Požymiai

Su STAT3 susiję požymiai

signal transducer and activator of transcription 3

Žmogaus fenotipo ontologija sieja 172 požymių su STAT3, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Reduced pancreatic beta cells	Labai dažnai (80–99%)
Abnormality of the intestine	Dažnai (30–79%)
Acid reflux	Dažnai (30–79%)
Anorexia	Dažnai (30–79%)
Celiac disease	Dažnai (30–79%)
Eosinophilic infiltration in the stomach mucosa	Dažnai (30–79%)
Eosinophilic infiltration of the esophagus	Dažnai (30–79%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Dažnai (30–79%)
Poor swallowing	Dažnai (30–79%)
Abdominal pain	Kartais (5–29%)
Achalasia	Kartais (5–29%)
Candida esophagitis	Kartais (5–29%)
Constipation	Kartais (5–29%)
Diarrhea	Kartais (5–29%)
Duodenal ulcer	Kartais (5–29%)
Esophageal diverticulum	Kartais (5–29%)
Esophageal food impaction	Kartais (5–29%)
Esophagus ulcer	Kartais (5–29%)
Feeling full quickly when eating	Kartais (5–29%)
Increased hepatic echogenicity	Kartais (5–29%)
Intestinal perforation	Kartais (5–29%)
Narrowing of esophagus due to inflammation and scar tissue	Kartais (5–29%)
Nausea	Kartais (5–29%)
Painful swallowing	Kartais (5–29%)
Stomach ulcer	Kartais (5–29%)
Underdeveloped pancreas	Kartais (5–29%)
Colonic diverticula	Retai (1–4 %)
Esophageal furrows	Retai (1–4 %)
Rectum protrudes through anus	Retai (1–4 %)

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Autoimmune hemolytic anemia	Labai dažnai (80–99%)
Autoimmune neutropenia	Dažnai (30–79%)
Autoimmune thrombocytopenia	Dažnai (30–79%)
Bleeding gums	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Blood spots	Dažnai (30–79%)
Bloody nose	Dažnai (30–79%)
Bone marrow hypercellularity	Dažnai (30–79%)
Bruising susceptibility	Dažnai (30–79%)
Decreased blood leukocyte number	Dažnai (30–79%)
Disseminated intravascular coagulation	Dažnai (30–79%)
Ecchymosis	Dažnai (30–79%)
High blood eosinophil count	Dažnai (30–79%)
Low blood cell count	Dažnai (30–79%)
Low number of red blood cells or hemoglobin	Dažnai (30–79%)
Low platelet count	Dažnai (30–79%)
Petechiae	Dažnai (30–79%)
Cancer of lymphatic system	Kartais (5–29%)
Diffuse alveolar hemorrhage	Kartais (5–29%)
Elevated white blood count	Kartais (5–29%)
Hodgkin lymphoma	Kartais (5–29%)
Hypofibrinogenemia	Kartais (5–29%)
Low blood neutrophil count	Kartais (5–29%)
Oral cavity bleeding	Kartais (5–29%)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Wide nose	Visada
Abnormal dentition	Dažnai (30–79%)
Abnormality of the face	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Chronic oral thrush	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Delayed eruption of teeth	Dažnai (30–79%)
Delayed loss of baby teeth	Dažnai (30–79%)
Dentinogenesis imperfecta	Dažnai (30–79%)
Downturned corners of mouth	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Fatty deposits in skin around the eyes	Dažnai (30–79%)
High palate	Dažnai (30–79%)
Inflamed gums	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Prominent metopic ridge	Dažnai (30–79%)
Recurrent colds	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Deformity of the skull	Kartais (5–29%)
Gum enlargement	Kartais (5–29%)
Inflammation of the mouth	Kartais (5–29%)
Coarse facial features	Neužfiksuota
Frontal bossing	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Eczema	Labai dažnai (80–99%)
Recurrent cutaneous abscess formation	Labai dažnai (80–99%)
Recurrent infections	Labai dažnai (80–99%)
Recurrent pneumonia	Labai dažnai (80–99%)
Recurrent respiratory infections	Labai dažnai (80–99%)
Skin abscess	Labai dažnai (80–99%)
Skin rash	Labai dažnai (80–99%)
Chronic infection	Dažnai (30–79%)
Opportunistic infection	Dažnai (30–79%)
Recurrent mucocutaneous candidiasis	Dažnai (30–79%)
Recurrent Staphylococcus aureus infection	Dažnai (30–79%)
Bone infection	Kartais (5–29%)
Recurrent chest infections	Kartais (5–29%)
Autoimmune antibody positivity	Neužfiksuota
Autoimmunity	Neužfiksuota
Recurrent fungal infections	Neužfiksuota
Recurrent sinus and lung infections	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Generalized myoclonic seizure	Dažnai (30–79%)
Global developmental delay	Dažnai (30–79%)
Grand mal seizures	Dažnai (30–79%)
Intellectual disability	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Addictive alcohol use	Kartais (5–29%)
Apraxia	Kartais (5–29%)
Ataxia	Kartais (5–29%)
Chiari type I malformation	Kartais (5–29%)
Coma	Kartais (5–29%)
Intellectual disability, severe	Kartais (5–29%)
Peripheral axonal neuropathy	Kartais (5–29%)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Arthrogryposis multiplex congenita	Dažnai (30–79%)
Double-Jointed	Dažnai (30–79%)
Lower-limb joint contracture	Dažnai (30–79%)
Muscle weakness	Dažnai (30–79%)
Osteopenia	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Recurrent fractures	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Bacterial infection of skin	Kartais (5–29%)
Bone pain	Kartais (5–29%)
Low muscle tone	Kartais (5–29%)
Polyarticular arthritis	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Dehydration	Labai dažnai (80–99%)
Glucose in urine	Labai dažnai (80–99%)
High blood sugar	Labai dažnai (80–99%)
Neonatal insulin-dependent diabetes mellitus	Labai dažnai (80–99%)
Fever	Dažnai (30–79%)
High urine albumin levels	Dažnai (30–79%)
Ketonuria	Dažnai (30–79%)
Pleural empyema	Kartais (5–29%)
Type 1 diabetes	Kartais (5–29%)
Blood in urine	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Partial or complete collapse of part or entire lung	Labai dažnai (80–99%)
Cough	Dažnai (30–79%)
Exertional breathlessness	Dažnai (30–79%)
Permanent enlargement of the airways of the lungs	Dažnai (30–79%)
Pulmonary cyst	Dažnai (30–79%)
Pulmonary pneumatocele	Dažnai (30–79%)
Desquamative interstitial pneumonitis	Kartais (5–29%)
Interstitial pneumonitis	Kartais (5–29%)
Wet cough	Kartais (5–29%)

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Generalized abnormality of skin	Labai dažnai (80–99%)
Itching	Labai dažnai (80–99%)
Open skin sore	Labai dažnai (80–99%)
Abnormality of the hair	Dažnai (30–79%)
Papule	Dažnai (30–79%)
Paronychia	Dažnai (30–79%)
Poor fingernail formation	Dažnai (30–79%)
Skin vesicle	Kartais (5–29%)

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Depleted blood volume	Labai dažnai (80–99%)
Abnormality of the heart	Dažnai (30–79%)
Enlarged liver and spleen	Dažnai (30–79%)
Aneurysm	Kartais (5–29%)
Swollen lymph nodes	Kartais (5–29%)
Redness of skin or mucous membrane	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Deeply set eye	Dažnai (30–79%)
Drooping of both upper eyelids	Dažnai (30–79%)
Noninflammatory retina disease	Dažnai (30–79%)
Wide-set eyes	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Faltering weight	Labai dažnai (80–99%)
Weight loss	Labai dažnai (80–99%)
Prenatal growth deficiency	Dažnai (30–79%)
Short stature	Dažnai (30–79%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Chronic infections of the middle ear	Dažnai (30–79%)
Dizziness	Dažnai (30–79%)
Hearing impairment	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormal function of filtrating structures in kidney	Kartais (5–29%)
Abnormality of the upper urinary tract	Kartais (5–29%)
Abnormal uterus bleeding	Retai (1–4 %)

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)
Chest pain	Kartais (5–29%)
Death of body tissue due to lack of blood flow or infection	Retai (1–4 %)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Increased circulating IgE concentration	Labai dažnai (80–99%)
Decreased circulating antibody level	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Delayed puberty	Kartais (5–29%)
Underactive thyroid	Kartais (5–29%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su STAT3 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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