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Trăsături
Trăsături asociate cu CTLA4
cytotoxic T-lymphocyte associated protein 4
Human Phenotype Ontology asociază 179 trăsături cu CTLA4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the immune system
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal lymphocyte morphology | Foarte des (80–99%) |
| Abnormal T cell morphology | Foarte des (80–99%) |
| Bloody nose | Foarte des (80–99%) |
| Cancer of lymphatic system | Foarte des (80–99%) |
| Cutaneous T-cell lymphoma | Foarte des (80–99%) |
| Decreased blood lymphocyte number | Foarte des (80–99%) |
| Granulomatosis | Foarte des (80–99%) |
| Autoimmune hemolytic anemia | Des (30–79%) |
| Autoimmune thrombocytopenia | Des (30–79%) |
| Decreased blood leukocyte number | Des (30–79%) |
| Increased CD4:CD8 ratio | Des (30–79%) |
| Recurrent bleeding into lungs | Des (30–79%) |
| Autoimmune neutropenia | Uneori (5–29%) |
| Blood clot in vein | Uneori (5–29%) |
| Blood spots | Uneori (5–29%) |
| Bone marrow disease | Uneori (5–29%) |
| Diffuse alveolar hemorrhage | Uneori (5–29%) |
| Gastrointestinal bleeding | Uneori (5–29%) |
| Hemolytic anemia | Uneori (5–29%) |
| Low platelet count | Uneori (5–29%) |
| Pure red cell aplasia | Rar (1–4%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dry skin | Foarte des (80–99%) |
| Itching | Foarte des (80–99%) |
| Lichenification | Foarte des (80–99%) |
| Skin cancer | Foarte des (80–99%) |
| Skin plaque | Foarte des (80–99%) |
| Erythematous macule | Des (30–79%) |
| Hair loss | Des (30–79%) |
| Irregular hyperpigmentation | Des (30–79%) |
| Papule | Des (30–79%) |
| Patchy loss of skin color | Des (30–79%) |
| Poikiloderma | Des (30–79%) |
| Poor nail formation | Des (30–79%) |
| Abnormality of the nail | Uneori (5–29%) |
| Diffuse skin atrophy | Uneori (5–29%) |
| Hyperkeratosis | Uneori (5–29%) |
| Open skin sore | Uneori (5–29%) |
| Photosensitive skin | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the nose | Foarte des (80–99%) |
| Abnormality of the oral cavity | Foarte des (80–99%) |
| Sinus disease | Foarte des (80–99%) |
| Blocked tear duct | Des (30–79%) |
| Periorbital edema | Des (30–79%) |
| Recurrent colds | Des (30–79%) |
| Abnormal color of the oral mucosa | Uneori (5–29%) |
| Abnormality of salivation | Uneori (5–29%) |
| Abnormality of the eyelid | Uneori (5–29%) |
| Everted eyelid | Uneori (5–29%) |
| Inflammation of the lips | Uneori (5–29%) |
| Mouth sore | Uneori (5–29%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Lung infiltrates | Foarte des (80–99%) |
| Chronic pulmonary obstruction | Des (30–79%) |
| Cough | Des (30–79%) |
| Coughing up blood | Des (30–79%) |
| Pulmonary scarring | Des (30–79%) |
| Respiratory function loss | Des (30–79%) |
| Abnormal pleura morphology | Uneori (5–29%) |
| Inflammation of tissues lining lungs and chest | Uneori (5–29%) |
| Permanent enlargement of the airways of the lungs | Uneori (5–29%) |
| Spot on the lung | Uneori (5–29%) |
| Stiff lung or chest wall causing decreased lung volume | Uneori (5–29%) |
| Subglottic stenosis | Uneori (5–29%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Anorexia | Foarte des (80–99%) |
| Abdominal pain | Des (30–79%) |
| Diarrhea | Des (30–79%) |
| Enlarged liver | Des (30–79%) |
| Nausea and vomiting | Des (30–79%) |
| Atrophic gastritis | Uneori (5–29%) |
| Crohn's disease | Uneori (5–29%) |
| Inflammation of the large intestine | Uneori (5–29%) |
| Intestinal obstruction | Uneori (5–29%) |
| Lymphocytic infiltration of the colorectal mucosa | Uneori (5–29%) |
| Pancreatic inflammation | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Disruption of blood oxygen supply to brain | Foarte des (80–99%) |
| Inflammation of blood vessel | Foarte des (80–99%) |
| Redness of skin or mucous membrane | Foarte des (80–99%) |
| Swollen lymph nodes | Foarte des (80–99%) |
| High blood pressure | Des (30–79%) |
| Increased spleen size | Des (30–79%) |
| Raynaud phenomenon | Des (30–79%) |
| Abnormal heart rate | Uneori (5–29%) |
| Angina pectoris | Uneori (5–29%) |
| Swelling or irritation of membrane around heart | Uneori (5–29%) |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Peripheral neuropathy | Des (30–79%) |
| Cranial nerve paralysis | Uneori (5–29%) |
| Damage to nerves that sense feeling | Uneori (5–29%) |
| Depression | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
| Headache | Uneori (5–29%) |
| Paralysis on one side of body | Uneori (5–29%) |
| Tremor | Uneori (5–29%) |
| Chorea | Rar (1–4%) |
| Grand mal seizures | Rar (1–4%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Blood in urine | Foarte des (80–99%) |
| Fever | Foarte des (80–99%) |
| High urine protein levels | Foarte des (80–99%) |
| Elevated circulating C-reactive protein concentration | Des (30–79%) |
| High ESR | Des (30–79%) |
| High urine neutrophil count | Des (30–79%) |
| Fluid around lungs | Uneori (5–29%) |
| Fluid retention | Uneori (5–29%) |
| Hypothermia | Uneori (5–29%) |
| Type 1 diabetes | Uneori (5–29%) |
Constitutional symptom
| Trăsătură | Cât de frecvent apare |
|---|---|
| Fatigue | Foarte des (80–99%) |
| Joint pain | Foarte des (80–99%) |
| Malaise | Foarte des (80–99%) |
| Chest pain | Des (30–79%) |
| Chills | Uneori (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Uneori (5–29%) |
| Muscle ache | Uneori (5–29%) |
| Shivering | Uneori (5–29%) |
| Night sweats | Rar (1–4%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of the outer white part of the eye | Des (30–79%) |
| Inflammatory abnormality of the eye | Des (30–79%) |
| Bulging eye | Uneori (5–29%) |
| Corneal inflammation | Uneori (5–29%) |
| Noninflammatory retina disease | Uneori (5–29%) |
| Visual impairment | Uneori (5–29%) |
| Optic neuritis | Rar (1–4%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Glomerulopathy | Foarte des (80–99%) |
| Glomerulonephritis | Des (30–79%) |
| Lupus nephritis | Des (30–79%) |
| Hydronephrosis | Uneori (5–29%) |
| Inflammation of the prostate | Uneori (5–29%) |
| Narrowing of the ureter | Uneori (5–29%) |
| Renal failure | Uneori (5–29%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Decreased circulating antibody level | Foarte des (80–99%) |
| Decreased circulating IgA concentration | Des (30–79%) |
| Decreased circulating IgG concentration | Des (30–79%) |
| Decreased circulating IgM concentration | Des (30–79%) |
| Abnormal circulating immunoglobulin concentration | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Middle ear infection | Foarte des (80–99%) |
| Chronic infections of the middle ear | Uneori (5–29%) |
| Sensorineural hearing impairment | Uneori (5–29%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Des (30–79%) |
| Diabetes insipidus | Uneori (5–29%) |
| Thyroid gland inflammation | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Arthritis | Des (30–79%) |
| Polyarticular arthritis | Des (30–79%) |
| Muscle degeneration | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Weight loss | Foarte des (80–99%) |
| Growth delay | Uneori (5–29%) |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Thickening of palms and soles | Des (30–79%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu CTLA4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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