,074	455,274	A generalized linear mixed model association tool for biobank-scale data.
GCST90436010	Zhou W	2018	1,068	399,306	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90652086	Liu TY	2025	1,057	217,632	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.
GCST90477747	Verma A	2024	787	119,833	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480087	Verma A	2024	787	119,833	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481932	Verma A	2024	448	58,932	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	1
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	1

MAF distribution

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

Functional consequences

Consequence	Count
missense_variant	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1805007	16	89919709	C>A,G,T	0.082	missense_variant	MC1R	4e-13	Tier 1: coding
rs139944115	4	40508236	T>G		intron_variant	RBM47	3e-07	Tier 4: intronic/intergenic

ClinVar germline variants

1 retrieved; paginated sample, class counts are floors:

1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
267941	46;XY;inv(6)(p22q13)dn		Pathogenic	criteria provided, single submitter

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: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	7
PHASE4	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02761083	PHASE4	WITHDRAWN	PMCF-study Using Novosyn® Quick Suture Material in Ophthalmic Surgery
NCT04724512	PHASE4	SUSPENDED	SUSY Study (SUture StudY) Comparing Scarring With Polypropylene vs Polyglactin 910 Sutures
NCT05480098	PHASE4	WITHDRAWN	Brimonidine for Intraoperative Hemostasis
NCT02638610	Not specified	UNKNOWN	Assessment of Changes of Periocular Skin Sensation Following Eyelid and Ocular Surface Surgeries
NCT02916407	Not specified	COMPLETED	The Effect of Preoperative Ketamine on the Emergence Characteristics in Children Undergoing Entropion Surgery
NCT04235803	Not specified	UNKNOWN	Telemedicine Follow-up for Routine, Low-Risk Oculoplastic Surgery
NCT05371626	Not specified	UNKNOWN	Cicatricial Upper Eyelid Entropion Management
NCT05854420	Not specified	COMPLETED	Modified Anterior Lamellar Recession for All Grades of Upper Eyelid Trachomatous Cicatricial Entropion
NCT05891106	Not specified	COMPLETED	AONDA Therapeutic Indication Study I
NCT05956535	Not specified	COMPLETED	Air Optix® Night and Day® Aqua Therapeutic Wear

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BRIMONIDINE	4	4
SEVOFLURANE	4	1