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

Abnormality of head or neck

Trait	Hvor ofte det ses
Long face	Altid
Midface retrusion	Altid
Only one upper front tooth	Altid
Bifid uvula	Ofte (30–79 %)
Broad forehead	Ofte (30–79 %)
Cleft of the mouth	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Deformity of the skull	Ofte (30–79 %)
Dental crowding	Ofte (30–79 %)
Depressed nasal bridge	Ofte (30–79 %)
High palate	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Short nose	Ofte (30–79 %)
Zygomatic flattening	Ofte (30–79 %)
Broad uvula	Nogle gange (5–29 %)
Downward slanting of the opening between the eyelids	Nogle gange (5–29 %)
High, narrow palate	Nogle gange (5–29 %)
Long, narrow head	Nogle gange (5–29 %)
Receding chin	Nogle gange (5–29 %)

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Degenerative joint disease	Altid
Abnormality of connective tissue	Meget ofte (80–99 %)
Double-Jointed	Ofte (30–79 %)
Hip osteoarthritis	Ofte (30–79 %)
Intervertebral disk degeneration	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Abnormality of the sternum	Nogle gange (5–29 %)
Congenital diaphragmatic hernia	Nogle gange (5–29 %)
Funnel chest	Nogle gange (5–29 %)
Joint dislocation	Nogle gange (5–29 %)
Pigeon chest	Nogle gange (5–29 %)

Abnormality of limbs

Trait	Hvor ofte det ses
Dropped arches	Meget ofte (80–99 %)
Club feet	Ofte (30–79 %)
Fused toes	Ofte (30–79 %)
Knee osteoarthritis	Ofte (30–79 %)
Long slender fingers	Ofte (30–79 %)
Permanent flexion of the finger	Ofte (30–79 %)
Single transverse palmar crease	Ofte (30–79 %)
Bilateral single transverse palmar creases	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Exertional breathlessness	Ofte (30–79 %)
Paroxysmal dyspnea	Ofte (30–79 %)
Softening of voice box tissue	Ofte (30–79 %)
Collapsed lung	Nogle gange (5–29 %)
Coughing up blood	Nogle gange (5–29 %)
Spontaneous collapsed lung	Nogle gange (5–29 %)
Subglottic stenosis	Nogle gange (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte det ses
Meckel diverticulum	Altid
Abdominal situs ambiguus	Ofte (30–79 %)
Inguinal hernia	Ofte (30–79 %)
Umbilical hernia	Ofte (30–79 %)
Eosinophilic infiltration of the esophagus	Nogle gange (5–29 %)
Intestinal malrotation	Nogle gange (5–29 %)

Abnormality of the nervous system

Trait	Hvor ofte det ses
Lateral ventricle dilatation	Altid
Global developmental delay	Ofte (30–79 %)
Migraine	Ofte (30–79 %)
Dural ectasia	Nogle gange (5–29 %)
Epilepsy	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Short stature	Altid
Faltering weight	Ofte (30–79 %)
Tall stature	Ofte (30–79 %)
Disproportionate tall stature	Nogle gange (5–29 %)
Isomerism	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Abnormality of the iris	Ofte (30–79 %)
Blue outer white part of eyeball	Ofte (30–79 %)
Wide-set eyes	Ofte (30–79 %)
Close sighted	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Atypical scarring of skin	Ofte (30–79 %)
Stretch marks	Ofte (30–79 %)
Dermal translucency	Nogle gange (5–29 %)
Thin skin	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Bruising susceptibility	Ofte (30–79 %)
Bleeding tendency	Nogle gange (5–29 %)
Subarachnoid hemorrhage	Nogle gange (5–29 %)

Constitutional symptom

Trait	Hvor ofte det ses
Chest pain	Ofte (30–79 %)
Chronic fatigue	Ofte (30–79 %)
Joint pain	Ofte (30–79 %)

Abnormality of the ear

Trait	Hvor ofte det ses
Ears rotated toward back of head	Ofte (30–79 %)
Low-set ears	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Ectopic posterior pituitary	Altid
Underdeveloped pituitary gland	Altid

Abnormality of the immune system

Trait	Hvor ofte det ses
Asthma	Ofte (30–79 %)
Eczema	Ofte (30–79 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Uterine rupture	Meget ofte (80–99 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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