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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga STAT3 seotud tunnused
signal transducer and activator of transcription 3
Inimese fenotüübi ontoloogia seostab geeniga STAT3 172 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the digestive system
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Autoimmune hemolytic anemia | Väga sageli (80–99%) |
| Autoimmune neutropenia | Sageli (30–79%) |
| Autoimmune thrombocytopenia | Sageli (30–79%) |
| Bleeding gums | Sageli (30–79%) |
| Bleeding tendency | Sageli (30–79%) |
| Blood spots | Sageli (30–79%) |
| Bloody nose | Sageli (30–79%) |
| Bone marrow hypercellularity | Sageli (30–79%) |
| Bruising susceptibility | Sageli (30–79%) |
| Decreased blood leukocyte number | Sageli (30–79%) |
| Disseminated intravascular coagulation | Sageli (30–79%) |
| Ecchymosis | Sageli (30–79%) |
| High blood eosinophil count | Sageli (30–79%) |
| Low blood cell count | Sageli (30–79%) |
| Low number of red blood cells or hemoglobin | Sageli (30–79%) |
| Low platelet count | Sageli (30–79%) |
| Petechiae | Sageli (30–79%) |
| Cancer of lymphatic system | Mõnikord (5–29%) |
| Diffuse alveolar hemorrhage | Mõnikord (5–29%) |
| Elevated white blood count | Mõnikord (5–29%) |
| Hodgkin lymphoma | Mõnikord (5–29%) |
| Hypofibrinogenemia | Mõnikord (5–29%) |
| Low blood neutrophil count | Mõnikord (5–29%) |
| Oral cavity bleeding | Mõnikord (5–29%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide nose | Alati |
| Abnormal dentition | Sageli (30–79%) |
| Abnormality of the face | Sageli (30–79%) |
| Big lower jaw | Sageli (30–79%) |
| Chronic oral thrush | Sageli (30–79%) |
| Cleft palate | Sageli (30–79%) |
| Delayed eruption of teeth | Sageli (30–79%) |
| Delayed loss of baby teeth | Sageli (30–79%) |
| Dentinogenesis imperfecta | Sageli (30–79%) |
| Downturned corners of mouth | Sageli (30–79%) |
| Facial asymmetry | Sageli (30–79%) |
| Fatty deposits in skin around the eyes | Sageli (30–79%) |
| High palate | Sageli (30–79%) |
| Inflamed gums | Sageli (30–79%) |
| Prominent forehead | Sageli (30–79%) |
| Prominent metopic ridge | Sageli (30–79%) |
| Recurrent colds | Sageli (30–79%) |
| Wide nasal bridge | Sageli (30–79%) |
| Deformity of the skull | Mõnikord (5–29%) |
| Gum enlargement | Mõnikord (5–29%) |
| Inflammation of the mouth | Mõnikord (5–29%) |
| Coarse facial features | Pole registreeritud |
| Frontal bossing | Pole registreeritud |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Eczema | Väga sageli (80–99%) |
| Recurrent cutaneous abscess formation | Väga sageli (80–99%) |
| Recurrent infections | Väga sageli (80–99%) |
| Recurrent pneumonia | Väga sageli (80–99%) |
| Recurrent respiratory infections | Väga sageli (80–99%) |
| Skin abscess | Väga sageli (80–99%) |
| Skin rash | Väga sageli (80–99%) |
| Chronic infection | Sageli (30–79%) |
| Opportunistic infection | Sageli (30–79%) |
| Recurrent mucocutaneous candidiasis | Sageli (30–79%) |
| Recurrent Staphylococcus aureus infection | Sageli (30–79%) |
| Bone infection | Mõnikord (5–29%) |
| Recurrent chest infections | Mõnikord (5–29%) |
| Autoimmune antibody positivity | Pole registreeritud |
| Autoimmunity | Pole registreeritud |
| Recurrent fungal infections | Pole registreeritud |
| Recurrent sinus and lung infections | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Generalized myoclonic seizure | Sageli (30–79%) |
| Global developmental delay | Sageli (30–79%) |
| Grand mal seizures | Sageli (30–79%) |
| Intellectual disability | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Neurodevelopmental delay | Sageli (30–79%) |
| Addictive alcohol use | Mõnikord (5–29%) |
| Apraxia | Mõnikord (5–29%) |
| Ataxia | Mõnikord (5–29%) |
| Chiari type I malformation | Mõnikord (5–29%) |
| Coma | Mõnikord (5–29%) |
| Intellectual disability, severe | Mõnikord (5–29%) |
| Peripheral axonal neuropathy | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Arthrogryposis multiplex congenita | Sageli (30–79%) |
| Double-Jointed | Sageli (30–79%) |
| Lower-limb joint contracture | Sageli (30–79%) |
| Muscle weakness | Sageli (30–79%) |
| Osteopenia | Sageli (30–79%) |
| Osteoporosis | Sageli (30–79%) |
| Recurrent fractures | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Bacterial infection of skin | Mõnikord (5–29%) |
| Bone pain | Mõnikord (5–29%) |
| Low muscle tone | Mõnikord (5–29%) |
| Polyarticular arthritis | Mõnikord (5–29%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Dehydration | Väga sageli (80–99%) |
| Glucose in urine | Väga sageli (80–99%) |
| High blood sugar | Väga sageli (80–99%) |
| Neonatal insulin-dependent diabetes mellitus | Väga sageli (80–99%) |
| Fever | Sageli (30–79%) |
| High urine albumin levels | Sageli (30–79%) |
| Ketonuria | Sageli (30–79%) |
| Pleural empyema | Mõnikord (5–29%) |
| Type 1 diabetes | Mõnikord (5–29%) |
| Blood in urine | Harva (1–4%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Partial or complete collapse of part or entire lung | Väga sageli (80–99%) |
| Cough | Sageli (30–79%) |
| Exertional breathlessness | Sageli (30–79%) |
| Permanent enlargement of the airways of the lungs | Sageli (30–79%) |
| Pulmonary cyst | Sageli (30–79%) |
| Pulmonary pneumatocele | Sageli (30–79%) |
| Desquamative interstitial pneumonitis | Mõnikord (5–29%) |
| Interstitial pneumonitis | Mõnikord (5–29%) |
| Wet cough | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Generalized abnormality of skin | Väga sageli (80–99%) |
| Itching | Väga sageli (80–99%) |
| Open skin sore | Väga sageli (80–99%) |
| Abnormality of the hair | Sageli (30–79%) |
| Papule | Sageli (30–79%) |
| Paronychia | Sageli (30–79%) |
| Poor fingernail formation | Sageli (30–79%) |
| Skin vesicle | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Depleted blood volume | Väga sageli (80–99%) |
| Abnormality of the heart | Sageli (30–79%) |
| Enlarged liver and spleen | Sageli (30–79%) |
| Aneurysm | Mõnikord (5–29%) |
| Swollen lymph nodes | Mõnikord (5–29%) |
| Redness of skin or mucous membrane | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Deeply set eye | Sageli (30–79%) |
| Drooping of both upper eyelids | Sageli (30–79%) |
| Noninflammatory retina disease | Sageli (30–79%) |
| Wide-set eyes | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
| Weight loss | Väga sageli (80–99%) |
| Prenatal growth deficiency | Sageli (30–79%) |
| Short stature | Sageli (30–79%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chronic infections of the middle ear | Sageli (30–79%) |
| Dizziness | Sageli (30–79%) |
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal function of filtrating structures in kidney | Mõnikord (5–29%) |
| Abnormality of the upper urinary tract | Mõnikord (5–29%) |
| Abnormal uterus bleeding | Harva (1–4%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Sageli (30–79%) |
| Chest pain | Mõnikord (5–29%) |
| Death of body tissue due to lack of blood flow or infection | Harva (1–4%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Increased circulating IgE concentration | Väga sageli (80–99%) |
| Decreased circulating antibody level | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed puberty | Mõnikord (5–29%) |
| Underactive thyroid | Mõnikord (5–29%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga STAT3 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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