Enthesopathy
diseaseOn this page
Also known as disease of enthesisdisease or disorder of enthesisdisorder of enthesisenthesis diseaseenthesis disease or disorder
Summary
Enthesopathy (MONDO:0002183) is a disease (an umbrella term covering 5 Mondo subtypes) with 10 GWAS associations across 32 studies and 2 clinical trials. A subtype of musculoskeletal system disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- GWAS associations: 10
- Clinical trials: 2
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | enthesopathy |
| Mondo ID | MONDO:0002183 |
| EFO | EFO:0009666 |
| MeSH | D000070676 |
| DOID | DOID:204 |
| SNOMED CT | 23680005 |
| UMLS | C0242490 |
| MedGen | 66909 |
| Anatomy (UBERON) | UBERON:0035845 |
| Is cancer (heuristic) | no |
Also known as: disease of enthesis · disease or disorder of enthesis · disorder of enthesis · enthesis disease · enthesis disease or disorder
Data availability: 10 GWAS associations (32 studies).
Disease family
This is a subtype of musculoskeletal 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 › enthesopathy
Related subtypes (21): autoimmune disorder of musculoskeletal system, musculoskeletal system benign neoplasm, musculoskeletal system cancer, Klippel-Feil syndrome, 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
Subtypes (5): pes anserinus tendinitis or bursitis, olecranon bursitis, tibial collateral ligament bursitis, fibular collateral ligament bursitis, enthesitis
Genetics & variants
GWAS landscape
10 GWAS associations across 32 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 |
|---|---|---|---|---|
| rs13107325 | 9e-12 | SLC39A8 | C | 0.08 |
| chrX:154015875 | 6e-09 | A | 1.64 | |
| chr17:44864423 | 1e-08 | A | 0.16 | |
| chr10:67737123 | 2e-08 | T | 1.97 | |
| chr2:182888169 | 3e-08 | T | 2.16 | |
| chr4:87950130 | 3e-08 | G | 0.05 | |
| chr4:1322953 | 4e-08 | TC | 1.58 | |
| chr7:65367523 | 4e-08 | A | 2.06 | |
| rs76919913 | 1e-07 | NCAM1 | ? | |
| rs147662406 | 1e-07 | SPAG17 | ? |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90478932 | Verma A | 2024 | 105,189 | 286,270 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90476239 | Verma A | 2024 | 44,032 | 362,792 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90474122 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 30,544 | 427,896 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90667909 | UK Biobank Whole-Genome Sequencing Consortium | 2025 | 30,544 | 427,896 | Whole-genome sequencing of 490,640 UK Biobank participants. |
| GCST90478931 | Verma A | 2024 | 30,430 | 73,906 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90481008 | Verma A | 2024 | 30,430 | 73,906 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90129438 | Zorina-Lichtenwalter K | 2023 | 28,754 | 175,077 | Genetic risk shared across 24 chronic pain conditions: identification and characterization with genomic structural equation modeling. |
| GCST90436677 | Zhou W | 2018 | 14,983 | 378,711 | Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies. |
| GCST90478929 | Verma A | 2024 | 14,781 | 37,096 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478935 | Verma A | 2024 | 13,532 | 94,397 | 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 | 0 |
| Tier 4: intronic/intergenic | 9 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 2 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 8 |
Functional consequences
| Consequence | Count |
|---|---|
| unknown | 7 |
| intron_variant | 2 |
| missense_variant | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs13107325 | 4 | 102267552 | C>A,T | 0.083 | missense_variant | SLC39A8 | 9e-12 | Tier 1: coding |
| chrX:154015875 | 6e-09 | Tier 4: intronic/intergenic | ||||||
| chr17:44864423 | 1e-08 | Tier 4: intronic/intergenic | ||||||
| chr10:67737123 | 2e-08 | Tier 4: intronic/intergenic | ||||||
| chr2:182888169 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr4:87950130 | 3e-08 | Tier 4: intronic/intergenic | ||||||
| chr4:1322953 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| chr7:65367523 | 4e-08 | Tier 4: intronic/intergenic | ||||||
| rs76919913 | 11 | 113144310 | T>G | 0.05 | intron_variant | NCAM1 | 1e-07 | Tier 4: intronic/intergenic |
| rs147662406 | 1 | 118184330 | G>T | intron_variant | SPAG17 | 1e-07 | 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: 2.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT02962271 | Not specified | UNKNOWN | Comparation of Ultrasonic Imaging of Enthesopathy in Patients With Psoriatic Arthritis and Psoriasis |
| NCT05942976 | Not specified | COMPLETED | Enthesis Differences in Rheumatoid Arthritis and Axial Spondyloarthropathy |
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.