Secondary hypertrophic osteoarthropathy
disease diseaseOn this page
Also known as hypertrophic pulmonary osteoarthropathyhypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]
Summary
Secondary hypertrophic osteoarthropathy (MONDO:0006965) is a disease with 6 GWAS associations across 5 studies. A subtype of arthropathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- GWAS associations: 6
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | secondary hypertrophic osteoarthropathy |
| Mondo ID | MONDO:0006965 |
| EFO | EFO:1001174 |
| MeSH | D010005 |
| DOID | DOID:10393 |
| ICD-11 | 1325516156 |
| SNOMED CT | 203357004 |
| UMLS | C0029412 |
| MedGen | 18211 |
| Is cancer (heuristic) | no |
Also known as: hypertrophic pulmonary osteoarthropathy · hypertrophic pulmonary osteoarthropathy (disorder) [ambiguous]
Data availability: 6 GWAS associations (5 studies).
Disease family
This is a subtype of arthropathy. 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 › secondary hypertrophic osteoarthropathy
Related subtypes (23): 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, shoulder impingement syndrome, crystal arthropathy, vertebral joint disorder
Genetics & variants
GWAS landscape
6 GWAS associations across 5 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 |
|---|---|---|---|---|
| rs75570604 | 6e-18 | FANCA | G | 0.11 |
| rs56158232 | 1e-14 | TERT | G | 0.07 |
| chr11:89050239 | 9e-13 | T | 0.06 | |
| rs12203592 | 1e-12 | IRF4 | C | 0.08 |
Top studies (by case count)
| Study | Lead author | Year | Cases | Controls | Title |
|---|---|---|---|---|---|
| GCST90476197 | Verma A | 2024 | 41,322 | 357,754 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478806 | Verma A | 2024 | 12,128 | 97,047 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90480467 | Verma A | 2024 | 12,128 | 97,047 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90478805 | Verma A | 2024 | 4,102 | 49,987 | Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. |
| GCST90482349 | Verma A | 2024 | 364 | 5,943 | 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 | 0 |
| Tier 2: splice/UTR | 0 |
| Tier 3: regulatory | 0 |
| Tier 4: intronic/intergenic | 4 |
MAF distribution
| Bucket | Variants |
|---|---|
| common (>=0.05) | 4 |
| low_freq (0.01-0.05) | 0 |
| rare (<0.01) | 0 |
| unknown | 0 |
Functional consequences
| Consequence | Count |
|---|---|
| intron_variant | 3 |
| unknown | 1 |
Top variants
| rsID | Chr | Pos | Alleles | MAF | Consequence | Gene | p-value | Tier |
|---|---|---|---|---|---|---|---|---|
| rs75570604 | 16 | 89780269 | G>C | 0.079 | intron_variant | FANCA | 6e-18 | Tier 4: intronic/intergenic |
| rs56158232 | 5 | 1291620 | G>A,C,T | 0.221 | intron_variant | TERT | 1e-14 | Tier 4: intronic/intergenic |
| chr11:89050239 | 0.305 | 9e-13 | Tier 4: intronic/intergenic | |||||
| rs12203592 | 6 | 396321 | C>G,T | 0.16 | intron_variant | IRF4 | 1e-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
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.