Traits

Traits linked to TGFBR1

transforming growth factor beta receptor 1

The Human Phenotype Ontology links 97 traits to TGFBR1, by body system: features seen in people with one of the gene's rare conditions.

TGFBR1

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%)
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%)
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%)
Pulmonary artery aneurysm	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%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Extra ribs	Always
Funnel chest	Always
Poorly developed skeletal musculature	Always
Abnormality of connective tissue	Very often (80–99%)
Abnormality of the sternum	Often (30–79%)
Displacement of one backbone compared to another	Often (30–79%)
Double-Jointed	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Pigeon chest	Often (30–79%)
Scoliosis	Often (30–79%)
Cervical spine instability	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Facial asymmetry	Always
Bifid uvula	Very often (80–99%)
Little lower jaw	Very often (80–99%)
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%)
Receding chin	Often (30–79%)
Zygomatic flattening	Often (30–79%)
High, narrow palate	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Cross-eyed	Always
Wide-set eyes	Very often (80–99%)
Abnormality of the iris	Often (30–79%)
Blue outer white part of eyeball	Often (30–79%)
Bulging eye	Often (30–79%)
Drooping upper eyelid	Often (30–79%)
Outward facing eye ball	Often (30–79%)
Close sighted	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Self-healing squamous epithelioma	Always
Stretch marks	Always
Atypical scarring of skin	Often (30–79%)
Dermal translucency	Often (30–79%)
Soft skin	Often (30–79%)
Thin skin	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Dural ectasia	Always
Obstructive sleep apnea	Often (30–79%)
Chiari malformation	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)
Intellectual disability	Not recorded

Abnormality of limbs

Trait	How often it is seen
Dropped arches	Always
Club feet	Often (30–79%)
Long slender fingers	Often (30–79%)
Permanent flexion of the finger	Often (30–79%)
Extra little finger	Not recorded

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 blood and blood-forming tissues

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

Abnormality of the digestive system

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

Abnormality of the ear

Trait	How often it is seen
Low-set ears	Often (30–79%)
Prominent ear	Often (30–79%)

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 fatigue	Always
Chest pain	Often (30–79%)

Growth abnormality

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

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 TGFBR1 and how often each is seen. Find out more at hpo.jax.org.

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