Traits

Traits linked to TGFB2

transforming growth factor beta 2

The Human Phenotype Ontology links 103 traits to TGFB2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Bulging of wall of large artery located above heart	Always
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%)
Bulge in wall of root of large artery that carries blood away from heart	Very often (80–99%)
Cutis marmorata	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%)
Descending aortic dissection	Often (30–79%)
Enlarged heart	Often (30–79%)
High blood pressure	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Brain aneurysm	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%)
Mini stroke	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Mitral valve prolapse	Sometimes (5–29%)
Peripheral arterial stenosis	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Varicose veins	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormality of connective tissue	Very often (80–99%)
Abnormality of the sternum	Often (30–79%)
Double-Jointed	Often (30–79%)
Scoliosis	Often (30–79%)
Displacement of one backbone compared to another	Sometimes (5–29%)
Funnel chest	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Pigeon chest	Sometimes (5–29%)
Bone overgrowth	Not recorded
Lower limb pain	Not recorded
Muscle degeneration	Not recorded
Muscle weakness	Not recorded
Osteopenia	Not recorded
Thoracolumbar scoliosis	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Bifid uvula	Always
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Deformity of the skull	Often (30–79%)
Downward slanting of the opening between the eyelids	Often (30–79%)
High palate	Often (30–79%)
High, narrow palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long, narrow head	Often (30–79%)
Receding chin	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Broad uvula	Sometimes (5–29%)
Wry neck	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Very often (80–99%)
Club feet	Often (30–79%)
Long slender fingers	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Abnormally indented hip sockets	Sometimes (5–29%)
Hip contracture	Not recorded
Inability to straighten knee	Not recorded

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%)
Close sighted	Sometimes (5–29%)
Drooping upper eyelid	Sometimes (5–29%)
Flat cornea	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%)
Emphysema	Sometimes (5–29%)
Spontaneous collapsed lung	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Atypical scarring of skin	Often (30–79%)
Stretch marks	Often (30–79%)
Hyperelastic skin	Sometimes (5–29%)
Soft skin	Sometimes (5–29%)
Thin skin	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%)
Recurrent thrombophlebitis	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Dural ectasia	Often (30–79%)
Tarlov cyst	Often (30–79%)
Waddling gait	Not recorded

Abnormality of the digestive system

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

Abnormality of the endocrine system

Trait	How often it is seen
Decreased activity of gonads	Not recorded
Delayed puberty	Not recorded

Abnormality of the immune system

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

Constitutional symptom

Trait	How often it is seen
Chronic pain	Always
Chest pain	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Tall stature	Often (30–79%)
Disproportionate tall stature	Not recorded

Laboratory abnormality

Trait	How often it is seen
Elevated alkaline phosphatase	Not recorded
High ESR	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Uterine rupture	Very often (80–99%)

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 TGFB2 and how often each is seen. Find out more at hpo.jax.org.

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