AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Trăsături
Trăsături asociate cu STAT3
signal transducer and activator of transcription 3
Human Phenotype Ontology asociază 172 trăsături cu STAT3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
Abnormality of the digestive system
Abnormality of blood and blood-forming tissues
| Trăsătură | Cât de frecvent apare |
|---|---|
| Autoimmune hemolytic anemia | Foarte des (80–99%) |
| Autoimmune neutropenia | Des (30–79%) |
| Autoimmune thrombocytopenia | Des (30–79%) |
| Bleeding gums | Des (30–79%) |
| Bleeding tendency | Des (30–79%) |
| Blood spots | Des (30–79%) |
| Bloody nose | Des (30–79%) |
| Bone marrow hypercellularity | Des (30–79%) |
| Bruising susceptibility | Des (30–79%) |
| Decreased blood leukocyte number | Des (30–79%) |
| Disseminated intravascular coagulation | Des (30–79%) |
| Ecchymosis | Des (30–79%) |
| High blood eosinophil count | Des (30–79%) |
| Low blood cell count | Des (30–79%) |
| Low number of red blood cells or hemoglobin | Des (30–79%) |
| Low platelet count | Des (30–79%) |
| Petechiae | Des (30–79%) |
| Cancer of lymphatic system | Uneori (5–29%) |
| Diffuse alveolar hemorrhage | Uneori (5–29%) |
| Elevated white blood count | Uneori (5–29%) |
| Hodgkin lymphoma | Uneori (5–29%) |
| Hypofibrinogenemia | Uneori (5–29%) |
| Low blood neutrophil count | Uneori (5–29%) |
| Oral cavity bleeding | Uneori (5–29%) |
Abnormality of head or neck
| Trăsătură | Cât de frecvent apare |
|---|---|
| Wide nose | Întotdeauna |
| Abnormal dentition | Des (30–79%) |
| Abnormality of the face | Des (30–79%) |
| Big lower jaw | Des (30–79%) |
| Chronic oral thrush | Des (30–79%) |
| Cleft palate | Des (30–79%) |
| Delayed eruption of teeth | Des (30–79%) |
| Delayed loss of baby teeth | Des (30–79%) |
| Dentinogenesis imperfecta | Des (30–79%) |
| Downturned corners of mouth | Des (30–79%) |
| Facial asymmetry | Des (30–79%) |
| Fatty deposits in skin around the eyes | Des (30–79%) |
| High palate | Des (30–79%) |
| Inflamed gums | Des (30–79%) |
| Prominent forehead | Des (30–79%) |
| Prominent metopic ridge | Des (30–79%) |
| Recurrent colds | Des (30–79%) |
| Wide nasal bridge | Des (30–79%) |
| Deformity of the skull | Uneori (5–29%) |
| Gum enlargement | Uneori (5–29%) |
| Inflammation of the mouth | Uneori (5–29%) |
| Coarse facial features | Neînregistrat |
| Frontal bossing | Neînregistrat |
Abnormality of the immune system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Eczema | Foarte des (80–99%) |
| Recurrent cutaneous abscess formation | Foarte des (80–99%) |
| Recurrent infections | Foarte des (80–99%) |
| Recurrent pneumonia | Foarte des (80–99%) |
| Recurrent respiratory infections | Foarte des (80–99%) |
| Skin abscess | Foarte des (80–99%) |
| Skin rash | Foarte des (80–99%) |
| Chronic infection | Des (30–79%) |
| Opportunistic infection | Des (30–79%) |
| Recurrent mucocutaneous candidiasis | Des (30–79%) |
| Recurrent Staphylococcus aureus infection | Des (30–79%) |
| Bone infection | Uneori (5–29%) |
| Recurrent chest infections | Uneori (5–29%) |
| Autoimmune antibody positivity | Neînregistrat |
| Autoimmunity | Neînregistrat |
| Recurrent fungal infections | Neînregistrat |
| Recurrent sinus and lung infections | Neînregistrat |
Abnormality of the nervous system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Generalized myoclonic seizure | Des (30–79%) |
| Global developmental delay | Des (30–79%) |
| Grand mal seizures | Des (30–79%) |
| Intellectual disability | Des (30–79%) |
| Motor delay | Des (30–79%) |
| Neurodevelopmental delay | Des (30–79%) |
| Addictive alcohol use | Uneori (5–29%) |
| Apraxia | Uneori (5–29%) |
| Ataxia | Uneori (5–29%) |
| Chiari type I malformation | Uneori (5–29%) |
| Coma | Uneori (5–29%) |
| Intellectual disability, severe | Uneori (5–29%) |
| Peripheral axonal neuropathy | Uneori (5–29%) |
Abnormality of the musculoskeletal system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Arthrogryposis multiplex congenita | Des (30–79%) |
| Double-Jointed | Des (30–79%) |
| Lower-limb joint contracture | Des (30–79%) |
| Muscle weakness | Des (30–79%) |
| Osteopenia | Des (30–79%) |
| Osteoporosis | Des (30–79%) |
| Recurrent fractures | Des (30–79%) |
| Scoliosis | Des (30–79%) |
| Bacterial infection of skin | Uneori (5–29%) |
| Bone pain | Uneori (5–29%) |
| Low muscle tone | Uneori (5–29%) |
| Polyarticular arthritis | Uneori (5–29%) |
Laboratory abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Dehydration | Foarte des (80–99%) |
| Glucose in urine | Foarte des (80–99%) |
| High blood sugar | Foarte des (80–99%) |
| Neonatal insulin-dependent diabetes mellitus | Foarte des (80–99%) |
| Fever | Des (30–79%) |
| High urine albumin levels | Des (30–79%) |
| Ketonuria | Des (30–79%) |
| Pleural empyema | Uneori (5–29%) |
| Type 1 diabetes | Uneori (5–29%) |
| Blood in urine | Rar (1–4%) |
Abnormality of the respiratory system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Partial or complete collapse of part or entire lung | Foarte des (80–99%) |
| Cough | Des (30–79%) |
| Exertional breathlessness | Des (30–79%) |
| Permanent enlargement of the airways of the lungs | Des (30–79%) |
| Pulmonary cyst | Des (30–79%) |
| Pulmonary pneumatocele | Des (30–79%) |
| Desquamative interstitial pneumonitis | Uneori (5–29%) |
| Interstitial pneumonitis | Uneori (5–29%) |
| Wet cough | Uneori (5–29%) |
Abnormality of the integument
| Trăsătură | Cât de frecvent apare |
|---|---|
| Generalized abnormality of skin | Foarte des (80–99%) |
| Itching | Foarte des (80–99%) |
| Open skin sore | Foarte des (80–99%) |
| Abnormality of the hair | Des (30–79%) |
| Papule | Des (30–79%) |
| Paronychia | Des (30–79%) |
| Poor fingernail formation | Des (30–79%) |
| Skin vesicle | Uneori (5–29%) |
Abnormality of the cardiovascular system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Depleted blood volume | Foarte des (80–99%) |
| Abnormality of the heart | Des (30–79%) |
| Enlarged liver and spleen | Des (30–79%) |
| Aneurysm | Uneori (5–29%) |
| Swollen lymph nodes | Uneori (5–29%) |
| Redness of skin or mucous membrane | Neînregistrat |
Abnormality of the eye
| Trăsătură | Cât de frecvent apare |
|---|---|
| Deeply set eye | Des (30–79%) |
| Drooping of both upper eyelids | Des (30–79%) |
| Noninflammatory retina disease | Des (30–79%) |
| Wide-set eyes | Neînregistrat |
Growth abnormality
| Trăsătură | Cât de frecvent apare |
|---|---|
| Faltering weight | Foarte des (80–99%) |
| Weight loss | Foarte des (80–99%) |
| Prenatal growth deficiency | Des (30–79%) |
| Short stature | Des (30–79%) |
Abnormality of the ear
| Trăsătură | Cât de frecvent apare |
|---|---|
| Chronic infections of the middle ear | Des (30–79%) |
| Dizziness | Des (30–79%) |
| Hearing impairment | Uneori (5–29%) |
Abnormality of the genitourinary system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Abnormal function of filtrating structures in kidney | Uneori (5–29%) |
| Abnormality of the upper urinary tract | Uneori (5–29%) |
| Abnormal uterus bleeding | Rar (1–4%) |
Constitutional symptom
| Trăsătură | Cât de frecvent apare |
|---|---|
| Fatigue | Des (30–79%) |
| Chest pain | Uneori (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Rar (1–4%) |
Abnormal cellular phenotype
| Trăsătură | Cât de frecvent apare |
|---|---|
| Increased circulating IgE concentration | Foarte des (80–99%) |
| Decreased circulating antibody level | Des (30–79%) |
Abnormality of the endocrine system
| Trăsătură | Cât de frecvent apare |
|---|---|
| Delayed puberty | Uneori (5–29%) |
| Underactive thyroid | Uneori (5–29%) |
Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.
De unde provin aceste informații
- Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu STAT3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.
AtlasCui ne adresămȘtiința noastrăProduseRezultate
ConectareÎntrebațiSecvențiați-vă genomul↗
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