Trăsături

Trăsături asociate cu TGFB2

transforming growth factor beta 2

Human Phenotype Ontology asociază 103 trăsături cu TGFB2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

TGFB2

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Bulging of wall of large artery located above heart	Întotdeauna
Aneurysm	Foarte des (80–99%)
Arterial dissection	Foarte des (80–99%)
Arterial tortuosity	Foarte des (80–99%)
Bulge in wall of large artery that carries blood away from heart	Foarte des (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	Foarte des (80–99%)
Cutis marmorata	Foarte des (80–99%)
Mucoid extracellular matrix accumulation	Foarte des (80–99%)
Patent ductus arteriosus	Foarte des (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Foarte des (80–99%)
Abnormal left ventricular function	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Aortic tortuosity	Des (30–79%)
Ascending aortic dissection	Des (30–79%)
Descending aortic dissection	Des (30–79%)
Enlarged heart	Des (30–79%)
High blood pressure	Des (30–79%)
Plaque build-up in arteries supplying blood to heart	Des (30–79%)
Abdominal aortic aneurysm	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Carotid artery dilatation	Uneori (5–29%)
Depleted blood volume	Uneori (5–29%)
Descending thoracic aorta aneurysm	Uneori (5–29%)
Heart stops beating	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Mini stroke	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Peripheral arterial stenosis	Uneori (5–29%)
Stroke	Uneori (5–29%)
Varicose veins	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormality of connective tissue	Foarte des (80–99%)
Abnormality of the sternum	Des (30–79%)
Double-Jointed	Des (30–79%)
Scoliosis	Des (30–79%)
Displacement of one backbone compared to another	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Bone overgrowth	Neînregistrat
Lower limb pain	Neînregistrat
Muscle degeneration	Neînregistrat
Muscle weakness	Neînregistrat
Osteopenia	Neînregistrat
Thoracolumbar scoliosis	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bifid uvula	Întotdeauna
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Deformity of the skull	Des (30–79%)
Downward slanting of the opening between the eyelids	Des (30–79%)
High palate	Des (30–79%)
High, narrow palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long, narrow head	Des (30–79%)
Receding chin	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Broad uvula	Uneori (5–29%)
Wry neck	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Foarte des (80–99%)
Club feet	Des (30–79%)
Long slender fingers	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Abnormally indented hip sockets	Uneori (5–29%)
Hip contracture	Neînregistrat
Inability to straighten knee	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Abnormality of the iris	Des (30–79%)
Blue outer white part of eyeball	Des (30–79%)
Wide-set eyes	Des (30–79%)
Close sighted	Uneori (5–29%)
Drooping upper eyelid	Uneori (5–29%)
Flat cornea	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Paroxysmal dyspnea	Des (30–79%)
Collapsed lung	Uneori (5–29%)
Coughing up blood	Uneori (5–29%)
Emphysema	Uneori (5–29%)
Spontaneous collapsed lung	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Atypical scarring of skin	Des (30–79%)
Stretch marks	Des (30–79%)
Hyperelastic skin	Uneori (5–29%)
Soft skin	Uneori (5–29%)
Thin skin	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Bruising susceptibility	Des (30–79%)
Bleeding tendency	Uneori (5–29%)
Recurrent thrombophlebitis	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Dural ectasia	Des (30–79%)
Tarlov cyst	Des (30–79%)
Waddling gait	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inguinal hernia	Des (30–79%)
Eosinophilic infiltration of the esophagus	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Decreased activity of gonads	Neînregistrat
Delayed puberty	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Asthma	Des (30–79%)
Eczema	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chronic pain	Întotdeauna
Chest pain	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Tall stature	Des (30–79%)
Disproportionate tall stature	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Elevated alkaline phosphatase	Neînregistrat
High ESR	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Uterine rupture	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 TGFB2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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