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Egenskaper
Egenskaper kopplade till STAT4
signal transducer and activator of transcription 4
Human Phenotype Ontology kopplar 191 egenskaper till STAT4, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.
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Abnormality of the immune system
Abnormality of the nervous system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Migraine | Mycket ofta (80–99 %) |
| Abnormal gait | Ofta (30–79 %) |
| Confusion | Ofta (30–79 %) |
| Headache | Ofta (30–79 %) |
| Weakness of one side of body | Ofta (30–79 %) |
| Abnormal pyramidal sign | Ibland (5–29 %) |
| Abnormality of the nervous system | Ibland (5–29 %) |
| Ataxia | Ibland (5–29 %) |
| Behavioral abnormality | Ibland (5–29 %) |
| Cranial nerve paralysis | Ibland (5–29 %) |
| Depression | Ibland (5–29 %) |
| Disturbances of consciousness | Ibland (5–29 %) |
| Epilepsy | Ibland (5–29 %) |
| Increased reflexes | Ibland (5–29 %) |
| Irritability | Ibland (5–29 %) |
| Loss of developmental milestones | Ibland (5–29 %) |
| Memory impairment | Ibland (5–29 %) |
| Paralysis on one side of body | Ibland (5–29 %) |
| Pins and needles feeling | Ibland (5–29 %) |
| Psychosis | Ibland (5–29 %) |
| Rise in pressure inside skull | Ibland (5–29 %) |
| Chorea | Sällan (1–4%) |
| Cognitive impairment | Sällan (1–4%) |
| Language impairment | Sällan (1–4%) |
Abnormality of the cardiovascular system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Inflammation of blood vessel | Mycket ofta (80–99 %) |
| Fluid around heart | Ofta (30–79 %) |
| High blood pressure | Ofta (30–79 %) |
| Raynaud phenomenon | Ofta (30–79 %) |
| Swollen lymph nodes | Ofta (30–79 %) |
| Abnormal myocardium morphology | Ibland (5–29 %) |
| Aortic regurgitation | Ibland (5–29 %) |
| Blood clot in artery of lung | Ibland (5–29 %) |
| Disruption of blood oxygen supply to brain | Ibland (5–29 %) |
| Endocarditis | Ibland (5–29 %) |
| Heart attack | Ibland (5–29 %) |
| Increased spleen size | Ibland (5–29 %) |
| Inflammation of heart muscle | Ibland (5–29 %) |
| Mitral regurgitation | Ibland (5–29 %) |
| Swelling or irritation of membrane around heart | Ibland (5–29 %) |
| Enlarged liver and spleen | Sällan (1–4%) |
Abnormality of the musculoskeletal system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Arthritis | Mycket ofta (80–99 %) |
| Oligoarthritis | Mycket ofta (80–99 %) |
| Double-Jointed | Ofta (30–79 %) |
| Enthesitis | Ofta (30–79 %) |
| Joint contracture | Ofta (30–79 %) |
| Joint stiffness | Ofta (30–79 %) |
| Polyarticular arthritis | Ofta (30–79 %) |
| Synovial lining hyperplasia | Ofta (30–79 %) |
| Synovitis | Ofta (30–79 %) |
| Abnormal cervical spine | Ibland (5–29 %) |
| Abnormality of the shoulder | Ibland (5–29 %) |
| Death of bone due to decreased blood supply | Ibland (5–29 %) |
| Flexed joint that cannot be straightened | Ibland (5–29 %) |
| Hip osteoarthritis | Ibland (5–29 %) |
| Muscle weakness | Ibland (5–29 %) |
| Rheumatoid arthritis | Ibland (5–29 %) |
Abnormality of the eye
| Egenskap | Hur ofta den förekommer |
|---|---|
| Extreme sensitivity of the eyes to light | Mycket ofta (80–99 %) |
| Nongranulomatous uveitis | Ofta (30–79 %) |
| Panuveitis | Ofta (30–79 %) |
| Uveitis | Ofta (30–79 %) |
| Anterior chamber synechiae | Ibland (5–29 %) |
| Band keratopathy | Ibland (5–29 %) |
| Blindness | Ibland (5–29 %) |
| Clouding of the lens of the eye | Ibland (5–29 %) |
| Decreased clarity of vision | Ibland (5–29 %) |
| Noninflammatory retina disease | Ibland (5–29 %) |
| Optic neuritis | Ibland (5–29 %) |
| Retrobulbar optic neuritis | Ibland (5–29 %) |
| Visual loss | Ibland (5–29 %) |
| Glaucoma | Sällan (1–4%) |
| Iridocyclitis | Sällan (1–4%) |
Laboratory abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Fever | Mycket ofta (80–99 %) |
| High ESR | Mycket ofta (80–99 %) |
| High urine protein levels | Mycket ofta (80–99 %) |
| Blood in urine | Ofta (30–79 %) |
| Elevated circulating C-reactive protein concentration | Ofta (30–79 %) |
| Fluid around lungs | Ofta (30–79 %) |
| Fluid retention | Ofta (30–79 %) |
| High urine neutrophil count | Ofta (30–79 %) |
| Increased circulating lactate dehydrogenase concentration | Ofta (30–79 %) |
| Joint swelling | Ofta (30–79 %) |
| AA amyloidosis | Ibland (5–29 %) |
| Dark urine | Ibland (5–29 %) |
| Episodic fever | Ibland (5–29 %) |
| Low-grade fever | Ibland (5–29 %) |
Abnormality of blood and blood-forming tissues
| Egenskap | Hur ofta den förekommer |
|---|---|
| Blood clot in vein | Ofta (30–79 %) |
| Decreased blood leukocyte number | Ofta (30–79 %) |
| Decreased blood lymphocyte number | Ofta (30–79 %) |
| Gastrointestinal bleeding | Ofta (30–79 %) |
| Low blood neutrophil count | Ofta (30–79 %) |
| Low platelet count | Ofta (30–79 %) |
| Microangiopathic hemolytic anemia | Ofta (30–79 %) |
| Superficial thrombophlebitis | Ofta (30–79 %) |
| Blood clot in artery | Ibland (5–29 %) |
| Hemolytic anemia | Ibland (5–29 %) |
| Low number of red blood cells or hemoglobin | Ibland (5–29 %) |
Abnormality of the digestive system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Anorexia | Mycket ofta (80–99 %) |
| Nausea and vomiting | Mycket ofta (80–99 %) |
| Abdominal pain | Ofta (30–79 %) |
| Abnormality of the gastrointestinal tract | Ofta (30–79 %) |
| Abdominal bloating | Ibland (5–29 %) |
| Accumulation of fluid in the abdomen | Ibland (5–29 %) |
| Malabsorption | Ibland (5–29 %) |
| Pancreatic inflammation | Ibland (5–29 %) |
| Vomiting | Ibland (5–29 %) |
| Diarrhea | Sällan (1–4%) |
Abnormality of the genitourinary system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Inflammation of testicles | Mycket ofta (80–99 %) |
| Genital ulcers | Ofta (30–79 %) |
| Kidney inflammation | Ofta (30–79 %) |
| Lupus nephritis | Ofta (30–79 %) |
| Nephrotic syndrome | Ofta (30–79 %) |
| Renal failure | Ofta (30–79 %) |
| Urinary tract abnormalities | Ofta (30–79 %) |
| Epididymitis | Ibland (5–29 %) |
| Glomerulopathy | Ibland (5–29 %) |
| Glomerulonephritis | Sällan (1–4%) |
Abnormality of the integument
| Egenskap | Hur ofta den förekommer |
|---|---|
| Morphea | Alltid |
| Open skin sore | Alltid |
| Firm lump under the skin | Mycket ofta (80–99 %) |
| Papule | Mycket ofta (80–99 %) |
| Abnormal blistering of the skin | Ofta (30–79 %) |
| Abnormality of the skin | Ofta (30–79 %) |
| Hair loss | Ofta (30–79 %) |
| Positive pathergy test | Ofta (30–79 %) |
| Photosensitive skin | Ibland (5–29 %) |
| Squamous cell carcinoma of the skin | Ibland (5–29 %) |
Abnormality of limbs
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormality of the ankle | Ofta (30–79 %) |
| Abnormality of the wrist | Ofta (30–79 %) |
| Ankle swelling | Ofta (30–79 %) |
| Knee osteoarthritis | Ofta (30–79 %) |
| Abnormality of the hand | Ibland (5–29 %) |
| Abnormality of the hip joint | Ibland (5–29 %) |
| Abnormality of the knuckle | Ibland (5–29 %) |
| Abnormality of the long bone of foot | Ibland (5–29 %) |
Abnormality of head or neck
| Egenskap | Hur ofta den förekommer |
|---|---|
| Mouth sore | Alltid |
| Recurrent canker sores | Mycket ofta (80–99 %) |
| Abnormal color of the oral mucosa | Ibland (5–29 %) |
| Abnormality of salivation | Ibland (5–29 %) |
| Abnormality of the jaw joint | Ibland (5–29 %) |
| Dry eye syndrome | Ibland (5–29 %) |
| Inflammation of the lips | Ibland (5–29 %) |
Constitutional symptom
| Egenskap | Hur ofta den förekommer |
|---|---|
| Fatigue | Mycket ofta (80–99 %) |
| Malaise | Mycket ofta (80–99 %) |
| Muscle ache | Mycket ofta (80–99 %) |
| Joint pain | Ofta (30–79 %) |
| Death of body tissue due to lack of blood flow or infection | Ibland (5–29 %) |
| Chest pain | Sällan (1–4%) |
Abnormality of the respiratory system
| Egenskap | Hur ofta den förekommer |
|---|---|
| Abnormality of the respiratory system | Ibland (5–29 %) |
| Breathing difficulty | Ibland (5–29 %) |
| Coughing up blood | Ibland (5–29 %) |
| Inflammation of tissues lining lungs and chest | Ibland (5–29 %) |
| Lung infiltrates | Ibland (5–29 %) |
Growth abnormality
| Egenskap | Hur ofta den förekommer |
|---|---|
| Weight loss | Mycket ofta (80–99 %) |
| Faltering weight | Ofta (30–79 %) |
| Mild growth deficiency | Ibland (5–29 %) |
| Severe growth delay in children | Ibland (5–29 %) |
Abnormality of the ear
| Egenskap | Hur ofta den förekommer |
|---|---|
| Dizziness | Ibland (5–29 %) |
Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.
Varifrån informationen kommer
- Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till STAT4 och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.
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