AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
Abnormality of the immune system
Abnormality of blood and blood-forming tissues
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormal lymphocyte morphology | Hyvin usein (80–99%) |
| Abnormal T cell morphology | Hyvin usein (80–99%) |
| Bloody nose | Hyvin usein (80–99%) |
| Cancer of lymphatic system | Hyvin usein (80–99%) |
| Cutaneous T-cell lymphoma | Hyvin usein (80–99%) |
| Decreased blood lymphocyte number | Hyvin usein (80–99%) |
| Granulomatosis | Hyvin usein (80–99%) |
| Autoimmune hemolytic anemia | Usein (30–79%) |
| Autoimmune thrombocytopenia | Usein (30–79%) |
| Decreased blood leukocyte number | Usein (30–79%) |
| Increased CD4:CD8 ratio | Usein (30–79%) |
| Recurrent bleeding into lungs | Usein (30–79%) |
| Autoimmune neutropenia | Joskus (5–29%) |
| Blood clot in vein | Joskus (5–29%) |
| Blood spots | Joskus (5–29%) |
| Bone marrow disease | Joskus (5–29%) |
| Diffuse alveolar hemorrhage | Joskus (5–29%) |
| Gastrointestinal bleeding | Joskus (5–29%) |
| Hemolytic anemia | Joskus (5–29%) |
| Low platelet count | Joskus (5–29%) |
| Pure red cell aplasia | Harvinainen (1–4 %) |
Abnormality of the integument
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Dry skin | Hyvin usein (80–99%) |
| Itching | Hyvin usein (80–99%) |
| Lichenification | Hyvin usein (80–99%) |
| Skin cancer | Hyvin usein (80–99%) |
| Skin plaque | Hyvin usein (80–99%) |
| Erythematous macule | Usein (30–79%) |
| Hair loss | Usein (30–79%) |
| Irregular hyperpigmentation | Usein (30–79%) |
| Papule | Usein (30–79%) |
| Patchy loss of skin color | Usein (30–79%) |
| Poikiloderma | Usein (30–79%) |
| Poor nail formation | Usein (30–79%) |
| Abnormality of the nail | Joskus (5–29%) |
| Diffuse skin atrophy | Joskus (5–29%) |
| Hyperkeratosis | Joskus (5–29%) |
| Open skin sore | Joskus (5–29%) |
| Photosensitive skin | Joskus (5–29%) |
Abnormality of head or neck
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormality of the nose | Hyvin usein (80–99%) |
| Abnormality of the oral cavity | Hyvin usein (80–99%) |
| Sinus disease | Hyvin usein (80–99%) |
| Blocked tear duct | Usein (30–79%) |
| Periorbital edema | Usein (30–79%) |
| Recurrent colds | Usein (30–79%) |
| Abnormal color of the oral mucosa | Joskus (5–29%) |
| Abnormality of salivation | Joskus (5–29%) |
| Abnormality of the eyelid | Joskus (5–29%) |
| Everted eyelid | Joskus (5–29%) |
| Inflammation of the lips | Joskus (5–29%) |
| Mouth sore | Joskus (5–29%) |
Abnormality of the respiratory system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Lung infiltrates | Hyvin usein (80–99%) |
| Chronic pulmonary obstruction | Usein (30–79%) |
| Cough | Usein (30–79%) |
| Coughing up blood | Usein (30–79%) |
| Pulmonary scarring | Usein (30–79%) |
| Respiratory function loss | Usein (30–79%) |
| Abnormal pleura morphology | Joskus (5–29%) |
| Inflammation of tissues lining lungs and chest | Joskus (5–29%) |
| Permanent enlargement of the airways of the lungs | Joskus (5–29%) |
| Spot on the lung | Joskus (5–29%) |
| Stiff lung or chest wall causing decreased lung volume | Joskus (5–29%) |
| Subglottic stenosis | Joskus (5–29%) |
Abnormality of the digestive system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Anorexia | Hyvin usein (80–99%) |
| Abdominal pain | Usein (30–79%) |
| Diarrhea | Usein (30–79%) |
| Enlarged liver | Usein (30–79%) |
| Nausea and vomiting | Usein (30–79%) |
| Atrophic gastritis | Joskus (5–29%) |
| Crohn's disease | Joskus (5–29%) |
| Inflammation of the large intestine | Joskus (5–29%) |
| Intestinal obstruction | Joskus (5–29%) |
| Lymphocytic infiltration of the colorectal mucosa | Joskus (5–29%) |
| Pancreatic inflammation | Joskus (5–29%) |
Abnormality of the cardiovascular system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Disruption of blood oxygen supply to brain | Hyvin usein (80–99%) |
| Inflammation of blood vessel | Hyvin usein (80–99%) |
| Redness of skin or mucous membrane | Hyvin usein (80–99%) |
| Swollen lymph nodes | Hyvin usein (80–99%) |
| High blood pressure | Usein (30–79%) |
| Increased spleen size | Usein (30–79%) |
| Raynaud phenomenon | Usein (30–79%) |
| Abnormal heart rate | Joskus (5–29%) |
| Angina pectoris | Joskus (5–29%) |
| Swelling or irritation of membrane around heart | Joskus (5–29%) |
Abnormality of the nervous system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Peripheral neuropathy | Usein (30–79%) |
| Cranial nerve paralysis | Joskus (5–29%) |
| Damage to nerves that sense feeling | Joskus (5–29%) |
| Depression | Joskus (5–29%) |
| Epilepsy | Joskus (5–29%) |
| Headache | Joskus (5–29%) |
| Paralysis on one side of body | Joskus (5–29%) |
| Tremor | Joskus (5–29%) |
| Chorea | Harvinainen (1–4 %) |
| Grand mal seizures | Harvinainen (1–4 %) |
Laboratory abnormality
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Blood in urine | Hyvin usein (80–99%) |
| Fever | Hyvin usein (80–99%) |
| High urine protein levels | Hyvin usein (80–99%) |
| Elevated circulating C-reactive protein concentration | Usein (30–79%) |
| High ESR | Usein (30–79%) |
| High urine neutrophil count | Usein (30–79%) |
| Fluid around lungs | Joskus (5–29%) |
| Fluid retention | Joskus (5–29%) |
| Hypothermia | Joskus (5–29%) |
| Type 1 diabetes | Joskus (5–29%) |
Constitutional symptom
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Fatigue | Hyvin usein (80–99%) |
| Joint pain | Hyvin usein (80–99%) |
| Malaise | Hyvin usein (80–99%) |
| Chest pain | Usein (30–79%) |
| Chills | Joskus (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Joskus (5–29%) |
| Muscle ache | Joskus (5–29%) |
| Shivering | Joskus (5–29%) |
| Night sweats | Harvinainen (1–4 %) |
Abnormality of the eye
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Inflammation of the outer white part of the eye | Usein (30–79%) |
| Inflammatory abnormality of the eye | Usein (30–79%) |
| Bulging eye | Joskus (5–29%) |
| Corneal inflammation | Joskus (5–29%) |
| Noninflammatory retina disease | Joskus (5–29%) |
| Visual impairment | Joskus (5–29%) |
| Optic neuritis | Harvinainen (1–4 %) |
Abnormality of the genitourinary system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Glomerulopathy | Hyvin usein (80–99%) |
| Glomerulonephritis | Usein (30–79%) |
| Lupus nephritis | Usein (30–79%) |
| Hydronephrosis | Joskus (5–29%) |
| Inflammation of the prostate | Joskus (5–29%) |
| Narrowing of the ureter | Joskus (5–29%) |
| Renal failure | Joskus (5–29%) |
Abnormal cellular phenotype
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Decreased circulating antibody level | Hyvin usein (80–99%) |
| Decreased circulating IgA concentration | Usein (30–79%) |
| Decreased circulating IgG concentration | Usein (30–79%) |
| Decreased circulating IgM concentration | Usein (30–79%) |
| Abnormal circulating immunoglobulin concentration | Joskus (5–29%) |
Abnormality of the ear
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Middle ear infection | Hyvin usein (80–99%) |
| Chronic infections of the middle ear | Joskus (5–29%) |
| Sensorineural hearing impairment | Joskus (5–29%) |
Abnormality of the endocrine system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Usein (30–79%) |
| Diabetes insipidus | Joskus (5–29%) |
| Thyroid gland inflammation | Joskus (5–29%) |
Abnormality of the musculoskeletal system
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Arthritis | Usein (30–79%) |
| Polyarticular arthritis | Usein (30–79%) |
| Muscle degeneration | Joskus (5–29%) |
Growth abnormality
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Weight loss | Hyvin usein (80–99%) |
| Growth delay | Joskus (5–29%) |
Abnormality of limbs
| Trait | Kuinka usein sitä esiintyy |
|---|---|
| Thickening of palms and soles | Usein (30–79%) |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
Mistä tämä tieto tulee
- 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.
AtlasKeitä autammeTieteemmeTuotteetTulokset
Kirjaudu sisäänKysySekvensoi genomisi↗
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