AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Traits
Traits linked to PIK3CD
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
The Human Phenotype Ontology links 137 traits to PIK3CD, by body system: features seen in people with one of the gene's rare conditions.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
Abnormality of the immune system
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Recurrent sinus disease | Always |
| Pink eye | Very often (80–99%) |
| Sinus disease | Very often (80–99%) |
| Abnormal facial shape | Often (30–79%) |
| Abnormality of the chin | Often (30–79%) |
| Baggy eyes | Often (30–79%) |
| Broad nasal tip | Often (30–79%) |
| Chronic oral thrush | Often (30–79%) |
| Decreased volume of lower lip | Often (30–79%) |
| Depressed nasal bridge | Often (30–79%) |
| Flattened bony protrusion above eyes | Often (30–79%) |
| Fullness of eyelids | Often (30–79%) |
| High forehead | Often (30–79%) |
| Low hairline at back of neck | Often (30–79%) |
| Myopathic facies | Often (30–79%) |
| Narrowing of the tear duct | Often (30–79%) |
| Nasal tip, upturned | Often (30–79%) |
| Wide nasal bridge | Often (30–79%) |
| Dacryocystitis | Sometimes (5–29%) |
| Eye folds | Sometimes (5–29%) |
| Flat forehead | Sometimes (5–29%) |
| Frontal bossing | Sometimes (5–29%) |
| High palate | Sometimes (5–29%) |
| Short neck | Not recorded |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Abnormal natural killer cell physiology | Always |
| Decreased circulating IgA concentration | Always |
| Decreased circulating IgG concentration | Always |
| Agammaglobulinemia | Very often (80–99%) |
| Decreased circulating IgG2 concentration | Very often (80–99%) |
| Increased circulating IgM concentration | Very often (80–99%) |
| Chronic decreased circulating IgA concentration | Often (30–79%) |
| Decreased anti-CD3/28-induced T-cell proliferation | Often (30–79%) |
| Decreased circulating antibody level | Often (30–79%) |
| Decreased circulating IgM concentration | Often (30–79%) |
| Decreased circulating total IgG concentration | Often (30–79%) |
| Decreased mitogen-induced T-cell proliferation | 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 |
| Increased number of platelets in blood | Always |
| Low B cell count | Always |
| Increased transitional B cell proportion | Very often (80–99%) |
| Abnormal T cell subset number | Often (30–79%) |
| Decreased class-switched memory B cell proportion | Often (30–79%) |
| Decreased total CD4+ T cell proportion | Often (30–79%) |
| Low T cell count | Often (30–79%) |
| Reduced total natural killer cell count | Often (30–79%) |
| Low blood neutrophil count | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Candida esophagitis | Always |
| Chronic diarrhea | Always |
| Colitis | Always |
| Inflammation of the large intestine | Always |
| Diarrhea | Very often (80–99%) |
| Acid reflux | Often (30–79%) |
| Enlarged liver | Often (30–79%) |
| Intestinal lymphoid nodular hyperplasia | Often (30–79%) |
| Nasogastric tube feeding | Often (30–79%) |
| Umbilical hernia | Often (30–79%) |
| Liver inflammation | Sometimes (5–29%) |
| Malabsorption | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Broad middle finger bones | Often (30–79%) |
| Curvature of index finger | Often (30–79%) |
| Curvature of middle finger | Often (30–79%) |
| Curvature of ring finger | Often (30–79%) |
| High-arched foot | Often (30–79%) |
| Short outermost bone of the thumb | Often (30–79%) |
| Short long bone of foot | Not recorded |
| Shortened long bone of hand | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Polyarticular arthritis | Always |
| Abnormality of the skeletal system | Often (30–79%) |
| Arthritis | Often (30–79%) |
| Cone-shaped end part of bone | Often (30–79%) |
| Low muscle tone, in neonatal onset | Often (30–79%) |
| Osteopenia | Often (30–79%) |
| Prominent swayback | Often (30–79%) |
| Bacterial infection of skin | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Ataxia | Often (30–79%) |
| Generalized myoclonic seizure | Often (30–79%) |
| Global developmental delay | Often (30–79%) |
| Intellectual disability | Often (30–79%) |
| Intention tremor | Often (30–79%) |
| Positive Romberg sign | Often (30–79%) |
| Ventriculomegaly | Often (30–79%) |
| Disorder of involuntary muscle movements | Not recorded |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Aberrant right subclavian artery | Often (30–79%) |
| Increased spleen size | Often (30–79%) |
| Swollen lymph nodes | Often (30–79%) |
| Recurrent inflammation of tonsils | Sometimes (5–29%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Deeply set eye | Often (30–79%) |
| Optic nerve hypoplasia | Often (30–79%) |
| Wide-set eyes | Often (30–79%) |
| Optic atrophy | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Chronic infections of the middle ear | Very often (80–99%) |
| Prominent ear | Often (30–79%) |
| Abnormally shaped ears | Sometimes (5–29%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Absent kidney on one side | Often (30–79%) |
| Frequent urinary tract infections | Often (30–79%) |
| Abnormal kidney location | Not recorded |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Excessive hair growth | Often (30–79%) |
| Patchy darkened skin | Often (30–79%) |
| Warts | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Cough | Very often (80–99%) |
| Neonatal respiratory distress | Often (30–79%) |
| Permanent enlargement of the airways of the lungs | Often (30–79%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Fever | Very often (80–99%) |
| Dehydration | Sometimes (5–29%) |
| Persistent CMV viremia | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Faltering weight | Often (30–79%) |
| Short stature | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Wide-spaced nipples | Often (30–79%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Very often (80–99%) |
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 PIK3CD and how often each is seen. Find out more at hpo.jax.org.
AtlasWho We HelpOur ScienceProductsOutcomes
Log InAskSequence your genome↗
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks