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	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Visada
Aortic valve has two leaflets rather than three	Visada
Arterial tortuosity	Visada
Narrowing of pulmonic valve	Visada
Patent ductus arteriosus	Visada
Truncus arteriosus	Visada
Aneurysm	Labai dažnai (80–99%)
Arterial dissection	Labai dažnai (80–99%)
Bulge in wall of large artery that carries blood away from heart	Labai dažnai (80–99%)
Cutis marmorata	Labai dažnai (80–99%)
Double outlet right ventricle	Labai dažnai (80–99%)
Mucoid extracellular matrix accumulation	Labai dažnai (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Labai dažnai (80–99%)
Abnormal left ventricular function	Dažnai (30–79%)
Anomalous pulmonary venous return	Dažnai (30–79%)
Aortic regurgitation	Dažnai (30–79%)
Ascending aortic dissection	Dažnai (30–79%)
Carotid artery dilatation	Dažnai (30–79%)
Descending aortic dissection	Dažnai (30–79%)
Dextrotransposition of the great arteries	Dažnai (30–79%)
Enlarged heart	Dažnai (30–79%)
Heart tip and four chambers point towards right side of body	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Left superior vena cava draining directly to the left atrium	Dažnai (30–79%)
Partial anomalous pulmonary venous return	Dažnai (30–79%)
Plaque build-up in arteries supplying blood to heart	Dažnai (30–79%)
Thoracic aortic aneurysm	Dažnai (30–79%)
Unbalanced atrioventricular canal defect	Dažnai (30–79%)
Varicose veins	Dažnai (30–79%)
Ventricular hypertrophy	Dažnai (30–79%)
Vertebral artery aneurysm	Dažnai (30–79%)
Abdominal aortic aneurysm	Kartais (5–29%)
Absent spleen	Kartais (5–29%)
Brain aneurysm	Kartais (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Kartais (5–29%)
Carotid artery dissection	Kartais (5–29%)
Depleted blood volume	Kartais (5–29%)
Descending thoracic aorta aneurysm	Kartais (5–29%)
Heart stops beating	Kartais (5–29%)
Ischemic stroke	Kartais (5–29%)
Mini stroke	Kartais (5–29%)
Mitral atresia	Kartais (5–29%)
Mitral regurgitation	Kartais (5–29%)
Peripheral arterial stenosis	Kartais (5–29%)
Persistent left superior vena cava	Kartais (5–29%)
Pulmonary valve atresia	Kartais (5–29%)
Stroke	Kartais (5–29%)

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Degenerative joint disease	Visada
Abnormality of connective tissue	Labai dažnai (80–99%)
Double-Jointed	Dažnai (30–79%)
Hip osteoarthritis	Dažnai (30–79%)
Intervertebral disk degeneration	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormality of the sternum	Kartais (5–29%)
Congenital diaphragmatic hernia	Kartais (5–29%)
Funnel chest	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Pigeon chest	Kartais (5–29%)

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Dropped arches	Labai dažnai (80–99%)
Club feet	Dažnai (30–79%)
Fused toes	Dažnai (30–79%)
Knee osteoarthritis	Dažnai (30–79%)
Long slender fingers	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Single transverse palmar crease	Dažnai (30–79%)
Bilateral single transverse palmar creases	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Exertional breathlessness	Dažnai (30–79%)
Paroxysmal dyspnea	Dažnai (30–79%)
Softening of voice box tissue	Dažnai (30–79%)
Collapsed lung	Kartais (5–29%)
Coughing up blood	Kartais (5–29%)
Spontaneous collapsed lung	Kartais (5–29%)
Subglottic stenosis	Kartais (5–29%)

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Meckel diverticulum	Visada
Abdominal situs ambiguus	Dažnai (30–79%)
Inguinal hernia	Dažnai (30–79%)
Umbilical hernia	Dažnai (30–79%)
Eosinophilic infiltration of the esophagus	Kartais (5–29%)
Intestinal malrotation	Kartais (5–29%)

Abnormality of the nervous system

Trait	Kaip dažnai pasireiškia
Lateral ventricle dilatation	Visada
Global developmental delay	Dažnai (30–79%)
Migraine	Dažnai (30–79%)
Dural ectasia	Kartais (5–29%)
Epilepsy	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Short stature	Visada
Faltering weight	Dažnai (30–79%)
Tall stature	Dažnai (30–79%)
Disproportionate tall stature	Kartais (5–29%)
Isomerism	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Abnormality of the iris	Dažnai (30–79%)
Blue outer white part of eyeball	Dažnai (30–79%)
Wide-set eyes	Dažnai (30–79%)
Close sighted	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Atypical scarring of skin	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Dermal translucency	Kartais (5–29%)
Thin skin	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Bruising susceptibility	Dažnai (30–79%)
Bleeding tendency	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Chest pain	Dažnai (30–79%)
Chronic fatigue	Dažnai (30–79%)
Joint pain	Dažnai (30–79%)

Abnormality of the ear

Trait	Kaip dažnai pasireiškia
Ears rotated toward back of head	Dažnai (30–79%)
Low-set ears	Dažnai (30–79%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Ectopic posterior pituitary	Visada
Underdeveloped pituitary gland	Visada

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Asthma	Dažnai (30–79%)
Eczema	Dažnai (30–79%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Uterine rupture	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

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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