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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga IL6ST seotud tunnused
interleukin 6 cytokine family signal transducer
Inimese fenotüübi ontoloogia seostab geeniga IL6ST 80 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 head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally large tongue | Alati |
| Big calvaria | Alati |
| Big lower jaw | Alati |
| Deep philtrum | Alati |
| Deformity of the skull | Alati |
| Dental crowding | Alati |
| Depressed nasal bridge | Alati |
| Downward slanting of the opening between the eyelids | Alati |
| High palate | Alati |
| Nasal tip, upturned | Alati |
| Prominent forehead | Alati |
| Scaphocephaly | Alati |
| Short neck | Alati |
| Delayed loss of baby teeth | Väga sageli (80–99%) |
| Recurrent colds | Sageli (30–79%) |
| Enlarged cisterna magna | Mõnikord (5–29%) |
| Extra teeth | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Death of bone due to decreased blood supply | Alati |
| Disease of the joints | Alati |
| Pigeon chest | Alati |
| Scoliosis | Alati |
| Thoracolumbar scoliosis | Alati |
| Double-Jointed | Sageli (30–79%) |
| Increased susceptibility to fractures | Sageli (30–79%) |
| Permanent flexion of the finger or toe | Sageli (30–79%) |
| Short long bone | Mõnikord (5–29%) |
| Small chest | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Asthma | Alati |
| Eczema | Alati |
| Food allergy | Alati |
| Recurrent pneumonia | Alati |
| Recurrent respiratory infections | Alati |
| Baby eczema | Sageli (30–79%) |
| Recurrent skin infections | Sageli (30–79%) |
| Skin abscess | Sageli (30–79%) |
| Recurrent mucocutaneous candidiasis | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High blood eosinophil count | Alati |
| Microcytic anemia | Alati |
| Low platelet count | Sageli (30–79%) |
| Decreased blood lymphocyte number | Mõnikord (5–29%) |
| Disseminated intravascular coagulation | Mõnikord (5–29%) |
| Low blood neutrophil count | Mõnikord (5–29%) |
| Reduced total natural killer cell count | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Clubbing of fingers and toes | Alati |
| Hip dislocation | Alati |
| Joint contracture of the hand | Alati |
| Outward turned elbows | Alati |
| Bowing of the long bones | Väga sageli (80–99%) |
| Club feet | Mõnikord (5–29%) |
Abnormal cellular phenotype
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased circulating antibody level | Alati |
| Increased circulating IgE concentration | Alati |
| Decreased circulating IgA concentration | Sageli (30–79%) |
| Decreased circulating IgG concentration | Mõnikord (5–29%) |
| Decreased circulating IgM concentration | Mõnikord (5–29%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver and spleen | Alati |
| Mitral regurgitation | Alati |
| Swollen lymph nodes | Alati |
| Cardiac failure | Sageli (30–79%) |
| Increased blood pressure in blood vessels of lungs | Sageli (30–79%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Permanent enlargement of the airways of the lungs | Alati |
| Breathing difficulties | Sageli (30–79%) |
| Pulmonary pneumatocele | Sageli (30–79%) |
| Bronchomalacia | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Alati |
| Low-set ears | Alati |
| Recurrent middle ear infection | Alati |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Chronic diarrhea | Alati |
| Poor swallowing | Sageli (30–79%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Corneal inflammation | Alati |
| Wide-set eyes | Alati |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Neurodevelopmental delay | Alati |
| Motor delay | Sageli (30–79%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Prenatal growth deficiency | Alati |
| Short stature | Alati |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated circulating C-reactive protein concentration | Alati |
| Elevated circulating serum amyloid A concentration | Alati |
Abnormal tissue mass
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Fibroma | Alati |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed umbilical cord separation | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Underactive thyroid | Alati |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive hair growth | Alati |
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 IL6ST seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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