Traits

Traits linked to SMAD3

SMAD family member 3

The Human Phenotype Ontology links 114 traits to SMAD3, by body system: features seen in people with one of the gene's rare conditions.

SMAD3

Abnormality of the cardiovascular system

Trait	How often it is seen
Aneurysm	Very often (80–99%)
Arterial dissection	Very often (80–99%)
Arterial tortuosity	Very often (80–99%)
Bulge in wall of large artery that carries blood away from heart	Very often (80–99%)
Cutis marmorata	Very often (80–99%)
Dilatation of the sinus of Valsalva	Very often (80–99%)
Mucoid extracellular matrix accumulation	Very often (80–99%)
Patent ductus arteriosus	Very often (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Very often (80–99%)
Abnormal left ventricular function	Often (30–79%)
Aortic regurgitation	Often (30–79%)
Aortic tortuosity	Often (30–79%)
Ascending aortic dissection	Often (30–79%)
Brain aneurysm	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Enlarged heart	Often (30–79%)
High blood pressure	Often (30–79%)
Mitral regurgitation	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Thoracic aortic aneurysm	Often (30–79%)
Twisted cerebral arteries	Often (30–79%)
Varicose veins	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
Abnormality of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Bulge in wall of root of large artery that carries blood away from heart	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Heart stops beating	Sometimes (5–29%)
Ischemic stroke	Sometimes (5–29%)
Left ventricular hypertrophy	Sometimes (5–29%)
Mini stroke	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Quivering upper heart chambers resulting in irregular heartbeat	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Ventricular hypertrophy	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of connective tissue	Very often (80–99%)
Degenerative joint disease	Often (30–79%)
Displacement of one backbone compared to another	Often (30–79%)
Double-Jointed	Often (30–79%)
Intervertebral disk degeneration	Often (30–79%)
Osteochondritis dissecans	Often (30–79%)
Osteopenia	Often (30–79%)
Scoliosis	Often (30–79%)
Abnormality of the sternum	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Hip osteoarthritis	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Permanent flexion of the finger or toe	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Cervical spine instability	Rarely (1–4%)
Osteoporosis	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Bad bite	Often (30–79%)
Bifid uvula	Often (30–79%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Deformity of the skull	Often (30–79%)
High forehead	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long face	Often (30–79%)
Long, narrow head	Often (30–79%)
Zygomatic flattening	Often (30–79%)
High, narrow palate	Sometimes (5–29%)
Receding chin	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Very often (80–99%)
Abnormally indented hip sockets	Often (30–79%)
Club feet	Often (30–79%)
Knee osteoarthritis	Often (30–79%)
Long slender fingers	Often (30–79%)
Osteoarthritis of the small joints of the hand	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Abnormality of the iris	Often (30–79%)
Blue outer white part of eyeball	Often (30–79%)
Wide-set eyes	Often (30–79%)
Bulging eye	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Clouding of the lens of the eye	Sometimes (5–29%)
Outward facing eye ball	Not recorded

Abnormality of the integument

Trait	How often it is seen
Atypical scarring of skin	Often (30–79%)
Soft skin	Often (30–79%)
Stretch marks	Often (30–79%)
Dermal translucency	Sometimes (5–29%)
Sunken or indented skin due to damage	Sometimes (5–29%)
Thin skin	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Spontaneous collapsed lung	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Uterine rupture	Very often (80–99%)
Abnormal bladder morphology	Often (30–79%)
Sagging uterus	Often (30–79%)
Bladder hernia	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bruising susceptibility	Often (30–79%)
Bleeding tendency	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Often (30–79%)
Umbilical hernia	Often (30–79%)
Eosinophilic infiltration of the esophagus	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Dural ectasia	Often (30–79%)
Headache	Often (30–79%)
Migraine	Often (30–79%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Chronic fatigue	Often (30–79%)
Sudden death	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Asthma	Often (30–79%)
Eczema	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Tall stature	Often (30–79%)
Disproportionate tall stature	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to SMAD3 and how often each is seen. Find out more at hpo.jax.org.

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