AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga CBL seotud tunnused
Cbl proto-oncogene
Inimese fenotüübi ontoloogia seostab geeniga CBL 140 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 |
|---|---|
| Cystic hygroma | Väga sageli (80–99%) |
| Downward slanting of the opening between the eyelids | Väga sageli (80–99%) |
| Full lower lip | Väga sageli (80–99%) |
| High forehead | Väga sageli (80–99%) |
| High palate | Väga sageli (80–99%) |
| Little lower jaw | Väga sageli (80–99%) |
| Midface retrusion | Väga sageli (80–99%) |
| Thickened skin folds of neck | Väga sageli (80–99%) |
| Triangular face | Väga sageli (80–99%) |
| Webbed neck | Väga sageli (80–99%) |
| Abnormally small head | Sageli (30–79%) |
| Broad forehead | Sageli (30–79%) |
| Deep philtrum | Sageli (30–79%) |
| Eye folds | Sageli (30–79%) |
| Full lips | Sageli (30–79%) |
| Highly arched eyebrow | Sageli (30–79%) |
| Low hairline at back of neck | Sageli (30–79%) |
| Nasal tip, upturned | Sageli (30–79%) |
| Receding chin | Sageli (30–79%) |
| Short neck | Sageli (30–79%) |
| Depressed nasal bridge | Pole registreeritud |
| Frontal bossing | Pole registreeritud |
| Long philtrum | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiovascular system morphology | Väga sageli (80–99%) |
| Abnormal EKG | Väga sageli (80–99%) |
| Narrowing of lung artery | Väga sageli (80–99%) |
| Abnormal heart rate | Sageli (30–79%) |
| Abnormal pulmonary valve morphology | Sageli (30–79%) |
| Abnormality of the lymphatic system | Sageli (30–79%) |
| Abnormality of the spleen | Sageli (30–79%) |
| Enlarged liver and spleen | Sageli (30–79%) |
| Increased spleen size | Sageli (30–79%) |
| Low blood pressure | Sageli (30–79%) |
| Swollen lymph nodes | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Enlarged and thickened heart muscle | Mõnikord (5–29%) |
| Hives | Mõnikord (5–29%) |
| Hypersplenism | Mõnikord (5–29%) |
| Narrowing of aorta | Mõnikord (5–29%) |
| Portal hypertension | Mõnikord (5–29%) |
| Patent ductus arteriosus | Harva (1–4%) |
| Aortic valve has two leaflets rather than three | Pole registreeritud |
| Mitral regurgitation | Pole registreeritud |
| Narrowing of aortic valve | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Juvenile myelomonocytic leukemia | Alati |
| Abnormal mast cell morphology | Väga sageli (80–99%) |
| Abnormal platelet function | Sageli (30–79%) |
| Abnormality of coagulation | Sageli (30–79%) |
| Bleeding tendency | Sageli (30–79%) |
| Elevated white blood count | Sageli (30–79%) |
| Increased CD25+ mast cell proportion | Sageli (30–79%) |
| Blood cancer | Mõnikord (5–29%) |
| Blood tumor | Mõnikord (5–29%) |
| Bruising susceptibility | Mõnikord (5–29%) |
| Gastrointestinal bleeding | Mõnikord (5–29%) |
| Low blood cell count | Mõnikord (5–29%) |
| Low blood neutrophil count | Mõnikord (5–29%) |
| Low number of red blood cells or hemoglobin | Mõnikord (5–29%) |
| Low platelet count | Mõnikord (5–29%) |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Double-Jointed | Alati |
| Funnel chest | Väga sageli (80–99%) |
| Muscle weakness | Väga sageli (80–99%) |
| Pigeon chest | Väga sageli (80–99%) |
| Wide rib cage | Väga sageli (80–99%) |
| Bone pain | Sageli (30–79%) |
| Delayed bone maturation | Sageli (30–79%) |
| Low muscle tone | Sageli (30–79%) |
| Osteoporosis | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Breakdown of bone | Mõnikord (5–29%) |
| Osteopenia | Mõnikord (5–29%) |
| Spontaneous fracture | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent/small abdominal wall muscles | Väga sageli (80–99%) |
| Abdominal cramps | Sageli (30–79%) |
| Abdominal pain | Sageli (30–79%) |
| Anorexia | Sageli (30–79%) |
| Diarrhea | Sageli (30–79%) |
| Enlarged liver | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
| Malabsorption | Sageli (30–79%) |
| Poor suck | Sageli (30–79%) |
| Accumulation of fluid in the abdomen | Mõnikord (5–29%) |
| Decreased liver function | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal fingerprints | Sageli (30–79%) |
| Abnormal hair quantity | Sageli (30–79%) |
| Birthmark | Sageli (30–79%) |
| Coarse hair | Sageli (30–79%) |
| Fine hair | Sageli (30–79%) |
| Flushing | Sageli (30–79%) |
| Itching | Sageli (30–79%) |
| Sparse hair | Sageli (30–79%) |
| Abnormal blistering of the skin | Mõnikord (5–29%) |
| Abnormal skin structure | Mõnikord (5–29%) |
| Beauty mark | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal speech pattern | Väga sageli (80–99%) |
| Difficulty articulating speech | Väga sageli (80–99%) |
| Delayed speech and language development | Sageli (30–79%) |
| Global developmental delay | Sageli (30–79%) |
| Neurodevelopmental delay | Sageli (30–79%) |
| Short attention span | Sageli (30–79%) |
| Intellectual disability | Mõnikord (5–29%) |
| Specific learning disability | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Alati |
| Thickened helices | Väga sageli (80–99%) |
| Overfolded ears | Sageli (30–79%) |
| Aplasia of the semicircular canal | Mõnikord (5–29%) |
| Sensorineural hearing impairment | Mõnikord (5–29%) |
| Large ears | Pole registreeritud |
| Low-set ears | Pole registreeritud |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bulging eye | Väga sageli (80–99%) |
| Drooping upper eyelid | Väga sageli (80–99%) |
| Wide-set eyes | Väga sageli (80–99%) |
| Blue eyes | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Increased mobility in finger joint | Sageli (30–79%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Fused forearm bones | Mõnikord (5–29%) |
| Short fingers or toes | Mõnikord (5–29%) |
| Outward turned elbows | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Väga sageli (80–99%) |
| Faltering weight | Sageli (30–79%) |
| Growth delay as children | Sageli (30–79%) |
| Weight loss | Sageli (30–79%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated alkaline phosphatase | Sageli (30–79%) |
| Elevated total serum tryptase | Sageli (30–79%) |
| Chylothorax | Mõnikord (5–29%) |
| Swelling caused by excess lymph fluid under skin | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the reproductive system | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Dilatation of the renal pelvis | Mõnikord (5–29%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Constitutional symptom | Sageli (30–79%) |
| Fatigue | Sageli (30–79%) |
| Joint pain | Sageli (30–79%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hypogonadotropic hypogonadism | Väga sageli (80–99%) |
| Delayed start of first period | Mõnikord (5–29%) |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Anaphylaxis | Sageli (30–79%) |
| Maculopapular exanthema | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Väga sageli (80–99%) |
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 CBL seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast