Musculoskeletal system disorder
diseaseOn this page
Also known as disease of musculoskeletal systemdisease or disorder of musculoskeletal systemdisorder of musculoskeletal systemmusculoskeletal diseasemusculoskeletal system diseasemusculoskeletal system disease or disorder
Summary
Musculoskeletal system disorder (MONDO:0002081) is a disease (an umbrella term covering 22 Mondo subtypes) with 150 GWAS associations across 58 studies and 240 clinical trials. Top therapeutic interventions include ataluren, sodium chloride, and dorgenmeltucel-l. A subtype of disease by body system or component — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 22 Mondo subtypes
- GWAS associations: 150
- Clinical trials: 240
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | musculoskeletal system disorder |
| Mondo ID | MONDO:0002081 |
| EFO | EFO:0009676 |
| MeSH | D009140 |
| DOID | DOID:17 |
| NCIT | C107377 |
| SNOMED CT | 928000 |
| UMLS | C0026857 |
| MedGen | 6471 |
| Anatomy (UBERON) | UBERON:0002204 |
| Is cancer (heuristic) | no |
Also known as: disease of musculoskeletal system · disease or disorder of musculoskeletal system · disorder of musculoskeletal system · musculoskeletal disease · musculoskeletal system disease · musculoskeletal system disease or disorder · musculoskeletal system disorder
Data availability: 150 GWAS associations (58 studies).
Disease family
An umbrella term covering 22 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder
Related subtypes (18): disorder of orbital region, integumentary system disorder, urinary system disorder, syndromic disease, auditory system disorder, breast disorder, connective tissue disorder, digestive system disorder, cardiovascular disorder, reproductive system disorder, immune system disorder, nervous system disorder, respiratory system disorder, endocrine system disorder, hematologic disorder, mouth disorder, disorder of visual system, otorhinolaryngologic disease
Subtypes (22): autoimmune disorder of musculoskeletal system, musculoskeletal system benign neoplasm, musculoskeletal system cancer, Klippel-Feil syndrome, enthesopathy, muscle tissue disorder, fasciitis, skeletal system disorder, synovial chondromatosis, auriculoosteodysplasia, hypertrophic osteoarthropathy, primary, autosomal dominant, Upington disease, Ramon syndrome, osteoporosis-oculocutaneous hypopigmentation syndrome, short stature, Brussels type, wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia, CINCA syndrome, chondrodysplasia with joint dislocations, gPAPP type, ligament disorder, synovium disorder, disease of the tendon, Short stature, Dauber-Argente type
Genetics & variants
GWAS landscape
150 GWAS associations across 58 studies. Top hits map to 16 distinct genes (as reported by GWAS).
Top associations by p-value
| rsID | p-value | Gene | Risk allele | Odds ratio |
|---|---|---|---|---|
| chr19:51720708 | 1e-22 | C | 0.15 | |
| rs9272539 | 5e-21 | HLA-DQA1 | ? | |
| rs2476601 | 3e-15 | AP4B1-AS1, PTPN22 | ? | |
| rs182941472 | 2e-14 | CRAT37 - THRAP3P2 | T | 2.56 |
| rs74452477 | 6e-14 | DST | G | 2.24 |
| rs549166690 | 1e-13 | LINC00470 | C | 2.83 |
| rs373112267 | 1e-12 | LINC02463 - MED13L | G | 3.54 |
| rs577287444 | 1e-12 | LRRC74A | G | 2.83 |
| chr19:51721122 | 1e-12 | C | 0.07 | |
| rs111811085 | 2e-12 | BUB3P1 - EIF3IP1 | G | 3.14 |
| rs569952561 | 6e-12 | EPHB1 - SDHBP1 | C | 3.42 |
| rs146531709 | 7e-12 | OSBP2 | C | 2.53 |
| rs539410356 | 1e-11 | LNC-LBCS | G | 2.35 |
| rs187766040 | 1e-11 | GALNTL6 | C | 3.07 |
| rs145770638 | 1e-11 | LINC01007 | G | 2 |
| rs189572423 | 2e-11 | PPM1H | T | 4.21 |
| rs371737875 | 2e-11 | RNU6-812P - REG3G | T | 3.1 |
| rs150749087 | 3e-11 | CNTNAP4 | C | 3.73 |
| rs185474465 | 4e-11 | MRPL50P1 - RPL21P36 | G | 3.2 |
| rs2853975 | 2e-10 | MICA | ? | |
| rs6916742 | 4e-10 | HLA-DRB9 - HLA-DRB5 | ? | |
| chr4:98719519 | 6e-09 | T | 2.27 | |
| chr2:159271033 | 8e-09 | ? | 4.42 | |
| chr2:54404714 | 1e-08 | G | 2.39 | |
| chr7:132183790 | 2e-08 | T | 1.85 | |
| rs7511013 | 2e-08 | MIRLET7BHG, PRR34 | ? | |
| chr13:37841344 | 3e-08 | ? | 5.91 | |
| rs3134938 | 3e-08 | NOTCH4 - TSBP1-AS1 | ? | |
| rs8043085 | 3e-08 | RASGRP1 | ? | |
| chr11:46232086 | 4e-08 | T | 2.76 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90038601 | Donertas HM | 2021 | 106,605 | 377,993 | Common genetic associations between age-related diseases. |
| GCST90474097 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 30,207 | 428,233 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90478921 | Verma A | 2024 | 13,405 | 418,278 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90474103 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 11,380 | 447,060 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90103965 | Tangden T | 2022 | 11,243 | 326,241 | A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections. |
| GCST90479006 | Verma A | 2024 | 9,630 | 427,865 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90479139 | Verma A | 2024 | 7,586 | 427,112 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90436787 | Zhou W | 2018 | 5,493 | 403,468 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478920 | Verma A | 2024 | 4,338 | 110,524 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480999 | Verma A | 2024 | 4,338 | 110,524 | 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 | 1 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 2 |
| Tier 4: intronic/intergenic | 47 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 10 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 15 |
| unknown | 25 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 24 |
| intron_variant | 14 |
| intergenic_variant | 8 |
| regulatory_region_variant | 2 |
| missense_variant | 1 |
| non_coding_transcript_exon_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| chr19:51720708 | 1e-22 | Tier 4: intronic/intergenic | ||||||
| rs9272539 | 6 | 32639042 | G>A,C | 0.05 | intron_variant | HLA-DQA1 | 5e-21 | Tier 4: intronic/intergenic |
| rs2476601 | 1 | 113834946 | A>G,T | 0.05 | missense_variant | AP4B1-AS1, PTPN22 | 3e-15 | Tier 1: coding |
| rs182941472 | 15 | 91729820 | T>C,G | 0 | intergenic_variant | CRAT37 - THRAP3P2 | 2e-14 | Tier 4: intronic/intergenic |
| rs74452477 | 6 | 56628734 | G>A | 0.002 | intron_variant | DST | 6e-14 | Tier 4: intronic/intergenic |
| rs549166690 | 18 | 1316674 | C>A,G | 0 | intron_variant | LINC00470 | 1e-13 | Tier 4: intronic/intergenic |
| rs373112267 | 12 | 115934875 | G>A,T | 0 | intergenic_variant | LINC02463 - MED13L | 1e-12 | Tier 4: intronic/intergenic |
| rs577287444 | 14 | 76843728 | G>C | 0 | intron_variant | LRRC74A | 1e-12 | Tier 4: intronic/intergenic |
| chr19:51721122 | 1e-12 | Tier 4: intronic/intergenic | ||||||
| rs111811085 | 7 | 109202424 | G>A,C,T | 0 | intergenic_variant | BUB3P1 - EIF3IP1 | 2e-12 | Tier 4: intronic/intergenic |
| rs569952561 | 3 | 135270586 | C>A,G,T | 0 | intron_variant | EPHB1 - SDHBP1 | 6e-12 | Tier 4: intronic/intergenic |
| rs146531709 | 22 | 30826464 | C>T | 0.001 | intron_variant | OSBP2 | 7e-12 | Tier 4: intronic/intergenic |
| rs539410356 | 6 | 19799593 | G>T | 0 | intron_variant | LNC-LBCS | 1e-11 | Tier 4: intronic/intergenic |
| rs187766040 | 4 | 172370079 | C>A,T | 0.001 | intron_variant | GALNTL6 | 1e-11 | Tier 4: intronic/intergenic |
| rs145770638 | 7 | 101568788 | G>A,T | 0.001 | intron_variant | LINC01007 | 1e-11 | Tier 4: intronic/intergenic |
| rs189572423 | 12 | 62759183 | T>G | 0 | intron_variant | PPM1H | 2e-11 | Tier 4: intronic/intergenic |
| rs371737875 | 2 | 78999000 | T>C | 0 | intergenic_variant | RNU6-812P - REG3G | 2e-11 | Tier 4: intronic/intergenic |
| rs150749087 | 16 | 76350579 | C>A,T | 0.001 | intron_variant | CNTNAP4 | 3e-11 | Tier 4: intronic/intergenic |
| rs185474465 | 2 | 35727540 | G>A | 0 | intergenic_variant | MRPL50P1 - RPL21P36 | 4e-11 | Tier 4: intronic/intergenic |
| rs2853975 | 6 | 31414940 | A>G,T | 0.05 | intron_variant | MICA | 2e-10 | Tier 4: intronic/intergenic |
| rs6916742 | 6 | 32485414 | T>A,C | 0.05 | intron_variant | HLA-DRB9 - HLA-DRB5 | 4e-10 | Tier 4: intronic/intergenic |
| chr4:98719519 | 6e-09 | Tier 4: intronic/intergenic | ||||||
| chr2:159271033 | 8e-09 | Tier 4: intronic/intergenic | ||||||
| chr2:54404714 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr7:132183790 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| rs7511013 | 22 | 46051252 | C>G | 0.05 | non_coding_transcript_exon_variant | MIRLET7BHG, PRR34 | 2e-08 | Tier 4: intronic/intergenic |
| chr13:37841344 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| rs3134938 | 6 | 32238711 | C>T | 0.05 | intergenic_variant | NOTCH4 - TSBP1-AS1 | 3e-08 | Tier 4: intronic/intergenic |
| rs8043085 | 15 | 38535939 | G>T | 0.05 | intron_variant | RASGRP1 | 3e-08 | Tier 4: intronic/intergenic |
| chr11:46232086 | 4e-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
No approved or late-stage (phase ≥3) drug is indicated for this disease; the following are in earlier-phase trials only.
Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bupivacaine, Clonidine, Epinephrine, Ketorolac.
Clinical trials & evidence
Clinical trials
Clinical trials: 240.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 202 |
| PHASE3 | 16 |
| PHASE2 | 9 |
| PHASE1 | 6 |
| PHASE4 | 4 |
| PHASE2/PHASE3 | 3 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT05440240 | PHASE4 | RECRUITING | Percutaneous Needle Fasciotomy +/- Corticosteroid Injection for Dupuytren’s Contracture |
| NCT02367079 | PHASE4 | TERMINATED | Diathermy Compared With Sham Diathermy in Doms Management |
| NCT02514538 | PHASE4 | UNKNOWN | EVALUATION OF THE RELATIONSHIP BETWEEN EFFERVESCENT PARACETAMOL AND BLOOD PRESSURE. CLINICAL TRIAL. |
| NCT06508242 | PHASE4 | UNKNOWN | Effects Of Vitamin D On Bone, Muscle, And Adipose Tissue In Obese Subjects |
| NCT06216028 | PHASE3 | NOT_YET_RECRUITING | Bone Marrow Aspirate Concentrate (BMAC) Treatment for Knee Osteoarthritis |
| NCT07151417 | PHASE2/PHASE3 | NOT_YET_RECRUITING | Use of Corticosteroid in Intraopertive Injections in Total Knee Replacement Surgery. |
| NCT07587242 | PHASE3 | NOT_YET_RECRUITING | A Phase 3 Study to Evaluate the Safety and Efficacy of AOC 1044 (Also Referred to as Delpacibart Zotadirsen) in Participants With DMD With Gene Mutations Amenable to Exon 44 Skipping |
| NCT00110318 | PHASE3 | COMPLETED | Trial of Physiotherapy and Corticosteroid Injections in Lateral Epicondylalgia |
| NCT00131300 | PHASE3 | COMPLETED | A Study of the Safety and Efficacy of Synvisc in Patients With Symptomatic Shoulder Osteoarthritis |
| NCT00131326 | PHASE3 | COMPLETED | A Study of the Safety and Efficacy of Synvisc and Depo-Medrol in Patients With Osteoarthritis of the Hip |
| NCT00131352 | PHASE3 | COMPLETED | A Study of the Safety and Efficacy of Hylan G-F 20 (Synvisc) in Patients With Symptomatic Osteoarthritis of the Knee |
| NCT00942227 | PHASE3 | COMPLETED | The Value of Traction in Treatment of Lumbar Radiculopathy |
| NCT00979108 | PHASE3 | COMPLETED | The Value of Traction in the Treatment of Cervical Radiculopathy |
| NCT01544439 | PHASE3 | UNKNOWN | Occlusal Splint and Counseling to Temporomandibular Disorder |
| NCT01809171 | PHASE2/PHASE3 | TERMINATED | Placebo-controlled Trial With Vitamin D to Prevent Worsening/Relieve Aromatase Inhibitor-induced Musculoskeletal Symptoms in Breast Cancer Patients |
| NCT01826487 | PHASE3 | COMPLETED | Phase 3 Study of Ataluren in Participants With Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD) |
| NCT02090959 | PHASE3 | TERMINATED | An Extension Study of Ataluren (PTC124) in Participants With Nonsense Mutation Dystrophinopathy |
| NCT02436096 | PHASE3 | COMPLETED | A Study to Evaluate eFFIcacy and Safety of Sublingual TNX-102 SL Tablet Taken at Bedtime in Patients With fibRoMyalgia |
| NCT02809781 | PHASE2/PHASE3 | UNKNOWN | A Pilot Study of MSCs Iufusion and Etanercept to Treat Ankylosing Spondylitis |
| 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 |
| NCT03179631 | PHASE3 | COMPLETED | Long-Term Outcomes of Ataluren in Duchenne Muscular Dystrophy |
| NCT03309501 | PHASE3 | UNKNOWN | Tong-Luo-Qu-Tong Plaster for KOA: a Randomised, Double-blind, Parallel Positive Control, Multi-center Clinical Trial |
| NCT03571737 | PHASE3 | COMPLETED | Efficacy of Lidocaine Patch in Acute Musculoskeletal Pain in the Emergency Department |
| NCT06451588 | PHASE2 | RECRUITING | Fecal Microbiota Transplantation in Axial Spondyloarthritis |
| NCT00000407 | PHASE2 | COMPLETED | Improving Vocational Outcomes in Arthritis |
| NCT00298935 | PHASE2 | COMPLETED | Study of the Effectiveness of Osteopathic Manipulative Treatment in Pregnant Women |
| NCT02594878 | PHASE2 | UNKNOWN | Chronic Non-bacterial Osteomyelitis Treated With Pamidronate |
| NCT02944448 | PHASE2 | COMPLETED | A Study Evaluating Pain Relief and Safety of Orally Administered CR845 in Patients With Osteoarthritis of Hip or Knee |
| NCT05355597 | PHASE2 | TERMINATED | The Efficacy of Exparel Versus a Multidrug Cocktail in Soft Tissue Tumors |
| NCT05479981 | PHASE2 | COMPLETED | Extension of AOC 1001-CS1 (MARINA) Study in Adult Myotonic Dystrophy Type 1 (DM1) Patients |
| 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 |
| NCT01007669 | PHASE1 | COMPLETED | Effects of Specified Work Site Physical Activity Intervention Among Employees With Physical Heavy Work |
| NCT01015716 | PHASE1 | COMPLETED | Physical Exercise, Dietary Counseling and Cognitive Behavioral Training as a Combined Intervention to Reduce Weight and Increase Workability in Health Care Workers |
| NCT02257489 | PHASE1 | COMPLETED | Phase 1 Study of ACE-083 in Healthy Subjects |
| NCT03337165 | PHASE1 | COMPLETED | Autologous Tolerogenic Dendritic Cells for Treatment of Patients With Rheumatoid Arthritis |
| NCT03440034 | PHASE1 | COMPLETED | Study of Pioglitazone in Sporadic Inclusion Body Myositis |
| NCT05730842 | PHASE1 | COMPLETED | Absorption, Metabolism, Excretion and Absolute Bioavailability of EDG-5506 in Healthy Volunteers |
| NCT04037735 | Not specified | RECRUITING | RSA-RCT: Attune S+ TKA Versus Sigma TKA |
| NCT04536103 | Not specified | RECRUITING | Multi-Vendor Multi-Site Novel Accelerated MRI Relaxometry |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ATALUREN | 4 | 3 |
| SODIUM CHLORIDE | 4 | 1 |
| DORGENMELTUCEL-L | 3 | 1 |
| HYLAN G-F 20 | 3 | 1 |
| DELPACIBART ZOTADIRSEN | 2 | 1 |
| EFMITERMANT ALFA | 2 | 1 |
| ISOXAFLUTOLE | 2 | 1 |
| PERESOLIMAB | 2 | 1 |
| SEVASEMTEN | 2 | 1 |
Related Atlas pages
- Drugs: Ataluren, Sodium Chloride, Dorgenmeltucel-L, HYLAN G-F 20