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Traits
Traits linked to PRKCD
protein kinase C delta
The Human Phenotype Ontology links 41 traits to PRKCD, 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 |
|---|---|
| Absent circulating isohemagglutinin | Always |
| Anticardiolipin IgG antibody positivity | Always |
| Antinuclear antibody positivity | Always |
| Recurrent chest infections | Always |
| Recurrent infections | Always |
| Decreased circulating complement C3 concentration | Often (30–79%) |
| Decreased circulating complement C4 concentration | Often (30–79%) |
| Autoimmunity | Not recorded |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Decreased class-switched memory B cell proportion | Always |
| Decreased memory B cell proportion | Always |
| Increased CD21low B cell proportion | Always |
| Increased total B cell count | Always |
| Autoimmune hemolytic anemia | Often (30–79%) |
| Autoimmune thrombocytopenia | Often (30–79%) |
| Lymphoproliferative disorder | Often (30–79%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Enlarged liver and spleen | Always |
| Follicular hyperplasia | Always |
| Generalized swelling of lymph nodes | Always |
| Obstruction of the superior vena cava | Always |
| Swollen lymph nodes | Always |
| Swollen lymph nodes in center of chest | Always |
| Increased spleen size | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Elevated circulating alanine aminotransferase concentration | Always |
| Elevated circulating aspartate aminotransferase concentration | Always |
| Elevated circulating C-reactive protein concentration | Always |
| Episodic fever | Always |
| High ESR | Always |
| Persistent EBV viremia | Always |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Frequent urinary tract infections | Always |
| Membranous nephropathy | Always |
| Nephrotic syndrome | Always |
| Stage 5 chronic kidney disease | Often (30–79%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Abnormal natural killer cell physiology | Always |
| Increased antibody level in blood | Always |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Recurrent colds | Always |
| Recurrent sinus disease | Always |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Erythematous macule | Always |
| Hair loss | Often (30–79%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Enlarged liver | Often (30–79%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Recurrent middle ear infection | Always |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Arthritis | 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 PRKCD and how often each is seen. Find out more at hpo.jax.org.
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