Lagophthalmos

Summary

Lagophthalmos (MONDO:0001604) is a disease with 6 GWAS associations across 3 studies and 3 clinical trials. A subtype of eyelid disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 6
• Clinical trials: 3

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lagophthalmos
Mondo ID	MONDO:0001604
DOID	DOID:12959
ICD-10-CM	H02.2
ICD-11	1200365909
SNOMED CT	60735000
UMLS	C0152226
MedGen	57517
Is cancer (heuristic)	no

Data availability: 6 GWAS associations (3 studies).

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 › lagophthalmos

Related subtypes (19): eyelid degenerative disorder, blepharophimosis, hypertrichosis of eyelid, hypotrichosis of eyelid, entropion, 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 (3): paralytic lagophthalmos, mechanical lagophthalmos, cicatricial lagophthalmos

Genetics & variants

GWAS landscape

6 GWAS associations across 3 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs564702065	2e-12	RAB33B-AS1	A	3.12
rs183393710	8e-12	PID1	G	2.86
rs568943075	1e-11	TOX	T	3.23
rs574831226	2e-11	TTC6	G	2.86
rs539326826	2e-11	DENND1A	C	3.05
rs184002647	4e-11	LINC00858 - CCSER2	G	2.46

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477748	Verma A	2024	966	448,908	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480088	Verma A	2024	236	121,263	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481933	Verma A	2024	236	121,263	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	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	6

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	6
unknown	0

Functional consequences

Consequence	Count
intron_variant	5
intergenic_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs564702065	4	139444119	A>T	0.001	intron_variant	RAB33B-AS1	2e-12	Tier 4: intronic/intergenic
rs183393710	2	229084479	G>A,T	0.001	intron_variant	PID1	8e-12	Tier 4: intronic/intergenic
rs568943075	8	58929589	T>C	0	intron_variant	TOX	1e-11	Tier 4: intronic/intergenic
rs574831226	14	37629043	G>A	0	intron_variant	TTC6	2e-11	Tier 4: intronic/intergenic
rs539326826	9	123818265	C>G,T	0.001	intron_variant	DENND1A	2e-11	Tier 4: intronic/intergenic
rs184002647	10	84320073	G>A	0.001	intergenic_variant	LINC00858 - CCSER2	4e-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: 3.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT02988856	Not specified	COMPLETED	Magnetic Correction of Eye Lid Paralysis
NCT03239418	Not specified	TERMINATED	NMES to Improve Eyelid Functions in Cranial Nerve (CN) III and VII Palsy
NCT05183282	Not specified	COMPLETED	Nictavi Tarsus Patch for Managing Lagophthalmos