Trăsături

Trăsături asociate cu SMAD3

SMAD family member 3

Human Phenotype Ontology asociază 114 trăsături cu SMAD3, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
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%)
Cutis marmorata	Foarte des (80–99%)
Dilatation of the sinus of Valsalva	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%)
Brain aneurysm	Des (30–79%)
Descending aortic dissection	Des (30–79%)
Enlarged heart	Des (30–79%)
High blood pressure	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Plaque build-up in arteries supplying blood to heart	Des (30–79%)
Thoracic aortic aneurysm	Des (30–79%)
Twisted cerebral arteries	Des (30–79%)
Varicose veins	Des (30–79%)
Abdominal aortic aneurysm	Uneori (5–29%)
Abnormality of the heart	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	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%)
Left ventricular hypertrophy	Uneori (5–29%)
Mini stroke	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Peripheral arterial stenosis	Uneori (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Uneori (5–29%)
Stroke	Uneori (5–29%)
Ventricular hypertrophy	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Abnormality of connective tissue	Foarte des (80–99%)
Degenerative joint disease	Des (30–79%)
Displacement of one backbone compared to another	Des (30–79%)
Double-Jointed	Des (30–79%)
Intervertebral disk degeneration	Des (30–79%)
Osteochondritis dissecans	Des (30–79%)
Osteopenia	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Hip osteoarthritis	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Permanent flexion of the finger or toe	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)
Cervical spine instability	Rar (1–4%)
Osteoporosis	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Bad bite	Des (30–79%)
Bifid uvula	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Deformity of the skull	Des (30–79%)
High forehead	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Long face	Des (30–79%)
Long, narrow head	Des (30–79%)
Zygomatic flattening	Des (30–79%)
High, narrow palate	Uneori (5–29%)
Receding chin	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Dropped arches	Foarte des (80–99%)
Abnormally indented hip sockets	Des (30–79%)
Club feet	Des (30–79%)
Knee osteoarthritis	Des (30–79%)
Long slender fingers	Des (30–79%)
Osteoarthritis of the small joints of the hand	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)

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%)
Bulging eye	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Clouding of the lens of the eye	Uneori (5–29%)
Outward facing eye ball	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Atypical scarring of skin	Des (30–79%)
Soft skin	Des (30–79%)
Stretch marks	Des (30–79%)
Dermal translucency	Uneori (5–29%)
Sunken or indented skin due to damage	Uneori (5–29%)
Thin skin	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%)
Spontaneous collapsed lung	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Uterine rupture	Foarte des (80–99%)
Abnormal bladder morphology	Des (30–79%)
Sagging uterus	Des (30–79%)
Bladder hernia	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%)
Subarachnoid hemorrhage	Uneori (5–29%)

Abnormality of the digestive system

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

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Dural ectasia	Des (30–79%)
Headache	Des (30–79%)
Migraine	Des (30–79%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Chronic fatigue	Des (30–79%)
Sudden death	Uneori (5–29%)

Abnormality of the immune system

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

Growth abnormality

Trăsătură	Cât de frecvent apare
Tall stature	Des (30–79%)
Disproportionate tall stature	Uneori (5–29%)

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 SMAD3 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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