Traits

Traits linked to SMAD2

SMAD family member 2

The Human Phenotype Ontology links 130 traits to SMAD2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Întotdeauna
Aortic valve has two leaflets rather than three	Întotdeauna
Arterial tortuosity	Întotdeauna
Narrowing of pulmonic valve	Întotdeauna
Patent ductus arteriosus	Întotdeauna
Truncus arteriosus	Întotdeauna
Aneurysm	Foarte des (80–99%)
Arterial dissection	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%)
Double outlet right ventricle	Foarte des (80–99%)
Mucoid extracellular matrix accumulation	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%)
Anomalous pulmonary venous return	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Ascending aortic dissection	Des (30–79%)
Carotid artery dilatation	Des (30–79%)
Descending aortic dissection	Des (30–79%)
Dextrotransposition of the great arteries	Des (30–79%)
Enlarged heart	Des (30–79%)
Heart tip and four chambers point towards right side of body	Des (30–79%)
High blood pressure	Des (30–79%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
Left superior vena cava draining directly to the left atrium	Des (30–79%)
Partial anomalous pulmonary venous return	Des (30–79%)
Plaque build-up in arteries supplying blood to heart	Des (30–79%)
Thoracic aortic aneurysm	Des (30–79%)
Unbalanced atrioventricular canal defect	Des (30–79%)
Varicose veins	Des (30–79%)
Ventricular hypertrophy	Des (30–79%)
Vertebral artery aneurysm	Des (30–79%)
Abdominal aortic aneurysm	Uneori (5–29%)
Absent spleen	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Uneori (5–29%)
Carotid artery dissection	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 atresia	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Peripheral arterial stenosis	Uneori (5–29%)
Persistent left superior vena cava	Uneori (5–29%)
Pulmonary valve atresia	Uneori (5–29%)
Stroke	Uneori (5–29%)

Abnormality of head or neck

Trait	Cât de frecvent apare
Long face	Întotdeauna
Midface retrusion	Întotdeauna
Only one upper front tooth	Întotdeauna
Bifid uvula	Des (30–79%)
Broad forehead	Des (30–79%)
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Deformity of the skull	Des (30–79%)
Dental crowding	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
High palate	Des (30–79%)
Little lower jaw	Des (30–79%)
Short nose	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Broad uvula	Uneori (5–29%)
Downward slanting of the opening between the eyelids	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)
Long, narrow head	Uneori (5–29%)
Receding chin	Uneori (5–29%)

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Degenerative joint disease	Întotdeauna
Abnormality of connective tissue	Foarte des (80–99%)
Double-Jointed	Des (30–79%)
Hip osteoarthritis	Des (30–79%)
Intervertebral disk degeneration	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Congenital diaphragmatic hernia	Uneori (5–29%)
Funnel chest	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Pigeon chest	Uneori (5–29%)

Abnormality of limbs

Trait	Cât de frecvent apare
Dropped arches	Foarte des (80–99%)
Club feet	Des (30–79%)
Fused toes	Des (30–79%)
Knee osteoarthritis	Des (30–79%)
Long slender fingers	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Single transverse palmar crease	Des (30–79%)
Bilateral single transverse palmar creases	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Paroxysmal dyspnea	Des (30–79%)
Softening of voice box tissue	Des (30–79%)
Collapsed lung	Uneori (5–29%)
Coughing up blood	Uneori (5–29%)
Spontaneous collapsed lung	Uneori (5–29%)
Subglottic stenosis	Uneori (5–29%)

Abnormality of the digestive system

Trait	Cât de frecvent apare
Meckel diverticulum	Întotdeauna
Abdominal situs ambiguus	Des (30–79%)
Inguinal hernia	Des (30–79%)
Umbilical hernia	Des (30–79%)
Eosinophilic infiltration of the esophagus	Uneori (5–29%)
Intestinal malrotation	Uneori (5–29%)

Abnormality of the nervous system

Trait	Cât de frecvent apare
Lateral ventricle dilatation	Întotdeauna
Global developmental delay	Des (30–79%)
Migraine	Des (30–79%)
Dural ectasia	Uneori (5–29%)
Epilepsy	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Short stature	Întotdeauna
Faltering weight	Des (30–79%)
Tall stature	Des (30–79%)
Disproportionate tall stature	Uneori (5–29%)
Isomerism	Uneori (5–29%)

Abnormality of the eye

Trait	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%)

Abnormality of the integument

Trait	Cât de frecvent apare
Atypical scarring of skin	Des (30–79%)
Stretch marks	Des (30–79%)
Dermal translucency	Uneori (5–29%)
Thin skin	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

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

Constitutional symptom

Trait	Cât de frecvent apare
Chest pain	Des (30–79%)
Chronic fatigue	Des (30–79%)
Joint pain	Des (30–79%)

Abnormality of the ear

Trait	Cât de frecvent apare
Ears rotated toward back of head	Des (30–79%)
Low-set ears	Des (30–79%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Ectopic posterior pituitary	Întotdeauna
Underdeveloped pituitary gland	Întotdeauna

Abnormality of the immune system

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

Abnormality of the genitourinary system

Trait	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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SMAD2 and how often each is seen. Find out more at hpo.jax.org.

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