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Kenmerken
Kenmerken gekoppeld aan STAT4
signal transducer and activator of transcription 4
De Human Phenotype Ontology koppelt 191 kenmerken aan STAT4, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.
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Abnormality of the immune system
Abnormality of the nervous system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Migraine | Heel vaak (80–99%) |
| Abnormal gait | Vaak (30–79%) |
| Confusion | Vaak (30–79%) |
| Headache | Vaak (30–79%) |
| Weakness of one side of body | Vaak (30–79%) |
| Abnormal pyramidal sign | Soms (5–29%) |
| Abnormality of the nervous system | Soms (5–29%) |
| Ataxia | Soms (5–29%) |
| Behavioral abnormality | Soms (5–29%) |
| Cranial nerve paralysis | Soms (5–29%) |
| Depression | Soms (5–29%) |
| Disturbances of consciousness | Soms (5–29%) |
| Epilepsy | Soms (5–29%) |
| Increased reflexes | Soms (5–29%) |
| Irritability | Soms (5–29%) |
| Loss of developmental milestones | Soms (5–29%) |
| Memory impairment | Soms (5–29%) |
| Paralysis on one side of body | Soms (5–29%) |
| Pins and needles feeling | Soms (5–29%) |
| Psychosis | Soms (5–29%) |
| Rise in pressure inside skull | Soms (5–29%) |
| Chorea | Zelden (1–4%) |
| Cognitive impairment | Zelden (1–4%) |
| Language impairment | Zelden (1–4%) |
Abnormality of the cardiovascular system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of blood vessel | Heel vaak (80–99%) |
| Fluid around heart | Vaak (30–79%) |
| High blood pressure | Vaak (30–79%) |
| Raynaud phenomenon | Vaak (30–79%) |
| Swollen lymph nodes | Vaak (30–79%) |
| Abnormal myocardium morphology | Soms (5–29%) |
| Aortic regurgitation | Soms (5–29%) |
| Blood clot in artery of lung | Soms (5–29%) |
| Disruption of blood oxygen supply to brain | Soms (5–29%) |
| Endocarditis | Soms (5–29%) |
| Heart attack | Soms (5–29%) |
| Increased spleen size | Soms (5–29%) |
| Inflammation of heart muscle | Soms (5–29%) |
| Mitral regurgitation | Soms (5–29%) |
| Swelling or irritation of membrane around heart | Soms (5–29%) |
| Enlarged liver and spleen | Zelden (1–4%) |
Abnormality of the musculoskeletal system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Arthritis | Heel vaak (80–99%) |
| Oligoarthritis | Heel vaak (80–99%) |
| Double-Jointed | Vaak (30–79%) |
| Enthesitis | Vaak (30–79%) |
| Joint contracture | Vaak (30–79%) |
| Joint stiffness | Vaak (30–79%) |
| Polyarticular arthritis | Vaak (30–79%) |
| Synovial lining hyperplasia | Vaak (30–79%) |
| Synovitis | Vaak (30–79%) |
| Abnormal cervical spine | Soms (5–29%) |
| Abnormality of the shoulder | Soms (5–29%) |
| Death of bone due to decreased blood supply | Soms (5–29%) |
| Flexed joint that cannot be straightened | Soms (5–29%) |
| Hip osteoarthritis | Soms (5–29%) |
| Muscle weakness | Soms (5–29%) |
| Rheumatoid arthritis | Soms (5–29%) |
Abnormality of the eye
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Extreme sensitivity of the eyes to light | Heel vaak (80–99%) |
| Nongranulomatous uveitis | Vaak (30–79%) |
| Panuveitis | Vaak (30–79%) |
| Uveitis | Vaak (30–79%) |
| Anterior chamber synechiae | Soms (5–29%) |
| Band keratopathy | Soms (5–29%) |
| Blindness | Soms (5–29%) |
| Clouding of the lens of the eye | Soms (5–29%) |
| Decreased clarity of vision | Soms (5–29%) |
| Noninflammatory retina disease | Soms (5–29%) |
| Optic neuritis | Soms (5–29%) |
| Retrobulbar optic neuritis | Soms (5–29%) |
| Visual loss | Soms (5–29%) |
| Glaucoma | Zelden (1–4%) |
| Iridocyclitis | Zelden (1–4%) |
Laboratory abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Fever | Heel vaak (80–99%) |
| High ESR | Heel vaak (80–99%) |
| High urine protein levels | Heel vaak (80–99%) |
| Blood in urine | Vaak (30–79%) |
| Elevated circulating C-reactive protein concentration | Vaak (30–79%) |
| Fluid around lungs | Vaak (30–79%) |
| Fluid retention | Vaak (30–79%) |
| High urine neutrophil count | Vaak (30–79%) |
| Increased circulating lactate dehydrogenase concentration | Vaak (30–79%) |
| Joint swelling | Vaak (30–79%) |
| AA amyloidosis | Soms (5–29%) |
| Dark urine | Soms (5–29%) |
| Episodic fever | Soms (5–29%) |
| Low-grade fever | Soms (5–29%) |
Abnormality of blood and blood-forming tissues
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Blood clot in vein | Vaak (30–79%) |
| Decreased blood leukocyte number | Vaak (30–79%) |
| Decreased blood lymphocyte number | Vaak (30–79%) |
| Gastrointestinal bleeding | Vaak (30–79%) |
| Low blood neutrophil count | Vaak (30–79%) |
| Low platelet count | Vaak (30–79%) |
| Microangiopathic hemolytic anemia | Vaak (30–79%) |
| Superficial thrombophlebitis | Vaak (30–79%) |
| Blood clot in artery | Soms (5–29%) |
| Hemolytic anemia | Soms (5–29%) |
| Low number of red blood cells or hemoglobin | Soms (5–29%) |
Abnormality of the digestive system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Anorexia | Heel vaak (80–99%) |
| Nausea and vomiting | Heel vaak (80–99%) |
| Abdominal pain | Vaak (30–79%) |
| Abnormality of the gastrointestinal tract | Vaak (30–79%) |
| Abdominal bloating | Soms (5–29%) |
| Accumulation of fluid in the abdomen | Soms (5–29%) |
| Malabsorption | Soms (5–29%) |
| Pancreatic inflammation | Soms (5–29%) |
| Vomiting | Soms (5–29%) |
| Diarrhea | Zelden (1–4%) |
Abnormality of the genitourinary system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Inflammation of testicles | Heel vaak (80–99%) |
| Genital ulcers | Vaak (30–79%) |
| Kidney inflammation | Vaak (30–79%) |
| Lupus nephritis | Vaak (30–79%) |
| Nephrotic syndrome | Vaak (30–79%) |
| Renal failure | Vaak (30–79%) |
| Urinary tract abnormalities | Vaak (30–79%) |
| Epididymitis | Soms (5–29%) |
| Glomerulopathy | Soms (5–29%) |
| Glomerulonephritis | Zelden (1–4%) |
Abnormality of the integument
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Morphea | Altijd |
| Open skin sore | Altijd |
| Firm lump under the skin | Heel vaak (80–99%) |
| Papule | Heel vaak (80–99%) |
| Abnormal blistering of the skin | Vaak (30–79%) |
| Abnormality of the skin | Vaak (30–79%) |
| Hair loss | Vaak (30–79%) |
| Positive pathergy test | Vaak (30–79%) |
| Photosensitive skin | Soms (5–29%) |
| Squamous cell carcinoma of the skin | Soms (5–29%) |
Abnormality of limbs
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the ankle | Vaak (30–79%) |
| Abnormality of the wrist | Vaak (30–79%) |
| Ankle swelling | Vaak (30–79%) |
| Knee osteoarthritis | Vaak (30–79%) |
| Abnormality of the hand | Soms (5–29%) |
| Abnormality of the hip joint | Soms (5–29%) |
| Abnormality of the knuckle | Soms (5–29%) |
| Abnormality of the long bone of foot | Soms (5–29%) |
Abnormality of head or neck
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Mouth sore | Altijd |
| Recurrent canker sores | Heel vaak (80–99%) |
| Abnormal color of the oral mucosa | Soms (5–29%) |
| Abnormality of salivation | Soms (5–29%) |
| Abnormality of the jaw joint | Soms (5–29%) |
| Dry eye syndrome | Soms (5–29%) |
| Inflammation of the lips | Soms (5–29%) |
Constitutional symptom
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Fatigue | Heel vaak (80–99%) |
| Malaise | Heel vaak (80–99%) |
| Muscle ache | Heel vaak (80–99%) |
| Joint pain | Vaak (30–79%) |
| Death of body tissue due to lack of blood flow or infection | Soms (5–29%) |
| Chest pain | Zelden (1–4%) |
Abnormality of the respiratory system
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Abnormality of the respiratory system | Soms (5–29%) |
| Breathing difficulty | Soms (5–29%) |
| Coughing up blood | Soms (5–29%) |
| Inflammation of tissues lining lungs and chest | Soms (5–29%) |
| Lung infiltrates | Soms (5–29%) |
Growth abnormality
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Weight loss | Heel vaak (80–99%) |
| Faltering weight | Vaak (30–79%) |
| Mild growth deficiency | Soms (5–29%) |
| Severe growth delay in children | Soms (5–29%) |
Abnormality of the ear
| Kenmerk | Hoe vaak het voorkomt |
|---|---|
| Dizziness | Soms (5–29%) |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Waar dit vandaan komt
- De Human Phenotype Ontology, versie 2026-09-01: de aan STAT4 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.
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