Trait
Abnormal shape of joints
Clinical name: Abnormal joint morphology
An abnormal structure or form of the joints, i.e., one or more of the articulations where two bones join.
Summary
- Also called
- Abnormality of the joints, Anomaly of the joints, Joint disease
- Body system
- Abnormality of the musculoskeletal system
Reference genomeGRCh38hg38
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Get my Genome Test12 genes linked to Abnormal shape of joints
Changes in these genes cause rare conditions in which Abnormal shape of 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 |
|---|---|---|
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Always | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Very often (80–99%) | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Very often (80–99%) | In 1 condition |
| TCTN3tectonic family member 3 | Very often (80–99%) | In 1 condition |
| IDH1isocitrate dehydrogenase (NADP(+)) 1 | Often (30–79%) | In 1 condition |
| NLRP3NLR family pyrin domain containing 3 | Often (30–79%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 1 condition |
| EFL1elongation factor like GTPase 1 | Sometimes (5–29%) | In 1 condition |
| SBDSSBDS ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| EMG1EMG1 N1-specific pseudouridine methyltransferase | Not recorded | In 1 condition |
| GHRgrowth hormone receptor | Not recorded | In 1 condition |
| PTPN11protein tyrosine phosphatase non-receptor type 11 | 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.
Narrower traits
- Arthritis173 genes
- Joint dislocation76 genes
- Joint swelling53 genes
- Pterygium37 genes
- Fusion of joints25 genes
- Calcium deposits in joints22 genes
- Disease of the joints22 genes
- Bleeding within a joint18 genes
- Enlarged joints10 genes
- Joint subluxation10 genes
- Abnormal sacroiliac joint morphology5 genes
- Osteochondrosis5 genes
- Abnormality of lower limb joint2 genes
- Periarticular soft-tissue mass1 gene
- Progressive joint destruction1 gene
- Abnormal synovial bursa morphology
- Abnormal synovial membrane morphology
- Abnormality of upper limb joint
Broader traits
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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