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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su CTLA4 susiję požymiai
cytotoxic T-lymphocyte associated protein 4
Žmogaus fenotipo ontologija sieja 179 požymių su CTLA4, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of the immune system
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal lymphocyte morphology | Labai dažnai (80–99%) |
| Abnormal T cell morphology | Labai dažnai (80–99%) |
| Bloody nose | Labai dažnai (80–99%) |
| Cancer of lymphatic system | Labai dažnai (80–99%) |
| Cutaneous T-cell lymphoma | Labai dažnai (80–99%) |
| Decreased blood lymphocyte number | Labai dažnai (80–99%) |
| Granulomatosis | Labai dažnai (80–99%) |
| Autoimmune hemolytic anemia | Dažnai (30–79%) |
| Autoimmune thrombocytopenia | Dažnai (30–79%) |
| Decreased blood leukocyte number | Dažnai (30–79%) |
| Increased CD4:CD8 ratio | Dažnai (30–79%) |
| Recurrent bleeding into lungs | Dažnai (30–79%) |
| Autoimmune neutropenia | Kartais (5–29%) |
| Blood clot in vein | Kartais (5–29%) |
| Blood spots | Kartais (5–29%) |
| Bone marrow disease | Kartais (5–29%) |
| Diffuse alveolar hemorrhage | Kartais (5–29%) |
| Gastrointestinal bleeding | Kartais (5–29%) |
| Hemolytic anemia | Kartais (5–29%) |
| Low platelet count | Kartais (5–29%) |
| Pure red cell aplasia | Retai (1–4 %) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Dry skin | Labai dažnai (80–99%) |
| Itching | Labai dažnai (80–99%) |
| Lichenification | Labai dažnai (80–99%) |
| Skin cancer | Labai dažnai (80–99%) |
| Skin plaque | Labai dažnai (80–99%) |
| Erythematous macule | Dažnai (30–79%) |
| Hair loss | Dažnai (30–79%) |
| Irregular hyperpigmentation | Dažnai (30–79%) |
| Papule | Dažnai (30–79%) |
| Patchy loss of skin color | Dažnai (30–79%) |
| Poikiloderma | Dažnai (30–79%) |
| Poor nail formation | Dažnai (30–79%) |
| Abnormality of the nail | Kartais (5–29%) |
| Diffuse skin atrophy | Kartais (5–29%) |
| Hyperkeratosis | Kartais (5–29%) |
| Open skin sore | Kartais (5–29%) |
| Photosensitive skin | Kartais (5–29%) |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the nose | Labai dažnai (80–99%) |
| Abnormality of the oral cavity | Labai dažnai (80–99%) |
| Sinus disease | Labai dažnai (80–99%) |
| Blocked tear duct | Dažnai (30–79%) |
| Periorbital edema | Dažnai (30–79%) |
| Recurrent colds | Dažnai (30–79%) |
| Abnormal color of the oral mucosa | Kartais (5–29%) |
| Abnormality of salivation | Kartais (5–29%) |
| Abnormality of the eyelid | Kartais (5–29%) |
| Everted eyelid | Kartais (5–29%) |
| Inflammation of the lips | Kartais (5–29%) |
| Mouth sore | Kartais (5–29%) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Lung infiltrates | Labai dažnai (80–99%) |
| Chronic pulmonary obstruction | Dažnai (30–79%) |
| Cough | Dažnai (30–79%) |
| Coughing up blood | Dažnai (30–79%) |
| Pulmonary scarring | Dažnai (30–79%) |
| Respiratory function loss | Dažnai (30–79%) |
| Abnormal pleura morphology | Kartais (5–29%) |
| Inflammation of tissues lining lungs and chest | Kartais (5–29%) |
| Permanent enlargement of the airways of the lungs | Kartais (5–29%) |
| Spot on the lung | Kartais (5–29%) |
| Stiff lung or chest wall causing decreased lung volume | Kartais (5–29%) |
| Subglottic stenosis | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Anorexia | Labai dažnai (80–99%) |
| Abdominal pain | Dažnai (30–79%) |
| Diarrhea | Dažnai (30–79%) |
| Enlarged liver | Dažnai (30–79%) |
| Nausea and vomiting | Dažnai (30–79%) |
| Atrophic gastritis | Kartais (5–29%) |
| Crohn's disease | Kartais (5–29%) |
| Inflammation of the large intestine | Kartais (5–29%) |
| Intestinal obstruction | Kartais (5–29%) |
| Lymphocytic infiltration of the colorectal mucosa | Kartais (5–29%) |
| Pancreatic inflammation | Kartais (5–29%) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Disruption of blood oxygen supply to brain | Labai dažnai (80–99%) |
| Inflammation of blood vessel | Labai dažnai (80–99%) |
| Redness of skin or mucous membrane | Labai dažnai (80–99%) |
| Swollen lymph nodes | Labai dažnai (80–99%) |
| High blood pressure | Dažnai (30–79%) |
| Increased spleen size | Dažnai (30–79%) |
| Raynaud phenomenon | Dažnai (30–79%) |
| Abnormal heart rate | Kartais (5–29%) |
| Angina pectoris | Kartais (5–29%) |
| Swelling or irritation of membrane around heart | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Peripheral neuropathy | Dažnai (30–79%) |
| Cranial nerve paralysis | Kartais (5–29%) |
| Damage to nerves that sense feeling | Kartais (5–29%) |
| Depression | Kartais (5–29%) |
| Epilepsy | Kartais (5–29%) |
| Headache | Kartais (5–29%) |
| Paralysis on one side of body | Kartais (5–29%) |
| Tremor | Kartais (5–29%) |
| Chorea | Retai (1–4 %) |
| Grand mal seizures | Retai (1–4 %) |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Blood in urine | Labai dažnai (80–99%) |
| Fever | Labai dažnai (80–99%) |
| High urine protein levels | Labai dažnai (80–99%) |
| Elevated circulating C-reactive protein concentration | Dažnai (30–79%) |
| High ESR | Dažnai (30–79%) |
| High urine neutrophil count | Dažnai (30–79%) |
| Fluid around lungs | Kartais (5–29%) |
| Fluid retention | Kartais (5–29%) |
| Hypothermia | Kartais (5–29%) |
| Type 1 diabetes | Kartais (5–29%) |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fatigue | Labai dažnai (80–99%) |
| Joint pain | Labai dažnai (80–99%) |
| Malaise | Labai dažnai (80–99%) |
| Chest pain | Dažnai (30–79%) |
| Chills | Kartais (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Kartais (5–29%) |
| Muscle ache | Kartais (5–29%) |
| Shivering | Kartais (5–29%) |
| Night sweats | Retai (1–4 %) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inflammation of the outer white part of the eye | Dažnai (30–79%) |
| Inflammatory abnormality of the eye | Dažnai (30–79%) |
| Bulging eye | Kartais (5–29%) |
| Corneal inflammation | Kartais (5–29%) |
| Noninflammatory retina disease | Kartais (5–29%) |
| Visual impairment | Kartais (5–29%) |
| Optic neuritis | Retai (1–4 %) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Glomerulopathy | Labai dažnai (80–99%) |
| Glomerulonephritis | Dažnai (30–79%) |
| Lupus nephritis | Dažnai (30–79%) |
| Hydronephrosis | Kartais (5–29%) |
| Inflammation of the prostate | Kartais (5–29%) |
| Narrowing of the ureter | Kartais (5–29%) |
| Renal failure | Kartais (5–29%) |
Abnormal cellular phenotype
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Decreased circulating antibody level | Labai dažnai (80–99%) |
| Decreased circulating IgA concentration | Dažnai (30–79%) |
| Decreased circulating IgG concentration | Dažnai (30–79%) |
| Decreased circulating IgM concentration | Dažnai (30–79%) |
| Abnormal circulating immunoglobulin concentration | Kartais (5–29%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Middle ear infection | Labai dažnai (80–99%) |
| Chronic infections of the middle ear | Kartais (5–29%) |
| Sensorineural hearing impairment | Kartais (5–29%) |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Dažnai (30–79%) |
| Diabetes insipidus | Kartais (5–29%) |
| Thyroid gland inflammation | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Arthritis | Dažnai (30–79%) |
| Polyarticular arthritis | Dažnai (30–79%) |
| Muscle degeneration | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Weight loss | Labai dažnai (80–99%) |
| Growth delay | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Thickening of palms and soles | Dažnai (30–79%) |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
Iš kur tai žinoma
- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su CTLA4 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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