Lacrimal apparatus disorder

Summary

Lacrimal apparatus disorder (MONDO:0001854) is a disease (an umbrella term covering 17 Mondo subtypes) with 14 GWAS associations across 15 studies and 10 clinical trials. Top therapeutic interventions include prasterone. A subtype of eye adnexa disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 17 Mondo subtypes
• GWAS associations: 14
• Clinical trials: 10

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	lacrimal apparatus disorder
Mondo ID	MONDO:0001854
EFO	EFO:0009455
MeSH	D007766
DOID	DOID:1400
NCIT	C26809
SNOMED CT	31053003
UMLS	C0022904
MedGen	5994
Anatomy (UBERON)	UBERON:0001750
Is cancer (heuristic)	no

Also known as: disease of lacrimal apparatus · disease or disorder of lacrimal apparatus · disorder of lacrimal apparatus · disorder of lacrimal system · lacrimal apparatus disease · lacrimal apparatus disease or disorder · lacrimal system disease · lacrimal system disorder

Data availability: 14 GWAS associations (15 studies).

Disease family

This is a subtype of eye adnexa 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 › lacrimal apparatus disorder

Related subtypes (5): eyelid disorder, myopathy of extraocular muscle, disease of orbital part of eye adnexa, conjunctival disorder, ocular adnexal lymphoma

Subtypes (17): lacrimal passage granuloma, eversion of lacrimal punctum, stenosis of lacrimal punctum, stenosis of lacrimal passage, excessive tearing, primary lacrimal atrophy, secondary lacrimal atrophy, lacrimal system cancer, stenosis of lacrimal sac, acute inflammation of lacrimal passage, chronic inflammation of lacrimal passage, dry eye syndrome, IgG4-related dacryoadenitis and sialadenitis, isolated congenital alacrima, disorder of lacrimal gland, nasolacrimal duct disorder, syndromic lacrimal system disorder

Genetics & variants

GWAS landscape

14 GWAS associations across 15 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs184726399	4e-13	LINGO2	A	2.27
rs371574912	4e-12	PREX2	A	2.3
rs565970432	1e-11	SHH - Y_RNA	G	2.86
rs112698981	2e-11	LINC03131 - JKAMPP1	A	0.64
rs79383456	2e-11	TCL6	C	2.45
chr9:7691873	6e-09		T	2.78
chr9:42563035	6e-09		T	1.81
chr22:17113326	1e-08		G	0.09
chr17:80118677	3e-08		T	1.98
chr1:117654253	4e-08		T	2.99
chr18:29900183	4e-08		T	2.82
chr2:183095567	5e-08		T	2.75
chr4:24507554	5e-08		A	0.21
rs186218174	3e-07	QRSL1P1 - XCL2	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473382	UK Biobank Whole-Genome Sequencing Consortium	2025	14,744	443,696	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90667763	UK Biobank Whole-Genome Sequencing Consortium	2025	14,744	443,696	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079878	Backman JD	2021	5,367	373,770	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083864	Backman JD	2021	5,367	373,770	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90726842	Kim HI	2026	4,192	39,834	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90477753	Verma A	2024	2,283	445,602	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90436012	Zhou W	2018	2,218	401,245	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90079877	Backman JD	2021	1,351	386,444	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083863	Backman JD	2021	1,351	386,444	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477752	Verma A	2024	663	120,221	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	14

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	1
rare (<0.01)	4
unknown	9

Functional consequences

Consequence	Count
unknown	8
intron_variant	4
intergenic_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs184726399	9	28144137	A>G	0.001	intron_variant	LINGO2	4e-13	Tier 4: intronic/intergenic
rs371574912	8	68171265	A>C,T	0.001	intron_variant	PREX2	4e-12	Tier 4: intronic/intergenic
rs565970432	7	155926729	G>A	0	intergenic_variant	SHH - Y_RNA	1e-11	Tier 4: intronic/intergenic
rs112698981	9	11719161	A>T	0.014	intron_variant	LINC03131 - JKAMPP1	2e-11	Tier 4: intronic/intergenic
rs79383456	14	95671423	C>T	0.001	non_coding_transcript_exon_variant	TCL6	2e-11	Tier 4: intronic/intergenic
chr9:7691873							6e-09	Tier 4: intronic/intergenic
chr9:42563035							6e-09	Tier 4: intronic/intergenic
chr22:17113326							1e-08	Tier 4: intronic/intergenic
chr17:80118677							3e-08	Tier 4: intronic/intergenic
chr1:117654253							4e-08	Tier 4: intronic/intergenic
chr18:29900183							4e-08	Tier 4: intronic/intergenic
chr2:183095567							5e-08	Tier 4: intronic/intergenic
chr4:24507554							5e-08	Tier 4: intronic/intergenic
rs186218174	1	168471247	G>T		intron_variant	QRSL1P1 - XCL2	3e-07	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

Drugs indicated for this disease

No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bupivacaine, Cyclosporine, Onabotulinumtoxina.

Clinical trials & evidence

Clinical trials

Clinical trials: 10.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	8
PHASE3	1
PHASE2	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03436576	PHASE3	UNKNOWN	Efficacy of Two Concentrations of Autologous Serum for the Treatment of Severe Dry Eye
NCT00001598	PHASE2	COMPLETED	DHEA Treatment for Sjogren’s Syndrome
NCT00706251	Not specified	COMPLETED	Follow up of Nasolacrimal Intubation in Adults
NCT01579344	Not specified	UNKNOWN	Lacrimal Drainage System Obstruction Associated to Radioactive Iodine Therapy for Thyroid Carcinoma
NCT01826734	Not specified	COMPLETED	Analysis of 86 Dacryoliths at the University Hospital Ostrava
NCT02386774	Not specified	COMPLETED	Innovative Imaging of the Conjunctiva, Cornea, and Ocular Adnexa
NCT03706443	Not specified	COMPLETED	Tear Lipid Layer Thickness Changes With Use of Emollient and Non-Emollient Eye Drops
NCT04240431	Not specified	COMPLETED	Level of Lacrimal Passage Obstruction
NCT04968561	Not specified	UNKNOWN	Design of an Augmented Reality System by Integration of CT Scan or MRI Data With Endoscopic Images for Video-assisted Endonasal Endoscopic Surgery
NCT06428266	Not specified	COMPLETED	Closed Dacryointubation vs Bicanalicular Intubation for Proximal Tear Duct Obstruction

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
PRASTERONE	4	1
CHEMBL31399	0	1