Kjennetegn

Kjennetegn knyttet til STAT4

signal transducer and activator of transcription 4

Human Phenotype Ontology knytter 191 kjennetegn til STAT4, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

STAT4

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Antinuclear antibody positivity	Svært ofte (80–99 %)
Decreased circulating complement C3 concentration	Svært ofte (80–99 %)
Decreased circulating complement C4 concentration	Svært ofte (80–99 %)
Meningitis	Svært ofte (80–99 %)
Abnormal circulating interleukin concentration	Ofte (30–79 %)
Acne	Ofte (30–79 %)
Anti-complement component C1q antibody positivity	Ofte (30–79 %)
Anti-ribosome Po antibody positivity	Ofte (30–79 %)
Anti-titin antibody positivity	Ofte (30–79 %)
Antineutrophil antibody positivity	Ofte (30–79 %)
Antiphospholipid antibody positivity	Ofte (30–79 %)
Autoimmunity	Ofte (30–79 %)
Erythema nodosum	Ofte (30–79 %)
Immunologic hypersensitivity	Ofte (30–79 %)
Increased circulating interferon-gamma concentration	Ofte (30–79 %)
Increased inflammatory response	Ofte (30–79 %)
Malar rash	Ofte (30–79 %)
Pimple	Ofte (30–79 %)
Recurrent infections	Ofte (30–79 %)
Skin rash	Ofte (30–79 %)
Anti-dsDNA antibody positivity	Noen ganger (5–29 %)
Anti-La/SS-B antibody positivity	Noen ganger (5–29 %)
Anti-nucleoporin 62 antibody positivity	Noen ganger (5–29 %)
Anti-phosphatidic acid antibody positivity	Noen ganger (5–29 %)
Anti-Ro52/TRIM21 antibody positivity	Noen ganger (5–29 %)
Anti-Sm antibody positivity	Noen ganger (5–29 %)
Anti-U1 ribonucleoprotein antibody positivity	Noen ganger (5–29 %)
Brain inflammation	Noen ganger (5–29 %)
Discoid lupus rash	Noen ganger (5–29 %)
Lupus anticoagulant	Noen ganger (5–29 %)
Muscle inflammation	Noen ganger (5–29 %)
Non-infectious meningitis	Noen ganger (5–29 %)
Serositis	Noen ganger (5–29 %)
Systemic lupus erythematosus	Noen ganger (5–29 %)

Abnormality of the nervous system

Kjennetegn	Hvor ofte den forekommer
Migraine	Svært ofte (80–99 %)
Abnormal gait	Ofte (30–79 %)
Confusion	Ofte (30–79 %)
Headache	Ofte (30–79 %)
Weakness of one side of body	Ofte (30–79 %)
Abnormal pyramidal sign	Noen ganger (5–29 %)
Abnormality of the nervous system	Noen ganger (5–29 %)
Ataxia	Noen ganger (5–29 %)
Behavioral abnormality	Noen ganger (5–29 %)
Cranial nerve paralysis	Noen ganger (5–29 %)
Depression	Noen ganger (5–29 %)
Disturbances of consciousness	Noen ganger (5–29 %)
Epilepsy	Noen ganger (5–29 %)
Increased reflexes	Noen ganger (5–29 %)
Irritability	Noen ganger (5–29 %)
Loss of developmental milestones	Noen ganger (5–29 %)
Memory impairment	Noen ganger (5–29 %)
Paralysis on one side of body	Noen ganger (5–29 %)
Pins and needles feeling	Noen ganger (5–29 %)
Psychosis	Noen ganger (5–29 %)
Rise in pressure inside skull	Noen ganger (5–29 %)
Chorea	Sjelden (1–4%)
Cognitive impairment	Sjelden (1–4%)
Language impairment	Sjelden (1–4%)

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Inflammation of blood vessel	Svært ofte (80–99 %)
Fluid around heart	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Raynaud phenomenon	Ofte (30–79 %)
Swollen lymph nodes	Ofte (30–79 %)
Abnormal myocardium morphology	Noen ganger (5–29 %)
Aortic regurgitation	Noen ganger (5–29 %)
Blood clot in artery of lung	Noen ganger (5–29 %)
Disruption of blood oxygen supply to brain	Noen ganger (5–29 %)
Endocarditis	Noen ganger (5–29 %)
Heart attack	Noen ganger (5–29 %)
Increased spleen size	Noen ganger (5–29 %)
Inflammation of heart muscle	Noen ganger (5–29 %)
Mitral regurgitation	Noen ganger (5–29 %)
Swelling or irritation of membrane around heart	Noen ganger (5–29 %)
Enlarged liver and spleen	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Arthritis	Svært ofte (80–99 %)
Oligoarthritis	Svært ofte (80–99 %)
Double-Jointed	Ofte (30–79 %)
Enthesitis	Ofte (30–79 %)
Joint contracture	Ofte (30–79 %)
Joint stiffness	Ofte (30–79 %)
Polyarticular arthritis	Ofte (30–79 %)
Synovial lining hyperplasia	Ofte (30–79 %)
Synovitis	Ofte (30–79 %)
Abnormal cervical spine	Noen ganger (5–29 %)
Abnormality of the shoulder	Noen ganger (5–29 %)
Death of bone due to decreased blood supply	Noen ganger (5–29 %)
Flexed joint that cannot be straightened	Noen ganger (5–29 %)
Hip osteoarthritis	Noen ganger (5–29 %)
Muscle weakness	Noen ganger (5–29 %)
Rheumatoid arthritis	Noen ganger (5–29 %)

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Extreme sensitivity of the eyes to light	Svært ofte (80–99 %)
Nongranulomatous uveitis	Ofte (30–79 %)
Panuveitis	Ofte (30–79 %)
Uveitis	Ofte (30–79 %)
Anterior chamber synechiae	Noen ganger (5–29 %)
Band keratopathy	Noen ganger (5–29 %)
Blindness	Noen ganger (5–29 %)
Clouding of the lens of the eye	Noen ganger (5–29 %)
Decreased clarity of vision	Noen ganger (5–29 %)
Noninflammatory retina disease	Noen ganger (5–29 %)
Optic neuritis	Noen ganger (5–29 %)
Retrobulbar optic neuritis	Noen ganger (5–29 %)
Visual loss	Noen ganger (5–29 %)
Glaucoma	Sjelden (1–4%)
Iridocyclitis	Sjelden (1–4%)

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
Fever	Svært ofte (80–99 %)
High ESR	Svært ofte (80–99 %)
High urine protein levels	Svært ofte (80–99 %)
Blood in urine	Ofte (30–79 %)
Elevated circulating C-reactive protein concentration	Ofte (30–79 %)
Fluid around lungs	Ofte (30–79 %)
Fluid retention	Ofte (30–79 %)
High urine neutrophil count	Ofte (30–79 %)
Increased circulating lactate dehydrogenase concentration	Ofte (30–79 %)
Joint swelling	Ofte (30–79 %)
AA amyloidosis	Noen ganger (5–29 %)
Dark urine	Noen ganger (5–29 %)
Episodic fever	Noen ganger (5–29 %)
Low-grade fever	Noen ganger (5–29 %)

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Blood clot in vein	Ofte (30–79 %)
Decreased blood leukocyte number	Ofte (30–79 %)
Decreased blood lymphocyte number	Ofte (30–79 %)
Gastrointestinal bleeding	Ofte (30–79 %)
Low blood neutrophil count	Ofte (30–79 %)
Low platelet count	Ofte (30–79 %)
Microangiopathic hemolytic anemia	Ofte (30–79 %)
Superficial thrombophlebitis	Ofte (30–79 %)
Blood clot in artery	Noen ganger (5–29 %)
Hemolytic anemia	Noen ganger (5–29 %)
Low number of red blood cells or hemoglobin	Noen ganger (5–29 %)

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Anorexia	Svært ofte (80–99 %)
Nausea and vomiting	Svært ofte (80–99 %)
Abdominal pain	Ofte (30–79 %)
Abnormality of the gastrointestinal tract	Ofte (30–79 %)
Abdominal bloating	Noen ganger (5–29 %)
Accumulation of fluid in the abdomen	Noen ganger (5–29 %)
Malabsorption	Noen ganger (5–29 %)
Pancreatic inflammation	Noen ganger (5–29 %)
Vomiting	Noen ganger (5–29 %)
Diarrhea	Sjelden (1–4%)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Inflammation of testicles	Svært ofte (80–99 %)
Genital ulcers	Ofte (30–79 %)
Kidney inflammation	Ofte (30–79 %)
Lupus nephritis	Ofte (30–79 %)
Nephrotic syndrome	Ofte (30–79 %)
Renal failure	Ofte (30–79 %)
Urinary tract abnormalities	Ofte (30–79 %)
Epididymitis	Noen ganger (5–29 %)
Glomerulopathy	Noen ganger (5–29 %)
Glomerulonephritis	Sjelden (1–4%)

Abnormality of the integument

Kjennetegn	Hvor ofte den forekommer
Morphea	Alltid
Open skin sore	Alltid
Firm lump under the skin	Svært ofte (80–99 %)
Papule	Svært ofte (80–99 %)
Abnormal blistering of the skin	Ofte (30–79 %)
Abnormality of the skin	Ofte (30–79 %)
Hair loss	Ofte (30–79 %)
Positive pathergy test	Ofte (30–79 %)
Photosensitive skin	Noen ganger (5–29 %)
Squamous cell carcinoma of the skin	Noen ganger (5–29 %)

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Abnormality of the ankle	Ofte (30–79 %)
Abnormality of the wrist	Ofte (30–79 %)
Ankle swelling	Ofte (30–79 %)
Knee osteoarthritis	Ofte (30–79 %)
Abnormality of the hand	Noen ganger (5–29 %)
Abnormality of the hip joint	Noen ganger (5–29 %)
Abnormality of the knuckle	Noen ganger (5–29 %)
Abnormality of the long bone of foot	Noen ganger (5–29 %)

Abnormality of head or neck

Kjennetegn	Hvor ofte den forekommer
Mouth sore	Alltid
Recurrent canker sores	Svært ofte (80–99 %)
Abnormal color of the oral mucosa	Noen ganger (5–29 %)
Abnormality of salivation	Noen ganger (5–29 %)
Abnormality of the jaw joint	Noen ganger (5–29 %)
Dry eye syndrome	Noen ganger (5–29 %)
Inflammation of the lips	Noen ganger (5–29 %)

Constitutional symptom

Kjennetegn	Hvor ofte den forekommer
Fatigue	Svært ofte (80–99 %)
Malaise	Svært ofte (80–99 %)
Muscle ache	Svært ofte (80–99 %)
Joint pain	Ofte (30–79 %)
Death of body tissue due to lack of blood flow or infection	Noen ganger (5–29 %)
Chest pain	Sjelden (1–4%)

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the respiratory system	Noen ganger (5–29 %)
Breathing difficulty	Noen ganger (5–29 %)
Coughing up blood	Noen ganger (5–29 %)
Inflammation of tissues lining lungs and chest	Noen ganger (5–29 %)
Lung infiltrates	Noen ganger (5–29 %)

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Weight loss	Svært ofte (80–99 %)
Faltering weight	Ofte (30–79 %)
Mild growth deficiency	Noen ganger (5–29 %)
Severe growth delay in children	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Dizziness	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til STAT4 og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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