Trait
Degenerative joint disease
Clinical name: Osteoarthritis
Degeneration (wear and tear) of articular cartilage, i.e., of the joint surface. Joint degeneration may be accompanied by osteophytes (bone overgrowth), narrowing of the joint space, regions of sclerosis at the joint surface, or joint deformity.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Read the genes linked to Degenerative joint disease, and the rest of your genome, with one test.
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Get my Genome Test47 genes linked to Degenerative joint disease
Changes in these genes cause rare conditions in which Degenerative joint disease is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| AEBP1AE binding protein 1 | Always | In 1 condition |
| ANKHANKH inorganic pyrophosphate transport regulator | Always | In 2 conditions |
| COL9A1collagen type IX alpha 1 chain | Always | In 2 conditions |
| PFN1profilin 1 | Always | In 1 condition |
| SMAD2SMAD family member 2 | Always | In 1 condition |
| ACANaggrecan | Very often (80–99%) | In 2 conditions |
| AIPAHR interacting HSP90 co-chaperone | Very often (80–99%) | In 1 condition |
| CLCN7Cl-/H+ antiporter 7 | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 4 conditions |
| GPR101G protein-coupled receptor 101 | Very often (80–99%) | In 1 condition |
| HGDhomogentisate 1,2-dioxygenase | Very often (80–99%) | In 1 condition |
| UFSP2UFM1 specific peptidase 2 | Very often (80–99%) | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | Often (30–79%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Often (30–79%) | In 2 conditions |
| COMPcartilage oligomeric matrix protein | Often (30–79%) | In 3 conditions |
| EMILIN1elastin microfibril interfacer 1 | Often (30–79%) | In 1 condition |
| HPGD15-hydroxyprostaglandin dehydrogenase | Often (30–79%) | In 1 condition |
| NGFnerve growth factor | Often (30–79%) | In 1 condition |
| SMAD3SMAD family member 3 | Often (30–79%) | In 2 conditions |
| TNFRSF11BTNF receptor superfamily member 11b | Often (30–79%) | In 1 condition |
| COL1A1collagen type I alpha 1 chain | Sometimes (5–29%) | In 1 condition |
| COL5A1collagen type V alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| COL5A2collagen type V alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL9A2collagen type IX alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| COL9A3collagen type IX alpha 3 chain | Sometimes (5–29%) | In 2 conditions |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| GBA1glucosylceramidase beta 1 | Sometimes (5–29%) | In 1 condition |
| GHRgrowth hormone receptor | Sometimes (5–29%) | In 1 condition |
| GNASGNAS complex locus | Sometimes (5–29%) | In 1 condition |
| LMNAlamin A/C | Sometimes (5–29%) | In 1 condition |
| MEFVMEFV innate immunity regulator, pyrin | Sometimes (5–29%) | In 1 condition |
| SCARB2scavenger receptor class B member 2 | Sometimes (5–29%) | In 1 condition |
| SLC40A1solute carrier family 40 member 1 | Sometimes (5–29%) | In 1 condition |
| STT3ASTT3 oligosaccharyltransferase complex catalytic subunit A | Sometimes (5–29%) | In 1 condition |
| ZMPSTE24zinc metallopeptidase STE24 | Sometimes (5–29%) | In 1 condition |
| TGFB3transforming growth factor beta 3 | Rarely (1–4%) | In 1 condition |
| ASPNasporin | Not recorded | In 1 condition |
| ATP7BATPase copper transporting beta | Not recorded | In 1 condition |
| CANT1calcium activated nucleotidase 1 | Not recorded | In 1 condition |
| CCN6cellular communication network factor 6 | Not recorded | In 1 condition |
Show 7 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| F8coagulation factor VIII | Not recorded | In 1 condition |
| F9coagulation factor IX | Not recorded | In 1 condition |
| MATN3matrilin 3 | Not recorded | In 1 condition |
| MMP13matrix metallopeptidase 13 | Not recorded | In 1 condition |
| PHEXphosphate regulating endopeptidase X-linked | Not recorded | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Not recorded | In 1 condition |
| ZNF687zinc finger protein 687 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
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Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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