Lupus erythematosus
diseaseOn this page
Also known as lupus
Summary
Lupus erythematosus (MONDO:0004670) is a disease with 3 GWAS associations across 5 studies and 88 clinical trials. Top therapeutic interventions include cyclophosphamide anhydrous, deucravacitinib, and azathioprine. A subtype of rheumatic disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 3
- Clinical trials: 88
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | lupus erythematosus |
| Mondo ID | MONDO:0004670 |
| DOID | DOID:8857 |
| ICD-10-CM | L93 |
| ICD-11 | 1443317238 |
| NCIT | C27153 |
| SNOMED CT | 200936003 |
| UMLS | C0409974 |
| MedGen | 98043 |
| Is cancer (heuristic) | no |
Also known as: lupus · lupus erythematosus
Data availability: 3 GWAS associations (5 studies).
Disease family
This is a subtype of rheumatic 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 › connective tissue disorder › rheumatic disorder › lupus erythematosus
Related subtypes (29): palindromic rheumatism, rheumatic pulmonary valve disease, mixed connective tissue disease, Reye syndrome, Wissler syndrome, acroosteolysis dominant type, chondrocalcinosis 2, Gorham-Stout disease, rheumatoid arthritis, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, juvenile idiopathic arthritis, sweet syndrome, dermatomyositis, IL10-related early-onset inflammatory bowel disease, unexplained long-lasting fever/inflammatory syndrome, myalgia-eosinophilia syndrome associated with tryptophan, reactive arthritis, rheumatic fever, intermittent hydrarthrosis, fibroblastic rheumatism, interstitial granulomatous dermatitis with arthritis, scleroderma, idiopathic juvenile osteoporosis, polymyalgia rheumatica, autoinflammatory syndrome, progeria-associated arthropathy, LAMA5-related multisystemic syndrome, rheumatic disease of mitral valve, isolated sternocostoclavicular hyperostosis
Subtypes (3): cutaneous lupus erythematosus, systemic lupus erythematosus, drug-induced lupus erythematosus
Genetics & variants
GWAS landscape
3 GWAS associations across 5 studies. Top hits map to 4 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs117026326 | 3e-51 | GTF2I-AS1, GTF2I | ? | |
| rs2849018 | 1e-13 | TSBP1, TSBP1-AS1 | ? | 1.61 |
| rs76430090 | 9e-09 | VN1R18P - RN7SKP224 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90651142 | Liu TY | 2025 | 2,804 | 218,376 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90473984 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 458 | 457,982 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90651448 | Liu TY | 2025 | 155 | 218,376 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90727067 | Kim HI | 2026 | 135 | 43,891 | Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity. |
| GCST90837467 | Koyama S | 2025 | 0 | 0 | Genetics and context for precision health in Greater Boston. |
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 | 3 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs117026326 | 7 | 74711703 | C>T | 0.05 | intron_variant | GTF2I-AS1, GTF2I | 3e-51 | Tier 4: intronic/intergenic |
| rs2849018 | 6 | 32343086 | T>C | 0.05 | intron_variant | TSBP1, TSBP1-AS1 | 1e-13 | Tier 4: intronic/intergenic |
| rs76430090 | 2 | 48074359 | G>A | intron_variant | VN1R18P - RN7SKP224 | 9e-09 | 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: 88.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 54 |
| PHASE1 | 15 |
| PHASE2 | 8 |
| PHASE1/PHASE2 | 5 |
| PHASE4 | 3 |
| PHASE3 | 1 |
| PHASE2/PHASE3 | 1 |
| EARLY_PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03543839 | PHASE4 | RECRUITING | Trial of Belimumab in Early Lupus |
| NCT07077486 | PHASE4 | RECRUITING | Effects of Telitacicept vs Cyclophosphamide on Lupus Related Interstitial Lung Disease |
| NCT03098823 | PHASE4 | COMPLETED | A Crossover Study to Compare RAYOS to IR Prednisone to Improve Fatigue and Morning Symptoms for SLE |
| NCT00053560 | PHASE3 | UNKNOWN | To Assess Prevention of Bone Loss in Women With Lupus Receiving Treatment With Glucocorticoids |
| NCT05686746 | PHASE2/PHASE3 | UNKNOWN | Use of Baricitenib to Maintain of Remission |
| NCT03673748 | PHASE2 | RECRUITING | Treatment of Lupus Nephritis With Allogeneic Mesenchymal Stem Cells |
| NCT06434363 | PHASE1/PHASE2 | RECRUITING | Phase I/II Study of AD-PluReceptor Plus Tafasitamab-cxix and Lymphodepleting Chemotherapy in Patients With Autoimmune Disorders |
| NCT06839976 | PHASE1/PHASE2 | RECRUITING | CD19-Directed Chimeric Antigen Receptor Autologous T Cells (CART19) for Lupus |
| NCT07598396 | PHASE2 | RECRUITING | A Study to Evaluate Mosunetuzumab in Participants With Systemic Lupus Erythematosus With or Without Active Lupus Nephritis |
| NCT00054938 | PHASE2 | COMPLETED | Prevention of Atherosclerosis and Heart Disease in Patients With Systemic Lupus Erythematosis (SLE) |
| NCT00068874 | PHASE2 | COMPLETED | Improving Quality of Life for African American Female Adolescents With Lupus |
| NCT00657189 | PHASE2 | COMPLETED | A Study to Evaluate Safety and Tolerability of Subcutaneous Doses of MEDI-545 in Subjects With Lupus |
| NCT00710021 | PHASE2 | COMPLETED | Vitamin D3 in Systemic Lupus Erythematosus |
| NCT02080195 | PHASE1/PHASE2 | TERMINATED | Nonmyeloablative Conditioning and Transplantation for Patients With Refractory Systemic Lupus Erythematosus (SLE) |
| NCT02265744 | PHASE2 | COMPLETED | Safety and Efficacy Study of a Biologic to Treat Systemic Lupus Erythematosus |
| NCT03093402 | PHASE2 | COMPLETED | JBT-101 in Systemic Lupus Erythematosus (SLE) |
| NCT03562065 | PHASE1/PHASE2 | UNKNOWN | Treatment of Refractory Systemic Lupus Erythematosus by Allogeneic Mesenchymal Stem Cells Derived From the Umbilical Cord |
| NCT05921058 | PHASE1/PHASE2 | COMPLETED | The Effects of Mesenchymal Stem Cell Secretome in Lupus Patients |
| NCT05018858 | PHASE1 | RECRUITING | Safety of Cultured Allogeneic Adult Umbilical Cord Derived Mesenchymal Stem Cell Intravenous Infusion for Lupus |
| NCT06294236 | PHASE1 | ACTIVE_NOT_RECRUITING | Study Evaluating SC291 in Subjects With Severe r/r B-cell Mediated Autoimmune Diseases (GLEAM) |
| NCT06737380 | PHASE1 | RECRUITING | UC-MSC Cell Therapy Study for Systemic Lupus Erythematosus (SLE) Patients |
| NCT07262983 | PHASE1 | RECRUITING | Evaluating the Safety and Tolerability of Baricitinib in Patients With Job Syndrome With Lupus-Like Disease and/or Atopic Dermatitis |
| NCT00299819 | PHASE1 | COMPLETED | Safety and Tolerability of MEDI-545 in Patients Who Have Systemic Lupus Erythematosus (SLE) |
| NCT00482989 | PHASE1 | COMPLETED | A Study to Evaluate the Safety and Tolerability of Multiple Intravenous Doses of MEDI 545 in Patients With Systemic Lupus Erythematosus |
| NCT01164917 | PHASE1 | TERMINATED | Safety Study of AMG 811 in Subjects With Discoid Lupus Erythematosus |
| NCT01389895 | PHASE1 | TERMINATED | Safety Study of AMG 557 in Subjects With Subacute Cutaneous Lupus Erythematosus |
| NCT01686555 | PHASE1 | COMPLETED | A Study to Evaluate the Safety, Tolerability and Pharmacokinetics of ABT-199 in Female Patients With Systemic Lupus Erythematosus (SLE) |
| NCT03402087 | PHASE1 | COMPLETED | A Study to Investigate BMS-986165 and Methotrexate in Healthy Male Patients |
| NCT04065932 | PHASE1 | COMPLETED | A Study to Determine the Pharmacokinetic Profile of BMS-986165 Tablets |
| NCT04128579 | PHASE1 | COMPLETED | Study of EQ001 (Itolizumab) in Systemic Lupus Erythematosus With or Without Active Proliferative Nephritis |
| NCT06013995 | PHASE1 | COMPLETED | A Study to Investigate the Safety, Tolerability, Drug Levels and Drug Effects of BMS-986326 in Adult Participants With Different Forms of Lupus |
| NCT06041568 | PHASE1 | TERMINATED | A Study of Imvotamab in Severe Systemic Lupus Erythematosus |
| NCT06752876 | PHASE1 | WITHDRAWN | CRISPR-Edited Allogeneic Anti-CD19 CAR-T Cell Therapy, in Patients With Refractory Systemic Lupus Erythematosus (GALLOP) |
| NCT07107659 | EARLY_PHASE1 | RECRUITING | Safety and Efficacy of ONT01 in Lupus |
| NCT01266915 | Not specified | RECRUITING | Cutaneous Lupus Registry |
| NCT03952624 | Not specified | RECRUITING | Patient-Centered Assessment of Symptoms and Outcomes |
| NCT04334031 | Not specified | RECRUITING | Deployment o the Multidisciplinary Prospective Cohort Imminent |
| NCT04806620 | Not specified | RECRUITING | Unhide® Project: A Digital Health Platform to Collect Lifestyle Data for Brain Inflammation Research |
| NCT05097365 | Not specified | ENROLLING_BY_INVITATION | Methyl-donor Nutrient Supplementation and Methylation Profile in Lupus Patients With Obesity |
| NCT05251415 | Not specified | RECRUITING | Clinico-biological Collection to Investigate the Physiopathology of Systemic Autoimmune Diseases |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| CYCLOPHOSPHAMIDE ANHYDROUS | 4 | 3 |
| DEUCRAVACITINIB | 4 | 2 |
| AZATHIOPRINE | 4 | 1 |
| BARICITINIB | 4 | 1 |
| BELIMUMAB | 4 | 1 |
| CYANOCOBALAMIN | 4 | 1 |
| FAMOTIDINE | 4 | 1 |
| LEFLUNOMIDE | 4 | 1 |
| MOSUNETUZUMAB | 4 | 1 |
| PRASTERONE | 4 | 1 |
| PRAVASTATIN | 4 | 1 |
| PREDNISONE | 4 | 1 |
| RAMIPRIL | 4 | 1 |
| TAFASITAMAB | 4 | 1 |
| TISAGENLECLEUCEL | 4 | 1 |
| LENABASUM | 3 | 1 |
| SIFALIMUMAB | 2 | 2 |
| IMVOTAMAB | 2 | 1 |
| LULIZUMAB PEGOL | 2 | 1 |
| CHEMBL15720 | 0 | 1 |
| CHEMBL5427854 | 0 | 1 |
| CHEMBL4303681 | 0 | 1 |
| VITAMIN B12 | 0 | 1 |