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

Abnormality of head or neck

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

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Degenerative joint disease	Alati
Abnormality of connective tissue	Väga sageli (80–99%)
Double-Jointed	Sageli (30–79%)
Hip osteoarthritis	Sageli (30–79%)
Intervertebral disk degeneration	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormality of the sternum	Mõnikord (5–29%)
Congenital diaphragmatic hernia	Mõnikord (5–29%)
Funnel chest	Mõnikord (5–29%)
Joint dislocation	Mõnikord (5–29%)
Pigeon chest	Mõnikord (5–29%)

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Dropped arches	Väga sageli (80–99%)
Club feet	Sageli (30–79%)
Fused toes	Sageli (30–79%)
Knee osteoarthritis	Sageli (30–79%)
Long slender fingers	Sageli (30–79%)
Permanent flexion of the finger	Sageli (30–79%)
Single transverse palmar crease	Sageli (30–79%)
Bilateral single transverse palmar creases	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Exertional breathlessness	Sageli (30–79%)
Paroxysmal dyspnea	Sageli (30–79%)
Softening of voice box tissue	Sageli (30–79%)
Collapsed lung	Mõnikord (5–29%)
Coughing up blood	Mõnikord (5–29%)
Spontaneous collapsed lung	Mõnikord (5–29%)
Subglottic stenosis	Mõnikord (5–29%)

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Meckel diverticulum	Alati
Abdominal situs ambiguus	Sageli (30–79%)
Inguinal hernia	Sageli (30–79%)
Umbilical hernia	Sageli (30–79%)
Eosinophilic infiltration of the esophagus	Mõnikord (5–29%)
Intestinal malrotation	Mõnikord (5–29%)

Abnormality of the nervous system

Trait	Kui sageli seda täheldatakse
Lateral ventricle dilatation	Alati
Global developmental delay	Sageli (30–79%)
Migraine	Sageli (30–79%)
Dural ectasia	Mõnikord (5–29%)
Epilepsy	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Short stature	Alati
Faltering weight	Sageli (30–79%)
Tall stature	Sageli (30–79%)
Disproportionate tall stature	Mõnikord (5–29%)
Isomerism	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Abnormality of the iris	Sageli (30–79%)
Blue outer white part of eyeball	Sageli (30–79%)
Wide-set eyes	Sageli (30–79%)
Close sighted	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Atypical scarring of skin	Sageli (30–79%)
Stretch marks	Sageli (30–79%)
Dermal translucency	Mõnikord (5–29%)
Thin skin	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Bruising susceptibility	Sageli (30–79%)
Bleeding tendency	Mõnikord (5–29%)
Subarachnoid hemorrhage	Mõnikord (5–29%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Chest pain	Sageli (30–79%)
Chronic fatigue	Sageli (30–79%)
Joint pain	Sageli (30–79%)

Abnormality of the ear

Trait	Kui sageli seda täheldatakse
Ears rotated toward back of head	Sageli (30–79%)
Low-set ears	Sageli (30–79%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Ectopic posterior pituitary	Alati
Underdeveloped pituitary gland	Alati

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Asthma	Sageli (30–79%)
Eczema	Sageli (30–79%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Uterine rupture	Väga sageli (80–99%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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