Eyelid disorder
diseaseOn this page
Also known as disease of eyeliddisease or disorder of eyeliddisorder of eyelideyelid diseaseeyelid disease or disorder
Summary
Eyelid disorder (MONDO:0003382) is a disease (an umbrella term covering 20 Mondo subtypes) with 12 GWAS associations across 30 studies and 24 clinical trials. Top therapeutic interventions include fluorometholone and 17. 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: 20 Mondo subtypes
- GWAS associations: 12
- Clinical trials: 24
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | eyelid disorder |
| Mondo ID | MONDO:0003382 |
| EFO | EFO:0009547 |
| MeSH | D005141 |
| DOID | DOID:530 |
| ICD-10-CM | H00 |
| NCIT | C26768 |
| SNOMED CT | 60113004 |
| UMLS | C0015423 |
| MedGen | 41938 |
| Anatomy (UBERON) | UBERON:0001711 |
| Is cancer (heuristic) | no |
Also known as: disease of eyelid · disease or disorder of eyelid · disorder of eyelid · eyelid disease · eyelid disease or disorder · eyelid disorder
Data availability: 12 GWAS associations (30 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 › eyelid disorder
Related subtypes (5): lacrimal apparatus disorder, myopathy of extraocular muscle, disease of orbital part of eye adnexa, conjunctival disorder, ocular adnexal lymphoma
Subtypes (20): eyelid degenerative disorder, blepharophimosis, hypertrichosis of eyelid, hypotrichosis of eyelid, entropion, 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
Genetics & variants
GWAS landscape
12 GWAS associations across 30 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 |
|---|---|---|---|---|
| rs10886198 | 1e-35 | CASC2 | A | 0.12 |
| chr2:56040035 | 3e-16 | A | 0.1 | |
| chr14:23993761 | 2e-14 | T | 3.06 | |
| rs76032374 | 2e-14 | PNPT1 - EFEMP1 | A | 0.1 |
| chr1:170631874 | 3e-12 | A | 0.09 | |
| chr6:31420609 | 2e-09 | G | 0.15 | |
| chr9:39564610 | 4e-09 | T | 1.76 | |
| chr12:50534348 | 1e-08 | T | 2.86 | |
| chr12:63589357 | 4e-08 | C | 1.7 | |
| chr9:81607935 | 4e-08 | TCAAA | 2.74 | |
| rs1488573 | 6e-08 | OTOL1 - TOMM22P6 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90475890 | Verma A | 2024 | 31,635 | 393,796 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90473379 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 17,255 | 441,185 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667762 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 17,255 | 441,185 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90079874 | Backman JD | 2021 | 7,325 | 377,441 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083860 | Backman JD | 2021 | 7,325 | 377,441 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436009 | Zhou W | 2018 | 5,726 | 399,306 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90477746 | Verma A | 2024 | 4,518 | 111,994 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480091 | Verma A | 2024 | 4,518 | 111,994 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90077732 | Backman JD | 2021 | 3,583 | 328,171 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90081718 | Backman JD | 2021 | 3,583 | 328,171 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
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 | 11 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 5 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 1 |
| unknown | 5 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 8 |
| intron_variant | 2 |
| intergenic_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs10886198 | 10 | 118063926 | A>G | 0.244 | intron_variant | CASC2 | 1e-35 | Tier 4: intronic/intergenic |
| chr2:56040035 | 0.12 | 3e-16 | Tier 4: intronic/intergenic | |||||
| chr14:23993761 | 0 | 2e-14 | Tier 4: intronic/intergenic | |||||
| rs76032374 | 2 | 55831221 | A>G | 0.097 | intergenic_variant | PNPT1 - EFEMP1 | 2e-14 | Tier 4: intronic/intergenic |
| chr1:170631874 | 0.111 | 3e-12 | Tier 4: intronic/intergenic | |||||
| chr6:31420609 | 2e-09 | Tier 4: intronic/intergenic | ||||||
| chr9:39564610 | 4e-09 | Tier 4: intronic/intergenic | ||||||
| chr12:50534348 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr12:63589357 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chr9:81607935 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| rs1488573 | 3 | 162215526 | T>A,C | 0.05 | intron_variant | OTOL1 - TOMM22P6 | 6e-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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 24.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 17 |
| PHASE4 | 4 |
| PHASE1 | 2 |
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01091311 | PHASE4 | COMPLETED | Evaluation of Satisfaction Regarding Patient’s Management of Ocular Surface Diseases |
| NCT01189474 | PHASE4 | COMPLETED | Evaluation of Satisfaction Regarding Patient’s Management of Ocular Surface Diseases |
| NCT03199911 | PHASE4 | COMPLETED | Topical Antibiotic Prophylaxis for Eyelids |
| NCT05672407 | PHASE4 | WITHDRAWN | The Role of Local Tranexamic Acid on Periorbital Oculoplastic Surgery |
| NCT04149210 | PHASE3 | COMPLETED | FLuorometholone as Adjunctive MEdical Therapy for TT Surgery (FLAME) Trial |
| NCT01086943 | PHASE1 | COMPLETED | Clinical Safety Study on an Eyelid Warming Device to Evaluate the Eyelid and Cornea Temperature in Healthy Volunteers |
| NCT01190397 | PHASE1 | COMPLETED | Warming Efficiency of Warm Compresses Versus BLEPHASTEAM® in Eyelid Therapy |
| NCT04140734 | Not specified | RECRUITING | Spacer Graft Study |
| NCT04921020 | Not specified | RECRUITING | Assessment of Eyelid Topology and Kinetics Based on Deep Learning Method |
| NCT04102878 | Not specified | UNKNOWN | Transconjunctival vs Transcutaneous Anaesthesia in Oculoplastics |
| NCT04201925 | Not specified | UNKNOWN | Functional Changes After Upper Blepharoplasty |
| NCT04235803 | Not specified | UNKNOWN | Telemedicine Follow-up for Routine, Low-Risk Oculoplastic Surgery |
| NCT04255667 | Not specified | UNKNOWN | Eyelid Crush for Marginal Eyelid Surgery |
| NCT04359979 | Not specified | UNKNOWN | Tamsulosin for Thyroid Lid Retraction |
| NCT04538716 | Not specified | COMPLETED | Retroseptal Transconjunctival Blepharoplasty for GIR |
| NCT04554329 | Not specified | COMPLETED | Bandage Contact Lenses Versus Eye Patching of Müller’s Muscle-conjunctival Resection |
| NCT04689230 | Not specified | UNKNOWN | Small Incision Technique Versus Upper Blepharoplasty in Upper Eyelid Medial Pad Fat Removal |
| NCT04720586 | Not specified | UNKNOWN | Surgical Treatment of Lower Eyelid Involutional Entropion and Dermatochalasis |
| NCT04861454 | Not specified | UNKNOWN | Brassiere Brow Suture and Internal Browpexy |
| NCT04898933 | Not specified | COMPLETED | Lacrimal Deroofing for Epiphora From Punctal Abnormalities |
| NCT05016362 | Not specified | UNKNOWN | Medial Fat Pad Preservation in Upper Eyelid Blepharoplasty |
| NCT05750251 | Not specified | COMPLETED | Effect of Upper Eyelid Surgeries on Corneal Characteristics |
| NCT05945069 | Not specified | COMPLETED | Feasibility of Dynamic Muscle Stimulation + Radiofrequency for Improving Blink Quality in Subjects with Dry Eye Disease |
| NCT06279143 | Not specified | COMPLETED | The Diagnostic Accuracy of Advanced Imaging in Identifying Suspected Skin Cancer (Basal Cell Carcinoma) Around the Eyes |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| FLUOROMETHOLONE | 4 | 1 |
| CHEMBL1716015 | 0 | 1 |
| 17 | 0 | 1 |
Related Atlas pages
- Drugs: Fluorometholone