Keratoconjunctivitis

Summary

Keratoconjunctivitis (MONDO:0004768) is a disease (an umbrella term covering 7 Mondo subtypes) with 1 GWAS associations across 5 studies and 8 clinical trials. Top therapeutic interventions include tacrolimus anhydrous, fluorometholone, and kio-100. A subtype of keratitis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 7 Mondo subtypes
• GWAS associations: 1
• Clinical trials: 8

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	keratoconjunctivitis
Mondo ID	MONDO:0004768
MeSH	D007637
DOID	DOID:9368
ICD-10-CM	H16.2
NCIT	C34744
SNOMED CT	88151007
UMLS	C0022573
MedGen	44014
Is cancer (heuristic)	no

Data availability: 1 GWAS association (5 studies) · 1 HPO phenotype.

Disease family

This is a subtype of keratitis. 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 disorder › corneal disorder › keratitis › keratoconjunctivitis

Related subtypes (10): macular keratitis, superficial keratitis, photokeratitis, scleroperikeratitis, filamentary keratitis, corneal ulcer, deep keratitis, corneal neovascularization, autosomal dominant keratitis, corneal infection

Subtypes (7): phlyctenulosis, neurotrophic keratoconjunctivitis, punctate epithelial keratoconjunctivitis, epidemic keratoconjunctivitis, exposure keratitis, dry eye syndrome, superior limbic keratoconjunctivitis

Genetics & variants

GWAS landscape

1 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs151115277	1e-08	TWSG1-DT	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477727	Verma A	2024	5,200	435,782	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477726	Verma A	2024	1,892	116,463	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481125	Verma A	2024	1,892	116,463	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477725	Verma A	2024	1,095	56,939	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90651490	Liu TY	2025	136	217,632	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

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	1

MAF distribution

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

Functional consequences

Consequence	Count
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs151115277	18	9332703	T>C		intron_variant	TWSG1-DT	1e-08	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

3 approved. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Cyclosporine	Approved (phase 4)
Hydroxypropyl Cellulose	Approved (phase 4)
Trifluridine	Approved (phase 4)

Clinical trials & evidence

Clinical trials

Clinical trials: 8.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	4
PHASE3	2
PHASE4	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT07588074	PHASE4	COMPLETED	Tolerability Comparison of Flarex to Lotemax SM
NCT00567762	PHASE3	COMPLETED	Phase III Study of 0.1% Tacrolimus(FK506) Ophthalmic Suspension in Patients With Vernal Keratoconjunctivitis
NCT00567918	PHASE3	COMPLETED	Phase III, Long-Term, Open-Label, Extension Study of 0.1% Tacrolimus(FK506) Ophthalmic Suspension in Patients With Vernal Keratoconjunctivitis
NCT03769454	PHASE1	COMPLETED	A Phase I Study of PP-001 Eye Drops in Healthy Adult Volunteers
NCT06746467	Not specified	NOT_YET_RECRUITING	Corneal Topography in Vernal Keratoconjunctivitis
NCT03479853	Not specified	COMPLETED	Clinical, Meibographic and Interferometric Evaluation of Phlyctenular Keratitis in Children - MEIBO-ROSACEE
NCT03706443	Not specified	COMPLETED	Tear Lipid Layer Thickness Changes With Use of Emollient and Non-Emollient Eye Drops
NCT05891106	Not specified	COMPLETED	AONDA Therapeutic Indication Study I

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TACROLIMUS ANHYDROUS	4	2
FLUOROMETHOLONE	4	1
KIO-100	1	1
CHEMBL1716015	0	1