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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Degenerative joint disease	Aina
Abnormality of connective tissue	Hyvin usein (80–99%)
Double-Jointed	Usein (30–79%)
Hip osteoarthritis	Usein (30–79%)
Intervertebral disk degeneration	Usein (30–79%)
Scoliosis	Usein (30–79%)
Abnormality of the sternum	Joskus (5–29%)
Congenital diaphragmatic hernia	Joskus (5–29%)
Funnel chest	Joskus (5–29%)
Joint dislocation	Joskus (5–29%)
Pigeon chest	Joskus (5–29%)

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Dropped arches	Hyvin usein (80–99%)
Club feet	Usein (30–79%)
Fused toes	Usein (30–79%)
Knee osteoarthritis	Usein (30–79%)
Long slender fingers	Usein (30–79%)
Permanent flexion of the finger	Usein (30–79%)
Single transverse palmar crease	Usein (30–79%)
Bilateral single transverse palmar creases	Joskus (5–29%)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Exertional breathlessness	Usein (30–79%)
Paroxysmal dyspnea	Usein (30–79%)
Softening of voice box tissue	Usein (30–79%)
Collapsed lung	Joskus (5–29%)
Coughing up blood	Joskus (5–29%)
Spontaneous collapsed lung	Joskus (5–29%)
Subglottic stenosis	Joskus (5–29%)

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Meckel diverticulum	Aina
Abdominal situs ambiguus	Usein (30–79%)
Inguinal hernia	Usein (30–79%)
Umbilical hernia	Usein (30–79%)
Eosinophilic infiltration of the esophagus	Joskus (5–29%)
Intestinal malrotation	Joskus (5–29%)

Abnormality of the nervous system

Trait	Kuinka usein sitä esiintyy
Lateral ventricle dilatation	Aina
Global developmental delay	Usein (30–79%)
Migraine	Usein (30–79%)
Dural ectasia	Joskus (5–29%)
Epilepsy	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Short stature	Aina
Faltering weight	Usein (30–79%)
Tall stature	Usein (30–79%)
Disproportionate tall stature	Joskus (5–29%)
Isomerism	Joskus (5–29%)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Abnormality of the iris	Usein (30–79%)
Blue outer white part of eyeball	Usein (30–79%)
Wide-set eyes	Usein (30–79%)
Close sighted	Joskus (5–29%)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Atypical scarring of skin	Usein (30–79%)
Stretch marks	Usein (30–79%)
Dermal translucency	Joskus (5–29%)
Thin skin	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Bruising susceptibility	Usein (30–79%)
Bleeding tendency	Joskus (5–29%)
Subarachnoid hemorrhage	Joskus (5–29%)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Chest pain	Usein (30–79%)
Chronic fatigue	Usein (30–79%)
Joint pain	Usein (30–79%)

Abnormality of the ear

Trait	Kuinka usein sitä esiintyy
Ears rotated toward back of head	Usein (30–79%)
Low-set ears	Usein (30–79%)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Ectopic posterior pituitary	Aina
Underdeveloped pituitary gland	Aina

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Asthma	Usein (30–79%)
Eczema	Usein (30–79%)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Uterine rupture	Hyvin usein (80–99%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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