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Traits
Traits linked to ARPC5
actin related protein 2/3 complex subunit 5
The Human Phenotype Ontology links 32 traits to ARPC5, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the immune system
| Trait | How often it is seen |
|---|---|
| Decreased immune function | Always |
| Recurrent bacterial infections | Always |
| Recurrent respiratory infections | Always |
| Eczema | Often (30–79%) |
| Muscle inflammation | Often (30–79%) |
| Recurrent fungal infections | Often (30–79%) |
| Recurrent viral infections | Often (30–79%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Elevated white blood count | Always |
| High blood monocyte number | Always |
| Increased blood neutrophil counts | Always |
| Rectal bleeding | Always |
| Autoimmune hemolytic anemia | Often (30–79%) |
| Autoimmune thrombocytopenia | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Always |
| Celiac disease | Often (30–79%) |
| Liver inflammation | Often (30–79%) |
| Paralytic ileus | Often (30–79%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Pulmonary pneumatocele | Always |
| Coughing up blood | Often (30–79%) |
| Intraalveolar phospholipid accumulation | Often (30–79%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Increased circulating IgA concentration | Always |
| Increased circulating IgE concentration | Often (30–79%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Scoliosis | Always |
| Involuntary muscle stiffness, contraction, or spasm | Often (30–79%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Prenatal growth deficiency | Often (30–79%) |
| Short stature | Often (30–79%) |
Abnormality of prenatal development or birth
| Trait | How often it is seen |
|---|---|
| Neonatal omphalitis | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Increased spleen size | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Minimal change glomerulonephritis | Often (30–79%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Poor wound healing | Always |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Global developmental delay | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated circulating C-reactive protein concentration | Always |
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 ARPC5 and how often each is seen. Find out more at hpo.jax.org.
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