Trait
Enlarged joints
Increase in size of one or more joints.
Summary
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test10 genes linked to Enlarged joints
Changes in these genes cause rare conditions in which Enlarged joints 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 |
|---|---|---|
| GNPNAT1glucosamine-phosphate N-acetyltransferase 1 | Always | In 1 condition |
| KIF7kinesin family member 7 | Always | In 2 conditions |
| TRPV4transient receptor potential cation channel subfamily V member 4 | Always | In 2 conditions |
| CHST3carbohydrate sulfotransferase 3 | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 3 conditions |
| LIFRLIF receptor subunit alpha | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 2 conditions |
| MATN3matrilin 3 | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | 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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