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Traits
Traits linked to COPA
coat protein complex I subunit alpha
The Human Phenotype Ontology links 15 traits to COPA, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Abnormality in area between air sacs in lung | Always |
| Hemosiderin-laden macrophages in bronchoalveolar fluid | Always |
| Stiff lung or chest wall causing decreased lung volume | Always |
| Breathing difficulty | Sometimes (5–29%) |
| Cough | Sometimes (5–29%) |
| Increased respiratory rate or depth of breathing | Sometimes (5–29%) |
| Decreased DLCO | Not recorded |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Crescentic glomerulonephritis | Often (30–79%) |
| Mesangial hypercellularity | Sometimes (5–29%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated circulating C-reactive protein concentration | Not recorded |
| High ESR | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Pulmonary hemorrhage | Often (30–79%) |
Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Antinuclear antibody positivity | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Arthritis | Very often (80–99%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Joint pain | Sometimes (5–29%) |
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.
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to COPA and how often each is seen. Find out more at hpo.jax.org.
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