Traits

Traits linked to TGFBR2

transforming growth factor beta receptor 2

The Human Phenotype Ontology links 165 traits to TGFBR2, 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
Arterial tortuosity	Always
Aneurysm	Very often (80–99%)
Arterial dissection	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%)
Bulging of wall of large artery located above heart	Often (30–79%)
Descending aortic dissection	Often (30–79%)
Dilated left subclavian artery	Often (30–79%)
Enlarged heart	Often (30–79%)
High blood pressure	Often (30–79%)
Patent foramen ovale	Often (30–79%)
Plaque build-up in arteries supplying blood to heart	Often (30–79%)
Abdominal aortic aneurysm	Sometimes (5–29%)
An opening in the wall separating the top two chambers of the heart	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Brain aneurysm	Sometimes (5–29%)
Cardiac diverticulum	Sometimes (5–29%)
Carotid artery dilatation	Sometimes (5–29%)
Depleted blood volume	Sometimes (5–29%)
Descending thoracic aorta aneurysm	Sometimes (5–29%)
Dilatation of mesenteric artery	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%)
Pulmonary artery aneurysm	Sometimes (5–29%)
Stroke	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Aortic arch aneurysm	Rarely (1–4%)
Generalized twisted arteries	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Glioblastoma multiforme	Very often (80–99%)
Anxiety	Often (30–79%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Depression	Often (30–79%)
Dural ectasia	Often (30–79%)
Epilepsy	Often (30–79%)
Irritability	Often (30–79%)
Migraine	Often (30–79%)
Rise in pressure inside skull	Often (30–79%)
Abnormal gait	Sometimes (5–29%)
Abnormal pyramidal sign	Sometimes (5–29%)
Abnormal speech pattern	Sometimes (5–29%)
Benign neoplasm of the central nervous system	Sometimes (5–29%)
Cancer of early nerve cells	Sometimes (5–29%)
Chiari malformation	Sometimes (5–29%)
Difficulty articulating speech	Sometimes (5–29%)
Disorder of involuntary muscle movements	Sometimes (5–29%)
Disturbed sensory perception	Sometimes (5–29%)
Dysgraphia	Sometimes (5–29%)
Global developmental delay	Sometimes (5–29%)
Hallucinations	Sometimes (5–29%)
Intellectual disability	Sometimes (5–29%)
Loss of developmental milestones	Sometimes (5–29%)
Memory impairment	Sometimes (5–29%)
Paralysis or weakness of one side of body	Sometimes (5–29%)
Pins and needles feeling	Sometimes (5–29%)
Too much cerebrospinal fluid in the brain	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Always
Abdominal pain	Very often (80–99%)
Constipation	Very often (80–99%)
Esophageal carcinoma	Very often (80–99%)
Feeding difficulties in infancy	Very often (80–99%)
Malabsorption	Very often (80–99%)
Colon cancer	Often (30–79%)
Nausea and vomiting	Often (30–79%)
Rectal tumor	Often (30–79%)
Stomach tumor	Often (30–79%)
Cancer of the pancreas	Sometimes (5–29%)
Eosinophilic infiltration of the esophagus	Sometimes (5–29%)
Growths in inner lining of intestine	Sometimes (5–29%)
Hepatocellular carcinoma	Sometimes (5–29%)
Liver cancer	Sometimes (5–29%)
Pancreatic adenocarcinoma	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Always
Abnormality of connective tissue	Very often (80–99%)
Double-Jointed	Very often (80–99%)
Funnel chest	Very often (80–99%)
Abnormality of the sternum	Often (30–79%)
Low muscle tone	Often (30–79%)
Permanent flexion of the finger or toe	Often (30–79%)
Pigeon chest	Often (30–79%)
Scoliosis	Often (30–79%)
Spasticity and rigidity of muscles	Often (30–79%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Joint dislocation	Sometimes (5–29%)
Skeletal tumor	Sometimes (5–29%)
Displacement of one backbone compared to another	Not recorded

Abnormality of limbs

Trait	How often it is seen
Clinodactyly of the 5th toe	Very often (80–99%)
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%)
Absent outermost hand bone	Sometimes (5–29%)
Postaxial polydactyly	Sometimes (5–29%)
Webbed fingers or toes	Sometimes (5–29%)
Abnormally indented hip sockets	Not recorded
Joint contracture of the hand	Not recorded
Short fingers or toes	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Adenoma sebaceum	Very often (80–99%)
Bifid uvula	Very often (80–99%)
Cleft of the mouth	Often (30–79%)
Cleft palate	Often (30–79%)
Deformity of the skull	Often (30–79%)
Little lower jaw	Often (30–79%)
Receding chin	Often (30–79%)
Zygomatic flattening	Often (30–79%)
Cancer of salivary gland	Sometimes (5–29%)
High, narrow palate	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
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%)
Outward facing eye ball	Often (30–79%)
Amaurosis fugax	Sometimes (5–29%)
Close sighted	Sometimes (5–29%)
Partial loss of field of vision	Sometimes (5–29%)
Visual impairment	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Skin cancer	Very often (80–99%)
Atypical scarring of skin	Often (30–79%)
Dermal translucency	Often (30–79%)
Soft skin	Often (30–79%)
Stretch marks	Often (30–79%)
Basal cell carcinoma	Sometimes (5–29%)
Thin skin	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Cough	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Paroxysmal dyspnea	Often (30–79%)
Collapsed lung	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Laryngeal carcinoma	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%)
Endometrial carcinoma	Sometimes (5–29%)
Kidney cancer	Sometimes (5–29%)
Malignant genitourinary tract tumor	Sometimes (5–29%)
Ovarian cancer	Sometimes (5–29%)
Urinary tract neoplasm	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Gastrointestinal bleeding	Very often (80–99%)
Bleeding tendency	Sometimes (5–29%)
Blood tumor	Sometimes (5–29%)
Bruising susceptibility	Sometimes (5–29%)
Subarachnoid hemorrhage	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Weight loss	Very often (80–99%)
Tall stature	Often (30–79%)
Disproportionate tall stature	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Neoplasm of the thyroid gland	Sometimes (5–29%)
Noncancerous tumor in pituitary gland	Sometimes (5–29%)

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
Fatigue	Very often (80–99%)
Chest pain	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Sometimes (5–29%)

Abnormality of the voice

Trait	How often it is seen
Abnormality of the voice	Often (30–79%)

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 TGFBR2 and how often each is seen. Find out more at hpo.jax.org.

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