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Tunnused
Geeniga CTLA4 seotud tunnused
cytotoxic T-lymphocyte associated protein 4
Inimese fenotüübi ontoloogia seostab geeniga CTLA4 179 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Abnormality of the immune system
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal lymphocyte morphology | Väga sageli (80–99%) |
| Abnormal T cell morphology | Väga sageli (80–99%) |
| Bloody nose | Väga sageli (80–99%) |
| Cancer of lymphatic system | Väga sageli (80–99%) |
| Cutaneous T-cell lymphoma | Väga sageli (80–99%) |
| Decreased blood lymphocyte number | Väga sageli (80–99%) |
| Granulomatosis | Väga sageli (80–99%) |
| Autoimmune hemolytic anemia | Sageli (30–79%) |
| Autoimmune thrombocytopenia | Sageli (30–79%) |
| Decreased blood leukocyte number | Sageli (30–79%) |
| Increased CD4:CD8 ratio | Sageli (30–79%) |
| Recurrent bleeding into lungs | Sageli (30–79%) |
| Autoimmune neutropenia | Mõnikord (5–29%) |
| Blood clot in vein | Mõnikord (5–29%) |
| Blood spots | Mõnikord (5–29%) |
| Bone marrow disease | Mõnikord (5–29%) |
| Diffuse alveolar hemorrhage | Mõnikord (5–29%) |
| Gastrointestinal bleeding | Mõnikord (5–29%) |
| Hemolytic anemia | Mõnikord (5–29%) |
| Low platelet count | Mõnikord (5–29%) |
| Pure red cell aplasia | Harva (1–4%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dry skin | Väga sageli (80–99%) |
| Itching | Väga sageli (80–99%) |
| Lichenification | Väga sageli (80–99%) |
| Skin cancer | Väga sageli (80–99%) |
| Skin plaque | Väga sageli (80–99%) |
| Erythematous macule | Sageli (30–79%) |
| Hair loss | Sageli (30–79%) |
| Irregular hyperpigmentation | Sageli (30–79%) |
| Papule | Sageli (30–79%) |
| Patchy loss of skin color | Sageli (30–79%) |
| Poikiloderma | Sageli (30–79%) |
| Poor nail formation | Sageli (30–79%) |
| Abnormality of the nail | Mõnikord (5–29%) |
| Diffuse skin atrophy | Mõnikord (5–29%) |
| Hyperkeratosis | Mõnikord (5–29%) |
| Open skin sore | Mõnikord (5–29%) |
| Photosensitive skin | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the nose | Väga sageli (80–99%) |
| Abnormality of the oral cavity | Väga sageli (80–99%) |
| Sinus disease | Väga sageli (80–99%) |
| Blocked tear duct | Sageli (30–79%) |
| Periorbital edema | Sageli (30–79%) |
| Recurrent colds | Sageli (30–79%) |
| Abnormal color of the oral mucosa | Mõnikord (5–29%) |
| Abnormality of salivation | Mõnikord (5–29%) |
| Abnormality of the eyelid | Mõnikord (5–29%) |
| Everted eyelid | Mõnikord (5–29%) |
| Inflammation of the lips | Mõnikord (5–29%) |
| Mouth sore | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Lung infiltrates | Väga sageli (80–99%) |
| Chronic pulmonary obstruction | Sageli (30–79%) |
| Cough | Sageli (30–79%) |
| Coughing up blood | Sageli (30–79%) |
| Pulmonary scarring | Sageli (30–79%) |
| Respiratory function loss | Sageli (30–79%) |
| Abnormal pleura morphology | Mõnikord (5–29%) |
| Inflammation of tissues lining lungs and chest | Mõnikord (5–29%) |
| Permanent enlargement of the airways of the lungs | Mõnikord (5–29%) |
| Spot on the lung | Mõnikord (5–29%) |
| Stiff lung or chest wall causing decreased lung volume | Mõnikord (5–29%) |
| Subglottic stenosis | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Anorexia | Väga sageli (80–99%) |
| Abdominal pain | Sageli (30–79%) |
| Diarrhea | Sageli (30–79%) |
| Enlarged liver | Sageli (30–79%) |
| Nausea and vomiting | Sageli (30–79%) |
| Atrophic gastritis | Mõnikord (5–29%) |
| Crohn's disease | Mõnikord (5–29%) |
| Inflammation of the large intestine | Mõnikord (5–29%) |
| Intestinal obstruction | Mõnikord (5–29%) |
| Lymphocytic infiltration of the colorectal mucosa | Mõnikord (5–29%) |
| Pancreatic inflammation | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Disruption of blood oxygen supply to brain | Väga sageli (80–99%) |
| Inflammation of blood vessel | Väga sageli (80–99%) |
| Redness of skin or mucous membrane | Väga sageli (80–99%) |
| Swollen lymph nodes | Väga sageli (80–99%) |
| High blood pressure | Sageli (30–79%) |
| Increased spleen size | Sageli (30–79%) |
| Raynaud phenomenon | Sageli (30–79%) |
| Abnormal heart rate | Mõnikord (5–29%) |
| Angina pectoris | Mõnikord (5–29%) |
| Swelling or irritation of membrane around heart | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Peripheral neuropathy | Sageli (30–79%) |
| Cranial nerve paralysis | Mõnikord (5–29%) |
| Damage to nerves that sense feeling | Mõnikord (5–29%) |
| Depression | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Headache | Mõnikord (5–29%) |
| Paralysis on one side of body | Mõnikord (5–29%) |
| Tremor | Mõnikord (5–29%) |
| Chorea | Harva (1–4%) |
| Grand mal seizures | Harva (1–4%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Blood in urine | Väga sageli (80–99%) |
| Fever | Väga sageli (80–99%) |
| High urine protein levels | Väga sageli (80–99%) |
| Elevated circulating C-reactive protein concentration | Sageli (30–79%) |
| High ESR | Sageli (30–79%) |
| High urine neutrophil count | Sageli (30–79%) |
| Fluid around lungs | Mõnikord (5–29%) |
| Fluid retention | Mõnikord (5–29%) |
| Hypothermia | Mõnikord (5–29%) |
| Type 1 diabetes | Mõnikord (5–29%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Väga sageli (80–99%) |
| Joint pain | Väga sageli (80–99%) |
| Malaise | Väga sageli (80–99%) |
| Chest pain | Sageli (30–79%) |
| Chills | Mõnikord (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Mõnikord (5–29%) |
| Muscle ache | Mõnikord (5–29%) |
| Shivering | Mõnikord (5–29%) |
| Night sweats | Harva (1–4%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Inflammation of the outer white part of the eye | Sageli (30–79%) |
| Inflammatory abnormality of the eye | Sageli (30–79%) |
| Bulging eye | Mõnikord (5–29%) |
| Corneal inflammation | Mõnikord (5–29%) |
| Noninflammatory retina disease | Mõnikord (5–29%) |
| Visual impairment | Mõnikord (5–29%) |
| Optic neuritis | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Glomerulopathy | Väga sageli (80–99%) |
| Glomerulonephritis | Sageli (30–79%) |
| Lupus nephritis | Sageli (30–79%) |
| Hydronephrosis | Mõnikord (5–29%) |
| Inflammation of the prostate | Mõnikord (5–29%) |
| Narrowing of the ureter | Mõnikord (5–29%) |
| Renal failure | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating antibody level | Väga sageli (80–99%) |
| Decreased circulating IgA concentration | Sageli (30–79%) |
| Decreased circulating IgG concentration | Sageli (30–79%) |
| Decreased circulating IgM concentration | Sageli (30–79%) |
| Abnormal circulating immunoglobulin concentration | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Middle ear infection | Väga sageli (80–99%) |
| Chronic infections of the middle ear | Mõnikord (5–29%) |
| Sensorineural hearing impairment | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the hypothalamus-pituitary axis | Sageli (30–79%) |
| Diabetes insipidus | Mõnikord (5–29%) |
| Thyroid gland inflammation | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Arthritis | Sageli (30–79%) |
| Polyarticular arthritis | Sageli (30–79%) |
| Muscle degeneration | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Weight loss | Väga sageli (80–99%) |
| Growth delay | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Thickening of palms and soles | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga CTLA4 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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