Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu STAT4
signal transducer and activator of transcription 4
Human Phenotype Ontology asociază 191 trăsături cu STAT4, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the immune system
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Migraine | Foarte des (80–99%) |
| Abnormal gait | Des (30–79%) |
| Confusion | Des (30–79%) |
| Headache | Des (30–79%) |
| Weakness of one side of body | Des (30–79%) |
| Abnormal pyramidal sign | Uneori (5–29%) |
| Abnormality of the nervous system | Uneori (5–29%) |
| Ataxia | Uneori (5–29%) |
| Behavioral abnormality | Uneori (5–29%) |
| Cranial nerve paralysis | Uneori (5–29%) |
| Depression | Uneori (5–29%) |
| Disturbances of consciousness | Uneori (5–29%) |
| Epilepsy | Uneori (5–29%) |
| Increased reflexes | Uneori (5–29%) |
| Irritability | Uneori (5–29%) |
| Loss of developmental milestones | Uneori (5–29%) |
| Memory impairment | Uneori (5–29%) |
| Paralysis on one side of body | Uneori (5–29%) |
| Pins and needles feeling | Uneori (5–29%) |
| Psychosis | Uneori (5–29%) |
| Rise in pressure inside skull | Uneori (5–29%) |
| Chorea | Rar (1–4%) |
| Cognitive impairment | Rar (1–4%) |
| Language impairment | Rar (1–4%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of blood vessel | Foarte des (80–99%) |
| Fluid around heart | Des (30–79%) |
| High blood pressure | Des (30–79%) |
| Raynaud phenomenon | Des (30–79%) |
| Swollen lymph nodes | Des (30–79%) |
| Abnormal myocardium morphology | Uneori (5–29%) |
| Aortic regurgitation | Uneori (5–29%) |
| Blood clot in artery of lung | Uneori (5–29%) |
| Disruption of blood oxygen supply to brain | Uneori (5–29%) |
| Endocarditis | Uneori (5–29%) |
| Heart attack | Uneori (5–29%) |
| Increased spleen size | Uneori (5–29%) |
| Inflammation of heart muscle | Uneori (5–29%) |
| Mitral regurgitation | Uneori (5–29%) |
| Swelling or irritation of membrane around heart | Uneori (5–29%) |
| Enlarged liver and spleen | Rar (1–4%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Arthritis | Foarte des (80–99%) |
| Oligoarthritis | Foarte des (80–99%) |
| Double-Jointed | Des (30–79%) |
| Enthesitis | Des (30–79%) |
| Joint contracture | Des (30–79%) |
| Joint stiffness | Des (30–79%) |
| Polyarticular arthritis | Des (30–79%) |
| Synovial lining hyperplasia | Des (30–79%) |
| Synovitis | Des (30–79%) |
| Abnormal cervical spine | Uneori (5–29%) |
| Abnormality of the shoulder | Uneori (5–29%) |
| Death of bone due to decreased blood supply | Uneori (5–29%) |
| Flexed joint that cannot be straightened | Uneori (5–29%) |
| Hip osteoarthritis | Uneori (5–29%) |
| Muscle weakness | Uneori (5–29%) |
| Rheumatoid arthritis | Uneori (5–29%) |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Extreme sensitivity of the eyes to light | Foarte des (80–99%) |
| Nongranulomatous uveitis | Des (30–79%) |
| Panuveitis | Des (30–79%) |
| Uveitis | Des (30–79%) |
| Anterior chamber synechiae | Uneori (5–29%) |
| Band keratopathy | Uneori (5–29%) |
| Blindness | Uneori (5–29%) |
| Clouding of the lens of the eye | Uneori (5–29%) |
| Decreased clarity of vision | Uneori (5–29%) |
| Noninflammatory retina disease | Uneori (5–29%) |
| Optic neuritis | Uneori (5–29%) |
| Retrobulbar optic neuritis | Uneori (5–29%) |
| Visual loss | Uneori (5–29%) |
| Glaucoma | Rar (1–4%) |
| Iridocyclitis | Rar (1–4%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Fever | Foarte des (80–99%) |
| High ESR | Foarte des (80–99%) |
| High urine protein levels | Foarte des (80–99%) |
| Blood in urine | Des (30–79%) |
| Elevated circulating C-reactive protein concentration | Des (30–79%) |
| Fluid around lungs | Des (30–79%) |
| Fluid retention | Des (30–79%) |
| High urine neutrophil count | Des (30–79%) |
| Increased circulating lactate dehydrogenase concentration | Des (30–79%) |
| Joint swelling | Des (30–79%) |
| AA amyloidosis | Uneori (5–29%) |
| Dark urine | Uneori (5–29%) |
| Episodic fever | Uneori (5–29%) |
| Low-grade fever | Uneori (5–29%) |
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Blood clot in vein | Des (30–79%) |
| Decreased blood leukocyte number | Des (30–79%) |
| Decreased blood lymphocyte number | Des (30–79%) |
| Gastrointestinal bleeding | Des (30–79%) |
| Low blood neutrophil count | Des (30–79%) |
| Low platelet count | Des (30–79%) |
| Microangiopathic hemolytic anemia | Des (30–79%) |
| Superficial thrombophlebitis | Des (30–79%) |
| Blood clot in artery | Uneori (5–29%) |
| Hemolytic anemia | Uneori (5–29%) |
| Low number of red blood cells or hemoglobin | Uneori (5–29%) |
Abnormality of the digestive system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Anorexia | Foarte des (80–99%) |
| Nausea and vomiting | Foarte des (80–99%) |
| Abdominal pain | Des (30–79%) |
| Abnormality of the gastrointestinal tract | Des (30–79%) |
| Abdominal bloating | Uneori (5–29%) |
| Accumulation of fluid in the abdomen | Uneori (5–29%) |
| Malabsorption | Uneori (5–29%) |
| Pancreatic inflammation | Uneori (5–29%) |
| Vomiting | Uneori (5–29%) |
| Diarrhea | Rar (1–4%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Inflammation of testicles | Foarte des (80–99%) |
| Genital ulcers | Des (30–79%) |
| Kidney inflammation | Des (30–79%) |
| Lupus nephritis | Des (30–79%) |
| Nephrotic syndrome | Des (30–79%) |
| Renal failure | Des (30–79%) |
| Urinary tract abnormalities | Des (30–79%) |
| Epididymitis | Uneori (5–29%) |
| Glomerulopathy | Uneori (5–29%) |
| Glomerulonephritis | Rar (1–4%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Morphea | Întotdeauna |
| Open skin sore | Întotdeauna |
| Firm lump under the skin | Foarte des (80–99%) |
| Papule | Foarte des (80–99%) |
| Abnormal blistering of the skin | Des (30–79%) |
| Abnormality of the skin | Des (30–79%) |
| Hair loss | Des (30–79%) |
| Positive pathergy test | Des (30–79%) |
| Photosensitive skin | Uneori (5–29%) |
| Squamous cell carcinoma of the skin | Uneori (5–29%) |
Abnormality of limbs
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the ankle | Des (30–79%) |
| Abnormality of the wrist | Des (30–79%) |
| Ankle swelling | Des (30–79%) |
| Knee osteoarthritis | Des (30–79%) |
| Abnormality of the hand | Uneori (5–29%) |
| Abnormality of the hip joint | Uneori (5–29%) |
| Abnormality of the knuckle | Uneori (5–29%) |
| Abnormality of the long bone of foot | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Mouth sore | Întotdeauna |
| Recurrent canker sores | Foarte des (80–99%) |
| Abnormal color of the oral mucosa | Uneori (5–29%) |
| Abnormality of salivation | Uneori (5–29%) |
| Abnormality of the jaw joint | Uneori (5–29%) |
| Dry eye syndrome | Uneori (5–29%) |
| Inflammation of the lips | Uneori (5–29%) |
Constitutional symptom
| Trăsătură | Cât de frecvent apare |
|---|---|
| Fatigue | Foarte des (80–99%) |
| Malaise | Foarte des (80–99%) |
| Muscle ache | Foarte des (80–99%) |
| Joint pain | Des (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Uneori (5–29%) |
| Chest pain | Rar (1–4%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormality of the respiratory system | Uneori (5–29%) |
| Breathing difficulty | Uneori (5–29%) |
| Coughing up blood | Uneori (5–29%) |
| Inflammation of tissues lining lungs and chest | Uneori (5–29%) |
| Lung infiltrates | Uneori (5–29%) |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Weight loss | Foarte des (80–99%) |
| Faltering weight | Des (30–79%) |
| Mild growth deficiency | Uneori (5–29%) |
| Severe growth delay in children | Uneori (5–29%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dizziness | Uneori (5–29%) |
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 STAT4 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
Cui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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