AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Požymiai
Su CBL susiję požymiai
Cbl proto-oncogene
Žmogaus fenotipo ontologija sieja 140 požymių su CBL, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
AtlasKam padedameMūsų mokslasProduktaiRezultatai
PrisijungtiKlaustiSekvenuokite savo genomą↗
Abnormality of head or neck
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Cystic hygroma | Labai dažnai (80–99%) |
| Downward slanting of the opening between the eyelids | Labai dažnai (80–99%) |
| Full lower lip | Labai dažnai (80–99%) |
| High forehead | Labai dažnai (80–99%) |
| High palate | Labai dažnai (80–99%) |
| Little lower jaw | Labai dažnai (80–99%) |
| Midface retrusion | Labai dažnai (80–99%) |
| Thickened skin folds of neck | Labai dažnai (80–99%) |
| Triangular face | Labai dažnai (80–99%) |
| Webbed neck | Labai dažnai (80–99%) |
| Abnormally small head | Dažnai (30–79%) |
| Broad forehead | Dažnai (30–79%) |
| Deep philtrum | Dažnai (30–79%) |
| Eye folds | Dažnai (30–79%) |
| Full lips | Dažnai (30–79%) |
| Highly arched eyebrow | Dažnai (30–79%) |
| Low hairline at back of neck | Dažnai (30–79%) |
| Nasal tip, upturned | Dažnai (30–79%) |
| Receding chin | Dažnai (30–79%) |
| Short neck | Dažnai (30–79%) |
| Depressed nasal bridge | Neužfiksuota |
| Frontal bossing | Neužfiksuota |
| Long philtrum | Neužfiksuota |
Abnormality of the cardiovascular system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal cardiovascular system morphology | Labai dažnai (80–99%) |
| Abnormal EKG | Labai dažnai (80–99%) |
| Narrowing of lung artery | Labai dažnai (80–99%) |
| Abnormal heart rate | Dažnai (30–79%) |
| Abnormal pulmonary valve morphology | Dažnai (30–79%) |
| Abnormality of the lymphatic system | Dažnai (30–79%) |
| Abnormality of the spleen | Dažnai (30–79%) |
| Enlarged liver and spleen | Dažnai (30–79%) |
| Increased spleen size | Dažnai (30–79%) |
| Low blood pressure | Dažnai (30–79%) |
| Swollen lymph nodes | Dažnai (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Kartais (5–29%) |
| Enlarged and thickened heart muscle | Kartais (5–29%) |
| Hives | Kartais (5–29%) |
| Hypersplenism | Kartais (5–29%) |
| Narrowing of aorta | Kartais (5–29%) |
| Portal hypertension | Kartais (5–29%) |
| Patent ductus arteriosus | Retai (1–4 %) |
| Aortic valve has two leaflets rather than three | Neužfiksuota |
| Mitral regurgitation | Neužfiksuota |
| Narrowing of aortic valve | Neužfiksuota |
Abnormality of blood and blood-forming tissues
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Juvenile myelomonocytic leukemia | Visada |
| Abnormal mast cell morphology | Labai dažnai (80–99%) |
| Abnormal platelet function | Dažnai (30–79%) |
| Abnormality of coagulation | Dažnai (30–79%) |
| Bleeding tendency | Dažnai (30–79%) |
| Elevated white blood count | Dažnai (30–79%) |
| Increased CD25+ mast cell proportion | Dažnai (30–79%) |
| Blood cancer | Kartais (5–29%) |
| Blood tumor | Kartais (5–29%) |
| Bruising susceptibility | Kartais (5–29%) |
| Gastrointestinal bleeding | Kartais (5–29%) |
| Low blood cell count | Kartais (5–29%) |
| Low blood neutrophil count | Kartais (5–29%) |
| Low number of red blood cells or hemoglobin | Kartais (5–29%) |
| Low platelet count | Kartais (5–29%) |
Abnormality of the musculoskeletal system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Double-Jointed | Visada |
| Funnel chest | Labai dažnai (80–99%) |
| Muscle weakness | Labai dažnai (80–99%) |
| Pigeon chest | Labai dažnai (80–99%) |
| Wide rib cage | Labai dažnai (80–99%) |
| Bone pain | Dažnai (30–79%) |
| Delayed bone maturation | Dažnai (30–79%) |
| Low muscle tone | Dažnai (30–79%) |
| Osteoporosis | Dažnai (30–79%) |
| Scoliosis | Dažnai (30–79%) |
| Breakdown of bone | Kartais (5–29%) |
| Osteopenia | Kartais (5–29%) |
| Spontaneous fracture | Kartais (5–29%) |
Abnormality of the digestive system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Absent/small abdominal wall muscles | Labai dažnai (80–99%) |
| Abdominal cramps | Dažnai (30–79%) |
| Abdominal pain | Dažnai (30–79%) |
| Anorexia | Dažnai (30–79%) |
| Diarrhea | Dažnai (30–79%) |
| Enlarged liver | Dažnai (30–79%) |
| Feeding difficulties in infancy | Dažnai (30–79%) |
| Malabsorption | Dažnai (30–79%) |
| Poor suck | Dažnai (30–79%) |
| Accumulation of fluid in the abdomen | Kartais (5–29%) |
| Decreased liver function | Kartais (5–29%) |
Abnormality of the integument
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal fingerprints | Dažnai (30–79%) |
| Abnormal hair quantity | Dažnai (30–79%) |
| Birthmark | Dažnai (30–79%) |
| Coarse hair | Dažnai (30–79%) |
| Fine hair | Dažnai (30–79%) |
| Flushing | Dažnai (30–79%) |
| Itching | Dažnai (30–79%) |
| Sparse hair | Dažnai (30–79%) |
| Abnormal blistering of the skin | Kartais (5–29%) |
| Abnormal skin structure | Kartais (5–29%) |
| Beauty mark | Kartais (5–29%) |
Abnormality of the nervous system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormal speech pattern | Labai dažnai (80–99%) |
| Difficulty articulating speech | Labai dažnai (80–99%) |
| Delayed speech and language development | Dažnai (30–79%) |
| Global developmental delay | Dažnai (30–79%) |
| Neurodevelopmental delay | Dažnai (30–79%) |
| Short attention span | Dažnai (30–79%) |
| Intellectual disability | Kartais (5–29%) |
| Specific learning disability | Kartais (5–29%) |
Abnormality of the ear
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Ears rotated toward back of head | Visada |
| Thickened helices | Labai dažnai (80–99%) |
| Overfolded ears | Dažnai (30–79%) |
| Aplasia of the semicircular canal | Kartais (5–29%) |
| Sensorineural hearing impairment | Kartais (5–29%) |
| Large ears | Neužfiksuota |
| Low-set ears | Neužfiksuota |
Abnormality of the eye
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Bulging eye | Labai dažnai (80–99%) |
| Drooping upper eyelid | Labai dažnai (80–99%) |
| Wide-set eyes | Labai dažnai (80–99%) |
| Blue eyes | Dažnai (30–79%) |
| Cross-eyed | Dažnai (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Kartais (5–29%) |
Abnormality of limbs
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Increased mobility in finger joint | Dažnai (30–79%) |
| Curvature of little finger | Kartais (5–29%) |
| Fused forearm bones | Kartais (5–29%) |
| Short fingers or toes | Kartais (5–29%) |
| Outward turned elbows | Neužfiksuota |
Growth abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Short stature | Labai dažnai (80–99%) |
| Faltering weight | Dažnai (30–79%) |
| Growth delay as children | Dažnai (30–79%) |
| Weight loss | Dažnai (30–79%) |
Laboratory abnormality
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Elevated alkaline phosphatase | Dažnai (30–79%) |
| Elevated total serum tryptase | Dažnai (30–79%) |
| Chylothorax | Kartais (5–29%) |
| Swelling caused by excess lymph fluid under skin | Kartais (5–29%) |
Abnormality of the genitourinary system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Abnormality of the reproductive system | Dažnai (30–79%) |
| Undescended testes | Dažnai (30–79%) |
| Dilatation of the renal pelvis | Kartais (5–29%) |
Constitutional symptom
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Constitutional symptom | Dažnai (30–79%) |
| Fatigue | Dažnai (30–79%) |
| Joint pain | Dažnai (30–79%) |
Abnormality of the endocrine system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Hypogonadotropic hypogonadism | Labai dažnai (80–99%) |
| Delayed start of first period | Kartais (5–29%) |
Abnormality of the immune system
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Anaphylaxis | Dažnai (30–79%) |
| Maculopapular exanthema | Kartais (5–29%) |
Abnormality of prenatal development or birth
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| High levels of amniotic fluid | Kartais (5–29%) |
Abnormality of the breast
| Požymis | Kaip dažnai pasireiškia |
|---|---|
| Wide-spaced nipples | Labai dažnai (80–99%) |
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 CBL susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.
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PrisijungtiKlaustiSekvenuokite savo genomą↗
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