Arthropathy

Summary

Arthropathy (MONDO:0006816) is a disease (an umbrella term covering 24 Mondo subtypes) with 117 GWAS associations across 113 studies and 31 clinical trials. Top therapeutic interventions include bupivacaine, levobupivacaine hydrochloride, and 2-octyl cyanoacrylate. A subtype of skeletal system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Umbrella term: 24 Mondo subtypes
• GWAS associations: 117
• Clinical trials: 31

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	arthropathy
Mondo ID	MONDO:0006816
EFO	EFO:1000999
MeSH	D007592
DOID	DOID:381
NCIT	C35760
SNOMED CT	399269003
UMLS	C0022408
MedGen	7190
MedDRA	10003285
Anatomy (UBERON)	UBERON:0000982
Is cancer (heuristic)	no

Also known as: ankylosis of ankle and foot joint · ankylosis of forearm joint · ankylosis of hand joint · ankylosis of joint of multiple sites · ankylosis of joint of pelvic region and thigh · ankylosis of joint of shoulder region · ankylosis of lower leg joint · ankylosis of multiple joints · ankylosis of upper arm joint · arthropathy · disease of skeletal joint · disease or disorder of skeletal joint · disorder of skeletal joint · disorder, Joint · infectious arthropathy · Joint ankylosis of the ankle and foot · Joint ankylosis of the forearm · Joint ankylosis of the hand · Joint ankylosis of the lower leg · Joint ankylosis of the pelvic region and thigh (+5 more)

Data availability: 117 GWAS associations (113 studies).

Disease family

This is a subtype of skeletal system 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 › musculoskeletal system disorder › skeletal system disorder › arthropathy

Related subtypes (47): symphalangism, cartilage cancer, vertebral column disorder, patellar tendinitis, necrosis of ear ossicle, laryngeal cartilage cancer, ochronosis disorder, chondroma, periodontal disorder, posterior cranial fossa meningioma, anterior cranial fossa meningioma, middle cranial fossa meningioma, bone marrow disorder, cranial nodular fasciitis, flatfoot, bone disorder, skeletal tuberculosis, tooth disorder, primary basilar invagination, Brachymorphism-onychodysplasia-dysphalangism syndrome, cherubism, fibrodysplasia ossificans progressiva, Marfan syndrome, Buschke-Ollendorff syndrome, scalp defects-postaxial polydactyly syndrome, cartilage-hair hypoplasia, Teebi-Shaltout syndrome, short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, ossification of the posterior longitudinal ligament of the spine, temtamy preaxial brachydactyly syndrome, metaphyseal undermodeling, spondylar dysplasia, and overgrowth, Al-Gazali syndrome, brachydactyly-syndactyly syndrome, endocrine-cerebro-osteodysplasia syndrome, metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, multiple congenital anomalies-hypotonia-seizures syndrome 3, Rienhoff syndrome, Coffin-Siris syndrome, microcephaly-brachydactyly-kyphoscoliosis syndrome, cartilage development disorder, syndactyly, polydactyly, brachydactyly, sternal neoplasm, short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, skeletal ligament disorder, brachydactyly-syndactyly-oligodactyly syndrome

Subtypes (24): transient arthropathy, synovial plica syndrome, hypermobility syndrome, Tietze syndrome, neurogenic arthropathy, Behcet syndrome arthropathy, ankylosis, bursitis, synovium neoplasm, hydrarthrosis, articular cartilage disorder, hemarthrosis, tenosynovitis, ganglion or cyst of synovium/tendon/bursa, spondyloarthropathy, temporomandibular joint disorder, arthritic joint disease, de Quervain disease, frozen shoulder, patellofemoral pain syndrome, secondary hypertrophic osteoarthropathy, shoulder impingement syndrome, crystal arthropathy, vertebral joint disorder

Genetics & variants

GWAS landscape

117 GWAS associations across 113 studies. Top hits map to 13 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs146683910	1e-77	HLA-B - RNU6-283P	C	0.79
chr6:31325268	3e-48		T	0.74
chr4:9944471	3e-22		A	0.05
chr2:70490521	3e-21		G	0.04
chr9:114131367	4e-18		A	0.04
chr19:41327879	9e-18		A	0.12
chr4:102267552	5e-17		T	0.07
chr6:25840718	2e-16		G	0.04
chr22:45971264	6e-14		A	0.07
rs558111321	1e-13	NCOA2	G	4.42
chr3:50034995	1e-13		CCCTCTCCTCT	0.03
chr4:88133515	2e-13		G	0.05
chr15:50457564	3e-13		GA	0.04
chr4:1762788	4e-13		A	0.05
rs45499402	4e-13	ABCG2	?	1.67
rs574455086	5e-13	MYH13, MYHAS	T	3.39
rs562934034	7e-13	KCNF1 - RPL6P4	T	3.09
chr19:10661436	7e-13		C	0.03
rs576989219	1e-12	ARHGAP22	C	3.29
rs78225832	1e-12	MTCO3P30 - HMGB3P23	C	3.18
rs183920372	1e-12	HLA-B	?
chr11:65799248	1e-12		G	0.03
chr20:35402580	1e-12		A	0.04
rs370475313	2e-12	DNAJB6P1 - LINC02725	C	3.02
rs577163016	2e-12	LINC02292 - SYNE3	C	4.19
rs539337875	2e-12	LINC00824	G	3.78
rs577262561	3e-12	CDRT7 - CDRT8	G	3.89
rs149951403	3e-12	MIR3681HG	A	2.81
rs549508457	4e-12	ANKRD62 - PMM2P2	T	2.75
chr11:13324379	4e-12		C	0.03

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90473998	UK Biobank Whole-Genome Sequencing Consortium	2025	153,461	304,979	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90129429	Zorina-Lichtenwalter K	2023	80,737	157,458	Genetic risk shared across 24 chronic pain conditions: identification and characterization with genomic structural equation modeling.
GCST90297594	Auwerx C	2024	62,175	231,839	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297648	Auwerx C	2024	62,175	231,839	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297698	Auwerx C	2024	62,175	231,839	Rare copy-number variants as modulators of common disease susceptibility.
GCST90297744	Auwerx C	2024	62,175	231,839	Rare copy-number variants as modulators of common disease susceptibility.
GCST90038654	Donertas HM	2021	60,819	423,779	Common genetic associations between age-related diseases.
GCST90080466	Backman JD	2021	46,051	302,113	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90084452	Backman JD	2021	46,051	302,113	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90436655	Zhou W	2018	38,715	365,819	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

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	50

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	2
rare (<0.01)	25
unknown	22

Functional consequences

Consequence	Count
unknown	22
intron_variant	18
intergenic_variant	10

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs146683910	6	31368220	C>T	0.035	intron_variant	HLA-B - RNU6-283P	1e-77	Tier 4: intronic/intergenic
chr6:31325268				0.042			3e-48	Tier 4: intronic/intergenic
chr4:9944471							3e-22	Tier 4: intronic/intergenic
chr2:70490521							3e-21	Tier 4: intronic/intergenic
chr9:114131367							4e-18	Tier 4: intronic/intergenic
chr19:41327879							9e-18	Tier 4: intronic/intergenic
chr4:102267552							5e-17	Tier 4: intronic/intergenic
chr6:25840718							2e-16	Tier 4: intronic/intergenic
chr22:45971264							6e-14	Tier 4: intronic/intergenic
rs558111321	8	70378122	G>A	0	intron_variant	NCOA2	1e-13	Tier 4: intronic/intergenic
chr3:50034995							1e-13	Tier 4: intronic/intergenic
chr4:88133515							2e-13	Tier 4: intronic/intergenic
chr15:50457564							3e-13	Tier 4: intronic/intergenic
chr4:1762788							4e-13	Tier 4: intronic/intergenic
rs45499402	4	88122482	G>A,C,T	0.05	intron_variant	ABCG2	4e-13	Tier 4: intronic/intergenic
rs574455086	17	10310292	T>C,G	0.001	intron_variant	MYH13, MYHAS	5e-13	Tier 4: intronic/intergenic
rs562934034	2	10928747	T>A	0	intergenic_variant	KCNF1 - RPL6P4	7e-13	Tier 4: intronic/intergenic
chr19:10661436							7e-13	Tier 4: intronic/intergenic
rs576989219	10	48552426	C>T	0.001	intron_variant	ARHGAP22	1e-12	Tier 4: intronic/intergenic
rs78225832	9	31570558	C>A,T	0.001	intergenic_variant	MTCO3P30 - HMGB3P23	1e-12	Tier 4: intronic/intergenic
rs183920372	6	31359632	G>A		intron_variant	HLA-B	1e-12	Tier 4: intronic/intergenic
chr11:65799248							1e-12	Tier 4: intronic/intergenic
chr20:35402580							1e-12	Tier 4: intronic/intergenic
rs370475313	11	127978436	C>T	0.001	intron_variant	DNAJB6P1 - LINC02725	2e-12	Tier 4: intronic/intergenic
rs577163016	14	95393577	C>A,G	0	intron_variant	LINC02292 - SYNE3	2e-12	Tier 4: intronic/intergenic
rs539337875	8	128562440	G>C	0.001	intron_variant	LINC00824	2e-12	Tier 4: intronic/intergenic
rs577262561	17	15054997	G>A,C	0	intergenic_variant	CDRT7 - CDRT8	3e-12	Tier 4: intronic/intergenic
rs149951403	2	12345087	A>T	0	intron_variant	MIR3681HG	3e-12	Tier 4: intronic/intergenic
rs549508457	18	12136600	T>G	0	intergenic_variant	ANKRD62 - PMM2P2	4e-12	Tier 4: intronic/intergenic
chr11:13324379							4e-12	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, 6 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Fibrin	Phase 3 (in late-stage trials)
Oxycodone	Phase 3 (in late-stage trials)
Rofecoxib	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)
Tapentadol	Phase 3 (in late-stage trials)
Tranexamic Acid	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Botulinum Toxin Type A, Icatibant, Onabotulinumtoxina, Ropivacaine, Triamcinolone Hexacetonide, Vancomycin.

Clinical trials & evidence

Clinical trials

Clinical trials: 31.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	29
PHASE4	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05292339	PHASE4	RECRUITING	Ketorolac in Upper Extremity Tendinopathy and Arthropathy
NCT07478679	PHASE1	NOT_YET_RECRUITING	Radiation to Treat Joint Damage Caused by Cancer Immunotherapy
NCT05459948	Not specified	RECRUITING	The Medacta GMK SpheriKA Post-Marketing Surveillance Study
NCT05629130	Not specified	RECRUITING	Embolization in Hereditary Coagulopathies
NCT07040878	Not specified	RECRUITING	Antigravity Treadmill After Joint Arthroplasty
NCT07386561	Not specified	ACTIVE_NOT_RECRUITING	Virtual Reality Therapy and Non-Sleep Deep Rest Relaxation After Joint Arthroplasty
NCT07468461	Not specified	RECRUITING	CACP: Study on Camptodactyly - Arthropathy - Coxa Vara - Pericarditis (CACP) Syndrome
NCT07553273	Not specified	RECRUITING	Vibratory Anesthesia on Pain Following Corticosteroid Injections
NCT07563803	Not specified	NOT_YET_RECRUITING	The restor3d Outcomes Registry
NCT01300715	Not specified	UNKNOWN	An Alternative Technique for Lumbar Medial Branch Radiofrequency: Comparison With the Empirical Technique
NCT02229331	Not specified	COMPLETED	Biomechanical Determinants and Patterns Associated to the Pathophysiological Cascade of Ankle Arthropathy in Children With Haemophilia: Non-invasive In-vivo Measurement of Foot Joints in Children With Haemophilia During Gait.
NCT02762071	Not specified	COMPLETED	Liposomal Bupivacaine for Pain Control After Total Shoulder Arthroplasty
NCT03134209	Not specified	COMPLETED	A Study Investigating the Efficacy of Various Wound Closure Devices in Reducing Postoperative Wound Complications
NCT03258697	Not specified	COMPLETED	The Pharmacokinetics and Effectiveness of Local LevoBupivacaine Injection on Primary Total Joint Replacement Model.
NCT03485170	Not specified	COMPLETED	PET Imaging of Hemophilic Arthropathy
NCT03599336	Not specified	TERMINATED	RSA vs. Nonop for 3 & 4-Part Proximal Humerus Fractures
NCT04024176	Not specified	COMPLETED	Gait Analysis in Moderate Hemophiliac Patients (AQM-Hemophile)
NCT04206033	Not specified	COMPLETED	Hemophilia and Bone Metabolism: Study of Monocytic Populations and Inflammatory Proteins
NCT04618237	Not specified	UNKNOWN	Observational Study of Long-Term Joint Health Outcome in Hemophilia Patient
NCT04826380	Not specified	UNKNOWN	Thumb Basal Joint (CMC I) Arthritis - Preoperative Anxiety/Depression, Outcome Instruments, Carpal Cinematics and Cost-utility
NCT05187936	Not specified	UNKNOWN	Pre-clinical Models for Mesenchymal Stem Cell Therapy in Hemophilic Arthropathy
NCT05215600	Not specified	TERMINATED	Anaverse™ Glenoid System and Its Instrumentation
NCT05217264	Not specified	COMPLETED	Adaptation of High Activity Arthroplasty Score to Turkish
NCT05295004	Not specified	UNKNOWN	The Effect of Mindfulness Training Before Primary Total Joint Arthroplasty on Sleep Quality
NCT05319223	Not specified	UNKNOWN	Patient Blood Management in Orthopedic Surgical Patients in Turkey
NCT05591859	Not specified	WITHDRAWN	Restoration Anatomic Acetabular Shell Revision Study
NCT05602753	Not specified	UNKNOWN	Smoking Cessation Study
NCT05840705	Not specified	UNKNOWN	Approach Modification for Total Knee Arthroplasty in Morbidly Obese Patients
NCT06002139	Not specified	COMPLETED	Virtual Reality in Orthopedic Rehabilitation
NCT06053060	Not specified	COMPLETED	Evaluation of the Positioning of the Dynacup Cup One C Versus Standard Dynacup
NCT06440863	Not specified	COMPLETED	Postoperative BMI Changes and Functional Outcomes in Knee and Hip Arthroplasty

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BUPIVACAINE	4	1
LEVOBUPIVACAINE HYDROCHLORIDE	4	1
2-OCTYL CYANOACRYLATE	3	1