Rheumatic disorder
diseaseOn this page
Also known as disease, rheumaticdiseases, rheumaticenthesopathiesenthesopathyrheumatic diseaserheumatismrheumatologic disorder
Summary
Rheumatic disorder (MONDO:0005554) is a disease (an umbrella term covering 30 Mondo subtypes) with 10 GWAS associations across 17 studies and 172 clinical trials. Top therapeutic interventions include abatacept, azathioprine, and belimumab. A subtype of connective tissue disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 30 Mondo subtypes
- GWAS associations: 10
- Clinical trials: 172
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | rheumatic disorder |
| Mondo ID | MONDO:0005554 |
| EFO | EFO:0005755 |
| MeSH | D012216 |
| DOID | DOID:1575 |
| NCIT | C27204 |
| SNOMED CT | 396332003 |
| UMLS | C0009326 |
| MedGen | 3157 |
| Is cancer (heuristic) | no |
Also known as: disease, rheumatic · diseases, rheumatic · enthesopathies · enthesopathy · rheumatic disease · rheumatism · rheumatologic disorder
Data availability: 10 GWAS associations (17 studies).
Disease family
This is a subtype of connective tissue 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
Related subtypes (15): benign connective and soft tissue neoplasm, ochronosis disorder, enthesopathy, synovitis, collagenopathy, fasciitis, interstitial keratitis, periostitis, panniculitis, ainhum, overlapping connective tissue disease, interstitial cystitis, connective tissue neoplasm, hereditary disorder of connective tissue, disease of the tendon
Subtypes (30): palindromic rheumatism, rheumatic pulmonary valve disease, lupus erythematosus, 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
Genetics & variants
GWAS landscape
10 GWAS associations across 17 studies. Top hits map to 7 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| rs72801859 | 4e-14 | RBL2, AKTIP | C | 4.84 |
| rs140519266 | 2e-13 | SDK2 | C | 3.46 |
| rs142402524 | 3e-12 | LINC02772 - FCRL5 | G | 4.73 |
| rs192887006 | 9e-12 | ROBO2P1 - RN7SL292P | A | 3.61 |
| rs182047650 | 1e-11 | MDN1 | G | 4.8 |
| rs551313385 | 2e-11 | CBX4 - LINC01979 | G | 3.22 |
| rs780633213 | 3e-11 | ACADSB - HMX3 | C | 4.03 |
| rs181568234 | 4e-11 | WWOX | A | 2.48 |
| rs572357810 | 5e-11 | FHIT - PTPRG | T | 5.12 |
| rs185528279 | 1e-08 | CDSN, PSORS1C1 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478966 | Verma A | 2024 | 1,732 | 448,852 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90651496 | Liu TY | 2025 | 1,546 | 210,582 | Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population. |
| GCST90079959 | Backman JD | 2021 | 1,144 | 386,786 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083945 | Backman JD | 2021 | 1,144 | 386,786 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90080543 | Backman JD | 2021 | 1,093 | 386,775 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90084529 | Backman JD | 2021 | 1,093 | 386,775 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90436693 | Zhou W | 2018 | 1,010 | 378,711 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90079958 | Backman JD | 2021 | 732 | 387,198 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90083944 | Backman JD | 2021 | 732 | 387,198 | Exome sequencing and analysis of 454,787 UK Biobank participants. |
| GCST90080542 | Backman JD | 2021 | 657 | 387,273 | 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 | 1 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 9 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 0 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 9 |
| unknown | 1 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 7 |
| intergenic_variant | 2 |
| 3_prime_UTR_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs72801859 | 16 | 53490742 | C>G | 0.001 | 3_prime_UTR_variant | RBL2, AKTIP | 4e-14 | Tier 2: splice/UTR |
| rs140519266 | 17 | 73484110 | C>T | 0.001 | intron_variant | SDK2 | 2e-13 | Tier 4: intronic/intergenic |
| rs142402524 | 1 | 157332951 | G>A | 0.001 | intergenic_variant | LINC02772 - FCRL5 | 3e-12 | Tier 4: intronic/intergenic |
| rs192887006 | 7 | 51705755 | A>G | 0.002 | intron_variant | ROBO2P1 - RN7SL292P | 9e-12 | Tier 4: intronic/intergenic |
| rs182047650 | 6 | 89808945 | G>A,T | 0.001 | intron_variant | MDN1 | 1e-11 | Tier 4: intronic/intergenic |
| rs551313385 | 17 | 79850109 | G>A | 0 | intron_variant | CBX4 - LINC01979 | 2e-11 | Tier 4: intronic/intergenic |
| rs780633213 | 10 | 123106494 | C>G,T | 0 | intergenic_variant | ACADSB - HMX3 | 3e-11 | Tier 4: intronic/intergenic |
| rs181568234 | 16 | 78922369 | A>G | 0.001 | intron_variant | WWOX | 4e-11 | Tier 4: intronic/intergenic |
| rs572357810 | 3 | 61311665 | T>A | 0 | intron_variant | FHIT - PTPRG | 5e-11 | Tier 4: intronic/intergenic |
| rs185528279 | 6 | 31119172 | A>G | intron_variant | CDSN, PSORS1C1 | 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
47 approved, 5 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.
| Drug | Development status |
|---|---|
| Acemetacin | Approved (phase 4) |
| Alclofenac | Approved (phase 4) |
| Auranofin | Approved (phase 4) |
| Aurothioglucose | Approved (phase 4) |
| Benoxaprofen | Approved (phase 4) |
| Benzydamine | Approved (phase 4) |
| Bufexamac | Approved (phase 4) |
| Captopril | Approved (phase 4) |
| Celecoxib | Approved (phase 4) |
| Dexibuprofen | Approved (phase 4) |
| Dexketoprofen | Approved (phase 4) |
| Diacerein | Approved (phase 4) |
| Diclofenac | Approved (phase 4) |
| Etodolac | Approved (phase 4) |
| Etoricoxib | Approved (phase 4) |
| Fenoprofen | Approved (phase 4) |
| Feprazone | Approved (phase 4) |
| Flurbiprofen | Approved (phase 4) |
| Glucosamine | Approved (phase 4) |
| Ibuprofen | Approved (phase 4) |
| Indomethacin | Approved (phase 4) |
| Indoprofen | Approved (phase 4) |
| Ketoprofen | Approved (phase 4) |
| Ketorolac | Approved (phase 4) |
| Lornoxicam | Approved (phase 4) |
| Loxoprofen | Approved (phase 4) |
| Lumiracoxib | Approved (phase 4) |
| Meclofenamic Acid | Approved (phase 4) |
| Mefenamic Acid | Approved (phase 4) |
| Meloxicam | Approved (phase 4) |
| Nabumetone | Approved (phase 4) |
| Naproxen | Approved (phase 4) |
| Nimesulide | Approved (phase 4) |
| Orgotein | Approved (phase 4) |
| Oxaprozin | Approved (phase 4) |
| Parecoxib | Approved (phase 4) |
| Penicillamine | Approved (phase 4) |
| Phenylbutazone | Approved (phase 4) |
| Piroxicam | Approved (phase 4) |
| Pirprofen | Approved (phase 4) |
| Rofecoxib | Approved (phase 4) |
| Sulindac | Approved (phase 4) |
| Suprofen | Approved (phase 4) |
| Tiaprofenic Acid | Approved (phase 4) |
| Tolmetin | Approved (phase 4) |
| Valdecoxib | Approved (phase 4) |
| Zomepirac | Approved (phase 4) |
| Bucillamine | Phase 3 (in late-stage trials) |
| Chondroitin Sulfate Sodium | Phase 3 (in late-stage trials) |
| Naproxcinod | Phase 3 (in late-stage trials) |
| Pelubiprofen | Phase 3 (in late-stage trials) |
| Polmacoxib | Phase 3 (in late-stage trials) |
Clinical trials & evidence
Clinical trials
Clinical trials: 172.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 143 |
| PHASE2 | 9 |
| PHASE4 | 6 |
| PHASE3 | 4 |
| PHASE1/PHASE2 | 4 |
| PHASE1 | 4 |
| EARLY_PHASE1 | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05543642 | PHASE4 | ACTIVE_NOT_RECRUITING | The COVID-19 VaccinE Response and Co-Administration in Rheumatology Patients (COVER-CoAd) |
| NCT00377364 | PHASE4 | COMPLETED | Acetaminophen (Tylenol) for Mood and Memory Changes Associated With Corticosteroid Therapy |
| NCT01022905 | PHASE4 | COMPLETED | Vaccine Responses to Influenza A H1N1/09 Immunization in High-risk Patients |
| NCT03492658 | PHASE4 | COMPLETED | Abatacept to Silence Anti-citrullinated Protein Antibody-expressing B Cells in Rheumatoid Arthritis (ASCARA) |
| NCT03558971 | PHASE4 | COMPLETED | Patient Self-administration of Cortisol for Cortisol-responding Disorders in Men and Women Over the Age of 17 |
| NCT04754698 | PHASE4 | COMPLETED | COVID-19 CoronaVac in Patients With Autoimmune Rheumatic Diseases and HIV/AIDS |
| NCT02111564 | PHASE3 | COMPLETED | A Study of Rivaroxaban (JNJ-39039039) on the Venous Thromboembolic Risk in Post-Hospital Discharge Patients |
| NCT02436096 | PHASE3 | COMPLETED | A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia |
| NCT02829814 | PHASE3 | TERMINATED | Repeat of: A Study to Evaluate Efficacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With Fibromyalgia |
| NCT04806113 | PHASE3 | COMPLETED | COVID-19 Vaccine in Immunosuppressed Adults With Autoimmune Diseases |
| NCT07078357 | PHASE1/PHASE2 | NOT_YET_RECRUITING | Clinical Trial Phase I/IIa to Evaluate the Safety and Immunogenicity of StreptInCor |
| NCT07138898 | PHASE2 | NOT_YET_RECRUITING | Immunosuppressant Management in Rheumatology Patients Undergoing Elective Total Shoulder Arthroplasty |
| NCT07148414 | PHASE2 | RECRUITING | A Study of SPY072 in Rheumatic Disease |
| NCT00000407 | PHASE2 | COMPLETED | Improving Vocational Outcomes in Arthritis |
| NCT00244153 | PHASE1/PHASE2 | UNKNOWN | Intraarticular Opioids Vs Glucocorticosteroids in Gonarthritis |
| NCT00372177 | PHASE1/PHASE2 | COMPLETED | The Use of Anti-CD4 Monoclonal Antibody (mAb)-Fragment for the Imaging of Chronic Inflammation in Patients With Active Rheumatoid Arthritis |
| NCT01006681 | PHASE2 | UNKNOWN | Vaccination Against Influenza H1N1 in Rheumatic Diseases |
| NCT01227694 | PHASE1/PHASE2 | COMPLETED | Adult Stem Cell Therapy for Repairing Articular Cartilage in Gonarthrosis |
| NCT01685372 | PHASE2 | COMPLETED | Immunogenicity of Fluzone High Dose in Immunocompromised Children and Young Adults |
| NCT02944448 | PHASE2 | COMPLETED | A Study Evaluating Pain Relief and Safety of Orally Administered CR845 in Patients With Osteoarthritis of Hip or Knee |
| NCT03277703 | PHASE2 | COMPLETED | Flu Vaccine Response in Patients on Biologic Therapies |
| NCT05516758 | PHASE2 | TERMINATED | A Study of Peresolimab (LY3462817) in Participants With Moderately-to-Severely Active Rheumatoid Arthritis |
| NCT05618782 | PHASE2 | COMPLETED | Clinical Trial to Evaluate the Efficacy and Safety of LEVI-04 in Patients With Osteoarthritis of the Knee |
| NCT00946790 | PHASE1 | COMPLETED | To Demonstrate the Relative Bioavailability of Hydroxychloroquine Sulfate, 200 mg Tablets |
| NCT02291471 | PHASE1 | COMPLETED | Tolerance and Pharmacokinetics of T0001 in Healthy Adult Chinese Volunteers |
| NCT03337165 | PHASE1 | COMPLETED | Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis |
| NCT04205851 | PHASE1 | COMPLETED | Phase 1 Study With KIN-1901 in Healthy Subjects and Subjects With Ankylosing Spondylitis |
| NCT07490041 | EARLY_PHASE1 | RECRUITING | Exploratory Clinical Study on the Safety and Efficacy of Anti- CD19/BCMA CAR-NK Cell Injection for the Treatment of Refractory Pediatric Rheumatic Diseases |
| NCT02484053 | EARLY_PHASE1 | COMPLETED | Rapid Infusion Rituximab, Hematologic, Oncologic, and Rheumatologic Disorders |
| NCT00024479 | Not specified | RECRUITING | Studies of the Natural History of Rheumatic Diseases |
| NCT02504879 | Not specified | RECRUITING | Natural History, Pathogenesis and Outcome of Melorheostosis A Rare Osteosclerotic Disease |
| NCT03813862 | Not specified | RECRUITING | Observational Pharmaco-Epidemiology Research & Analysis |
| NCT04037735 | Not specified | RECRUITING | RSA-RCT: Attune S+ TKA Versus Sigma TKA |
| NCT04244968 | Not specified | ACTIVE_NOT_RECRUITING | Satisfaction, QoL,Health Status & Clinic Outcomes for Patients Attending MSK Triage Clinics in Rheumatology |
| NCT04402086 | Not specified | RECRUITING | Rheumatology Patient Registry and Biorepository |
| NCT04817072 | Not specified | RECRUITING | Evaluation of Mood Disorders Under Biologics in Chronic Inflammatory Rheumatic Disease |
| NCT04890483 | Not specified | RECRUITING | tDCS in Post-Acute COVID-19 Patients With SARDs |
| NCT05007340 | Not specified | RECRUITING | ILD-SARDs Registry and Biorepository |
| NCT05443321 | Not specified | ENROLLING_BY_INVITATION | Advancing Health Information Exchange (HIE) During Inter-hospital Transfer (IHT) to Improve Patient Outcomes |
| NCT05786235 | Not specified | RECRUITING | Patients Pregnant Women With or Without Primary Antiphospholipid Antibody Syndrome |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ABATACEPT | 4 | 2 |
| AZATHIOPRINE | 4 | 1 |
| BELIMUMAB | 4 | 1 |
| BIMEKIZUMAB | 4 | 1 |
| CANAKINUMAB | 4 | 1 |
| GOLIMUMAB | 4 | 1 |
| GUSELKUMAB | 4 | 1 |
| HYDROCORTISONE | 4 | 1 |
| IXEKIZUMAB | 4 | 1 |
| LEFLUNOMIDE | 4 | 1 |
| MYCOPHENOLIC ACID | 4 | 1 |
| RISANKIZUMAB | 4 | 1 |
| RIVAROXABAN | 4 | 1 |
| SULFASALAZINE | 4 | 1 |
| TOFACITINIB | 4 | 1 |
| UPADACITINIB | 4 | 1 |
| CERTOLIZUMAB | 3 | 1 |
| PERESOLIMAB | 2 | 1 |
| CHEMBL4783966 | 0 | 1 |