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PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su STAT4 susiję požymiai
signal transducer and activator of transcription 4
Žmogaus fenotipo ontologija sieja 191 požymį su STAT4: tai požymis, pastebimas 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 the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Migraine | Labai dažnai (80–99%) |
| Abnormal gait | Dažnai (30–79%) |
| Confusion | Dažnai (30–79%) |
| Headache | Dažnai (30–79%) |
| Weakness of one side of body | Dažnai (30–79%) |
| Abnormal pyramidal sign | Kartais (5–29%) |
| Abnormality of the nervous system | Kartais (5–29%) |
| Ataxia | Kartais (5–29%) |
| Behavioral abnormality | Kartais (5–29%) |
| Cranial nerve paralysis | Kartais (5–29%) |
| Depression | Kartais (5–29%) |
| Disturbances of consciousness | Kartais (5–29%) |
| Epilepsy | Kartais (5–29%) |
| Increased reflexes | Kartais (5–29%) |
| Irritability | Kartais (5–29%) |
| Loss of developmental milestones | Kartais (5–29%) |
| Memory impairment | Kartais (5–29%) |
| Paralysis on one side of body | Kartais (5–29%) |
| Pins and needles feeling | Kartais (5–29%) |
| Psychosis | Kartais (5–29%) |
| Rise in pressure inside skull | Kartais (5–29%) |
| Chorea | Retai (1–4 %) |
| Cognitive impairment | Retai (1–4 %) |
| Language impairment | Retai (1–4 %) |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inflammation of blood vessel | Labai dažnai (80–99%) |
| Fluid around heart | Dažnai (30–79%) |
| High blood pressure | Dažnai (30–79%) |
| Raynaud phenomenon | Dažnai (30–79%) |
| Swollen lymph nodes | Dažnai (30–79%) |
| Abnormal myocardium morphology | Kartais (5–29%) |
| Aortic regurgitation | Kartais (5–29%) |
| Blood clot in artery of lung | Kartais (5–29%) |
| Disruption of blood oxygen supply to brain | Kartais (5–29%) |
| Endocarditis | Kartais (5–29%) |
| Heart attack | Kartais (5–29%) |
| Increased spleen size | Kartais (5–29%) |
| Inflammation of heart muscle | Kartais (5–29%) |
| Mitral regurgitation | Kartais (5–29%) |
| Swelling or irritation of membrane around heart | Kartais (5–29%) |
| Enlarged liver and spleen | Retai (1–4 %) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Arthritis | Labai dažnai (80–99%) |
| Oligoarthritis | Labai dažnai (80–99%) |
| Double-Jointed | Dažnai (30–79%) |
| Enthesitis | Dažnai (30–79%) |
| Joint contracture | Dažnai (30–79%) |
| Joint stiffness | Dažnai (30–79%) |
| Polyarticular arthritis | Dažnai (30–79%) |
| Synovial lining hyperplasia | Dažnai (30–79%) |
| Synovitis | Dažnai (30–79%) |
| Abnormal cervical spine | Kartais (5–29%) |
| Abnormality of the shoulder | Kartais (5–29%) |
| Death of bone due to decreased blood supply | Kartais (5–29%) |
| Flexed joint that cannot be straightened | Kartais (5–29%) |
| Hip osteoarthritis | Kartais (5–29%) |
| Muscle weakness | Kartais (5–29%) |
| Rheumatoid arthritis | Kartais (5–29%) |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Extreme sensitivity of the eyes to light | Labai dažnai (80–99%) |
| Nongranulomatous uveitis | Dažnai (30–79%) |
| Panuveitis | Dažnai (30–79%) |
| Uveitis | Dažnai (30–79%) |
| Anterior chamber synechiae | Kartais (5–29%) |
| Band keratopathy | Kartais (5–29%) |
| Blindness | Kartais (5–29%) |
| Clouding of the lens of the eye | Kartais (5–29%) |
| Decreased clarity of vision | Kartais (5–29%) |
| Noninflammatory retina disease | Kartais (5–29%) |
| Optic neuritis | Kartais (5–29%) |
| Retrobulbar optic neuritis | Kartais (5–29%) |
| Visual loss | Kartais (5–29%) |
| Glaucoma | Retai (1–4 %) |
| Iridocyclitis | Retai (1–4 %) |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fever | Labai dažnai (80–99%) |
| High ESR | Labai dažnai (80–99%) |
| High urine protein levels | Labai dažnai (80–99%) |
| Blood in urine | Dažnai (30–79%) |
| Elevated circulating C-reactive protein concentration | Dažnai (30–79%) |
| Fluid around lungs | Dažnai (30–79%) |
| Fluid retention | Dažnai (30–79%) |
| High urine neutrophil count | Dažnai (30–79%) |
| Increased circulating lactate dehydrogenase concentration | Dažnai (30–79%) |
| Joint swelling | Dažnai (30–79%) |
| AA amyloidosis | Kartais (5–29%) |
| Dark urine | Kartais (5–29%) |
| Episodic fever | Kartais (5–29%) |
| Low-grade fever | Kartais (5–29%) |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Blood clot in vein | Dažnai (30–79%) |
| Decreased blood leukocyte number | Dažnai (30–79%) |
| Decreased blood lymphocyte number | Dažnai (30–79%) |
| Gastrointestinal bleeding | Dažnai (30–79%) |
| Low blood neutrophil count | Dažnai (30–79%) |
| Low platelet count | Dažnai (30–79%) |
| Microangiopathic hemolytic anemia | Dažnai (30–79%) |
| Superficial thrombophlebitis | Dažnai (30–79%) |
| Blood clot in artery | Kartais (5–29%) |
| Hemolytic anemia | Kartais (5–29%) |
| Low number of red blood cells or hemoglobin | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Anorexia | Labai dažnai (80–99%) |
| Nausea and vomiting | Labai dažnai (80–99%) |
| Abdominal pain | Dažnai (30–79%) |
| Abnormality of the gastrointestinal tract | Dažnai (30–79%) |
| Abdominal bloating | Kartais (5–29%) |
| Accumulation of fluid in the abdomen | Kartais (5–29%) |
| Malabsorption | Kartais (5–29%) |
| Pancreatic inflammation | Kartais (5–29%) |
| Vomiting | Kartais (5–29%) |
| Diarrhea | Retai (1–4 %) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Inflammation of testicles | Labai dažnai (80–99%) |
| Genital ulcers | Dažnai (30–79%) |
| Kidney inflammation | Dažnai (30–79%) |
| Lupus nephritis | Dažnai (30–79%) |
| Nephrotic syndrome | Dažnai (30–79%) |
| Renal failure | Dažnai (30–79%) |
| Urinary tract abnormalities | Dažnai (30–79%) |
| Epididymitis | Kartais (5–29%) |
| Glomerulopathy | Kartais (5–29%) |
| Glomerulonephritis | Retai (1–4 %) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Morphea | Visada |
| Open skin sore | Visada |
| Firm lump under the skin | Labai dažnai (80–99%) |
| Papule | Labai dažnai (80–99%) |
| Abnormal blistering of the skin | Dažnai (30–79%) |
| Abnormality of the skin | Dažnai (30–79%) |
| Hair loss | Dažnai (30–79%) |
| Positive pathergy test | Dažnai (30–79%) |
| Photosensitive skin | Kartais (5–29%) |
| Squamous cell carcinoma of the skin | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the ankle | Dažnai (30–79%) |
| Abnormality of the wrist | Dažnai (30–79%) |
| Ankle swelling | Dažnai (30–79%) |
| Knee osteoarthritis | Dažnai (30–79%) |
| Abnormality of the hand | Kartais (5–29%) |
| Abnormality of the hip joint | Kartais (5–29%) |
| Abnormality of the knuckle | Kartais (5–29%) |
| Abnormality of the long bone of foot | Kartais (5–29%) |
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Mouth sore | Visada |
| Recurrent canker sores | Labai dažnai (80–99%) |
| Abnormal color of the oral mucosa | Kartais (5–29%) |
| Abnormality of salivation | Kartais (5–29%) |
| Abnormality of the jaw joint | Kartais (5–29%) |
| Dry eye syndrome | Kartais (5–29%) |
| Inflammation of the lips | Kartais (5–29%) |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Fatigue | Labai dažnai (80–99%) |
| Malaise | Labai dažnai (80–99%) |
| Muscle ache | Labai dažnai (80–99%) |
| Joint pain | Dažnai (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Kartais (5–29%) |
| Chest pain | Retai (1–4 %) |
Abnormality of the respiratory system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the respiratory system | Kartais (5–29%) |
| Breathing difficulty | Kartais (5–29%) |
| Coughing up blood | Kartais (5–29%) |
| Inflammation of tissues lining lungs and chest | Kartais (5–29%) |
| Lung infiltrates | Kartais (5–29%) |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Weight loss | Labai dažnai (80–99%) |
| Faltering weight | Dažnai (30–79%) |
| Mild growth deficiency | Kartais (5–29%) |
| Severe growth delay in children | Kartais (5–29%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Dizziness | Kartais (5–29%) |
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 STAT4 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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