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Traits
Traits linked to CTLA4
cytotoxic T-lymphocyte associated protein 4
The Human Phenotype Ontology links 179 traits to CTLA4, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of the immune system
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Abnormal lymphocyte morphology | Very often (80–99%) |
| Abnormal T cell morphology | Very often (80–99%) |
| Bloody nose | Very often (80–99%) |
| Cancer of lymphatic system | Very often (80–99%) |
| Cutaneous T-cell lymphoma | Very often (80–99%) |
| Decreased blood lymphocyte number | Very often (80–99%) |
| Granulomatosis | Very often (80–99%) |
| Autoimmune hemolytic anemia | Often (30–79%) |
| Autoimmune thrombocytopenia | Often (30–79%) |
| Decreased blood leukocyte number | Often (30–79%) |
| Increased CD4:CD8 ratio | Often (30–79%) |
| Recurrent bleeding into lungs | Often (30–79%) |
| Autoimmune neutropenia | Sometimes (5–29%) |
| Blood clot in vein | Sometimes (5–29%) |
| Blood spots | Sometimes (5–29%) |
| Bone marrow disease | Sometimes (5–29%) |
| Diffuse alveolar hemorrhage | Sometimes (5–29%) |
| Gastrointestinal bleeding | Sometimes (5–29%) |
| Hemolytic anemia | Sometimes (5–29%) |
| Low platelet count | Sometimes (5–29%) |
| Pure red cell aplasia | Rarely (1–4%) |
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Dry skin | Very often (80–99%) |
| Itching | Very often (80–99%) |
| Lichenification | Very often (80–99%) |
| Skin cancer | Very often (80–99%) |
| Skin plaque | Very often (80–99%) |
| Erythematous macule | Often (30–79%) |
| Hair loss | Often (30–79%) |
| Irregular hyperpigmentation | Often (30–79%) |
| Papule | Often (30–79%) |
| Patchy loss of skin color | Often (30–79%) |
| Poikiloderma | Often (30–79%) |
| Poor nail formation | Often (30–79%) |
| Abnormality of the nail | Sometimes (5–29%) |
| Diffuse skin atrophy | Sometimes (5–29%) |
| Hyperkeratosis | Sometimes (5–29%) |
| Open skin sore | Sometimes (5–29%) |
| Photosensitive skin | Sometimes (5–29%) |
Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Abnormality of the nose | Very often (80–99%) |
| Abnormality of the oral cavity | Very often (80–99%) |
| Sinus disease | Very often (80–99%) |
| Blocked tear duct | Often (30–79%) |
| Periorbital edema | Often (30–79%) |
| Recurrent colds | Often (30–79%) |
| Abnormal color of the oral mucosa | Sometimes (5–29%) |
| Abnormality of salivation | Sometimes (5–29%) |
| Abnormality of the eyelid | Sometimes (5–29%) |
| Everted eyelid | Sometimes (5–29%) |
| Inflammation of the lips | Sometimes (5–29%) |
| Mouth sore | Sometimes (5–29%) |
Abnormality of the respiratory system
| Trait | How often it is seen |
|---|---|
| Lung infiltrates | Very often (80–99%) |
| Chronic pulmonary obstruction | Often (30–79%) |
| Cough | Often (30–79%) |
| Coughing up blood | Often (30–79%) |
| Pulmonary scarring | Often (30–79%) |
| Respiratory function loss | Often (30–79%) |
| Abnormal pleura morphology | Sometimes (5–29%) |
| Inflammation of tissues lining lungs and chest | Sometimes (5–29%) |
| Permanent enlargement of the airways of the lungs | Sometimes (5–29%) |
| Spot on the lung | Sometimes (5–29%) |
| Stiff lung or chest wall causing decreased lung volume | Sometimes (5–29%) |
| Subglottic stenosis | Sometimes (5–29%) |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Anorexia | Very often (80–99%) |
| Abdominal pain | Often (30–79%) |
| Diarrhea | Often (30–79%) |
| Enlarged liver | Often (30–79%) |
| Nausea and vomiting | Often (30–79%) |
| Atrophic gastritis | Sometimes (5–29%) |
| Crohn's disease | Sometimes (5–29%) |
| Inflammation of the large intestine | Sometimes (5–29%) |
| Intestinal obstruction | Sometimes (5–29%) |
| Lymphocytic infiltration of the colorectal mucosa | Sometimes (5–29%) |
| Pancreatic inflammation | Sometimes (5–29%) |
Abnormality of the cardiovascular system
| Trait | How often it is seen |
|---|---|
| Disruption of blood oxygen supply to brain | Very often (80–99%) |
| Inflammation of blood vessel | Very often (80–99%) |
| Redness of skin or mucous membrane | Very often (80–99%) |
| Swollen lymph nodes | Very often (80–99%) |
| High blood pressure | Often (30–79%) |
| Increased spleen size | Often (30–79%) |
| Raynaud phenomenon | Often (30–79%) |
| Abnormal heart rate | Sometimes (5–29%) |
| Angina pectoris | Sometimes (5–29%) |
| Swelling or irritation of membrane around heart | Sometimes (5–29%) |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Peripheral neuropathy | Often (30–79%) |
| Cranial nerve paralysis | Sometimes (5–29%) |
| Damage to nerves that sense feeling | Sometimes (5–29%) |
| Depression | Sometimes (5–29%) |
| Epilepsy | Sometimes (5–29%) |
| Headache | Sometimes (5–29%) |
| Paralysis on one side of body | Sometimes (5–29%) |
| Tremor | Sometimes (5–29%) |
| Chorea | Rarely (1–4%) |
| Grand mal seizures | Rarely (1–4%) |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Blood in urine | Very often (80–99%) |
| Fever | Very often (80–99%) |
| High urine protein levels | Very often (80–99%) |
| Elevated circulating C-reactive protein concentration | Often (30–79%) |
| High ESR | Often (30–79%) |
| High urine neutrophil count | Often (30–79%) |
| Fluid around lungs | Sometimes (5–29%) |
| Fluid retention | Sometimes (5–29%) |
| Hypothermia | Sometimes (5–29%) |
| Type 1 diabetes | Sometimes (5–29%) |
Constitutional symptom
| Trait | How often it is seen |
|---|---|
| Fatigue | Very often (80–99%) |
| Joint pain | Very often (80–99%) |
| Malaise | Very often (80–99%) |
| Chest pain | Often (30–79%) |
| Chills | Sometimes (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Sometimes (5–29%) |
| Muscle ache | Sometimes (5–29%) |
| Shivering | Sometimes (5–29%) |
| Night sweats | Rarely (1–4%) |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Inflammation of the outer white part of the eye | Often (30–79%) |
| Inflammatory abnormality of the eye | Often (30–79%) |
| Bulging eye | Sometimes (5–29%) |
| Corneal inflammation | Sometimes (5–29%) |
| Noninflammatory retina disease | Sometimes (5–29%) |
| Visual impairment | Sometimes (5–29%) |
| Optic neuritis | Rarely (1–4%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Glomerulopathy | Very often (80–99%) |
| Glomerulonephritis | Often (30–79%) |
| Lupus nephritis | Often (30–79%) |
| Hydronephrosis | Sometimes (5–29%) |
| Inflammation of the prostate | Sometimes (5–29%) |
| Narrowing of the ureter | Sometimes (5–29%) |
| Renal failure | Sometimes (5–29%) |
Abnormal cellular phenotype
| Trait | How often it is seen |
|---|---|
| Decreased circulating antibody level | Very often (80–99%) |
| Decreased circulating IgA concentration | Often (30–79%) |
| Decreased circulating IgG concentration | Often (30–79%) |
| Decreased circulating IgM concentration | Often (30–79%) |
| Abnormal circulating immunoglobulin concentration | Sometimes (5–29%) |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Middle ear infection | Very often (80–99%) |
| Chronic infections of the middle ear | Sometimes (5–29%) |
| Sensorineural hearing impairment | Sometimes (5–29%) |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Often (30–79%) |
| Diabetes insipidus | Sometimes (5–29%) |
| Thyroid gland inflammation | Sometimes (5–29%) |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Arthritis | Often (30–79%) |
| Polyarticular arthritis | Often (30–79%) |
| Muscle degeneration | Sometimes (5–29%) |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Weight loss | Very often (80–99%) |
| Growth delay | Sometimes (5–29%) |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Thickening of palms and soles | 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 CTLA4 and how often each is seen. Find out more at hpo.jax.org.
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