Trăsături

Trăsături asociate cu CBL

Cbl proto-oncogene

Human Phenotype Ontology asociază 140 trăsături cu CBL, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cystic hygroma	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Thickened skin folds of neck	Foarte des (80–99%)
Triangular face	Foarte des (80–99%)
Webbed neck	Foarte des (80–99%)
Abnormally small head	Des (30–79%)
Broad forehead	Des (30–79%)
Deep philtrum	Des (30–79%)
Eye folds	Des (30–79%)
Full lips	Des (30–79%)
Highly arched eyebrow	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Nasal tip, upturned	Des (30–79%)
Receding chin	Des (30–79%)
Short neck	Des (30–79%)
Depressed nasal bridge	Neînregistrat
Frontal bossing	Neînregistrat
Long philtrum	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Narrowing of lung artery	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Abnormal pulmonary valve morphology	Des (30–79%)
Abnormality of the lymphatic system	Des (30–79%)
Abnormality of the spleen	Des (30–79%)
Enlarged liver and spleen	Des (30–79%)
Increased spleen size	Des (30–79%)
Low blood pressure	Des (30–79%)
Swollen lymph nodes	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Hives	Uneori (5–29%)
Hypersplenism	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Portal hypertension	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)
Aortic valve has two leaflets rather than three	Neînregistrat
Mitral regurgitation	Neînregistrat
Narrowing of aortic valve	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Juvenile myelomonocytic leukemia	Întotdeauna
Abnormal mast cell morphology	Foarte des (80–99%)
Abnormal platelet function	Des (30–79%)
Abnormality of coagulation	Des (30–79%)
Bleeding tendency	Des (30–79%)
Elevated white blood count	Des (30–79%)
Increased CD25+ mast cell proportion	Des (30–79%)
Blood cancer	Uneori (5–29%)
Blood tumor	Uneori (5–29%)
Bruising susceptibility	Uneori (5–29%)
Gastrointestinal bleeding	Uneori (5–29%)
Low blood cell count	Uneori (5–29%)
Low blood neutrophil count	Uneori (5–29%)
Low number of red blood cells or hemoglobin	Uneori (5–29%)
Low platelet count	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Întotdeauna
Funnel chest	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Wide rib cage	Foarte des (80–99%)
Bone pain	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Low muscle tone	Des (30–79%)
Osteoporosis	Des (30–79%)
Scoliosis	Des (30–79%)
Breakdown of bone	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Spontaneous fracture	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent/small abdominal wall muscles	Foarte des (80–99%)
Abdominal cramps	Des (30–79%)
Abdominal pain	Des (30–79%)
Anorexia	Des (30–79%)
Diarrhea	Des (30–79%)
Enlarged liver	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Malabsorption	Des (30–79%)
Poor suck	Des (30–79%)
Accumulation of fluid in the abdomen	Uneori (5–29%)
Decreased liver function	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Birthmark	Des (30–79%)
Coarse hair	Des (30–79%)
Fine hair	Des (30–79%)
Flushing	Des (30–79%)
Itching	Des (30–79%)
Sparse hair	Des (30–79%)
Abnormal blistering of the skin	Uneori (5–29%)
Abnormal skin structure	Uneori (5–29%)
Beauty mark	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Delayed speech and language development	Des (30–79%)
Global developmental delay	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Short attention span	Des (30–79%)
Intellectual disability	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Întotdeauna
Thickened helices	Foarte des (80–99%)
Overfolded ears	Des (30–79%)
Aplasia of the semicircular canal	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Large ears	Neînregistrat
Low-set ears	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Wide-set eyes	Foarte des (80–99%)
Blue eyes	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Increased mobility in finger joint	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Outward turned elbows	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Growth delay as children	Des (30–79%)
Weight loss	Des (30–79%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated alkaline phosphatase	Des (30–79%)
Elevated total serum tryptase	Des (30–79%)
Chylothorax	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the reproductive system	Des (30–79%)
Undescended testes	Des (30–79%)
Dilatation of the renal pelvis	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Constitutional symptom	Des (30–79%)
Fatigue	Des (30–79%)
Joint pain	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Delayed start of first period	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Anaphylaxis	Des (30–79%)
Maculopapular exanthema	Uneori (5–29%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Foarte des (80–99%)

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 CBL și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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