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