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Traits
Traits linked to FAM13A
family with sequence similarity 13 member A
The Human Phenotype Ontology links 20 traits to FAM13A, 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 | Very often (80–99%) |
| Cough | Often (30–79%) |
| Crackles | Often (30–79%) |
| Decreased DLCO | Often (30–79%) |
| Exertional breathlessness | Often (30–79%) |
| Ground-glass opacification | Often (30–79%) |
| Honeycomb lung | Often (30–79%) |
| Permanent enlargement of the airways of the lungs | Often (30–79%) |
| Pulmonary scarring | Often (30–79%) |
| Reduced forced vital capacity | Often (30–79%) |
| Reticular pattern on pulmonary HRCT | Often (30–79%) |
| Subpleural honeycombing | Often (30–79%) |
| Usual interstitial pneumonia | Often (30–79%) |
| Orthodeoxia | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Often (30–79%) |
| Decreased ability to exercise | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Clubbing of fingers | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Pulmonic regurgitation | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Acid reflux | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Persistent blue color of hands or feet | Often (30–79%) |
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 FAM13A and how often each is seen. Find out more at hpo.jax.org.
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