Scleritis
diseaseOn this page
Also known as scleritis (disease)
Summary
Scleritis (MONDO:0001718) is a disease (an umbrella term covering 8 Mondo subtypes) with 2 GWAS associations across 3 studies and 13 clinical trials. Top therapeutic interventions include rituximab, tofacitinib, and gevokizumab. A subtype of scleral disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 8 Mondo subtypes
- GWAS associations: 2
- Clinical trials: 13
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | scleritis |
| Mondo ID | MONDO:0001718 |
| MeSH | D015423 |
| DOID | DOID:13452 |
| ICD-10-CM | H15.0 |
| ICD-11 | 2097802831 |
| NCIT | C119046 |
| SNOMED CT | 78370002 |
| UMLS | C0036416 |
| MedGen | 48585 |
| Is cancer (heuristic) | no |
Also known as: scleritis · scleritis (disease)
Data availability: 2 GWAS associations (3 studies) · 1 HPO phenotype.
Disease family
An umbrella term covering 8 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › disorder of orbital region › eye disorder › scleral disorder › scleritis
Related subtypes (6): ring staphyloma, episcleritis periodica fugax, localized anterior staphyloma, equatorial staphyloma, staphyloma posticum, nodular episcleritis
Subtypes (8): posterior scleritis, anterior scleritis, scleroperikeratitis, panophthalmitis, necrotizing scleritis, infectious scleritis, idiopathic scleritis, immune-mediated scleritis
Genetics & variants
GWAS landscape
2 GWAS associations across 3 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 |
|---|---|---|---|---|
| rs560322937 | 6e-13 | SLC38A4, SLC38A4-AS1 | G | 2.43 |
| rs537872607 | 4e-11 | LINC01060 | G | 3.13 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90477778 | Verma A | 2024 | 1,083 | 449,340 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90477777 | Verma A | 2024 | 732 | 120,665 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480098 | Verma A | 2024 | 732 | 120,665 | 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 | 2 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 2 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 2 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs560322937 | 12 | 46828316 | G>T | 0.001 | intron_variant | SLC38A4, SLC38A4-AS1 | 6e-13 | Tier 4: intronic/intergenic |
| rs537872607 | 4 | 188604817 | G>A | 0 | intron_variant | LINC01060 | 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
Drugs indicated for this disease
0 approved, 1 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Infliximab | Phase 3 (in late-stage trials) |
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Corticotropin.
Clinical trials & evidence
Clinical trials
Clinical trials: 13.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 5 |
| PHASE1/PHASE2 | 3 |
| PHASE2 | 2 |
| PHASE1 | 2 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02764697 | PHASE4 | COMPLETED | Study of H.P. ACTHAR Subcutaneous Gelatin (Gel)(Highly Purified Gel Injection) in Uveitis Patients |
| NCT00415506 | PHASE1/PHASE2 | COMPLETED | Rituximab in the Treatment of Scleritis and Non-Infectious Orbital Inflammation |
| NCT01517074 | PHASE1/PHASE2 | COMPLETED | Sirolimus Injections for Autoimmune Scleritis |
| NCT01835132 | PHASE1/PHASE2 | COMPLETED | Gevokizumab for Active Scleritis |
| NCT03465111 | PHASE2 | UNKNOWN | A Clinical Study to Evaluate the Potential Role of ACTH Gel in Patients With Scleritis |
| NCT03580343 | PHASE2 | UNKNOWN | Tofacitinib for Inflammatory Eye Disease |
| NCT00075075 | PHASE1 | COMPLETED | Infliximab to Treat Non-Infectious Scleritis |
| NCT00367692 | PHASE1 | TERMINATED | Study Evaluating PSI-697 in Patients With Scleritis |
| NCT05200715 | Not specified | RECRUITING | AutoInflammatory Disease Alliance Registry (AIDA) |
| NCT00539370 | Not specified | TERMINATED | Human Samples and Data Repository |
| NCT01613963 | Not specified | UNKNOWN | Causes of Visual Loss in Retinal Disease |
| NCT03660618 | Not specified | TERMINATED | LSFG-SKIN, Laser Speckle Flowgraphy |
| NCT03753893 | Not specified | COMPLETED | Ocular Manifestations in Rheumatic Diseases |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| RITUXIMAB | 4 | 1 |
| TOFACITINIB | 4 | 1 |
| GEVOKIZUMAB | 3 | 1 |
| PSI-697 | 1 | 1 |
Related Atlas pages
- Drugs: Rituximab, Tofacitinib, Gevokizumab