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	Cât de frecvent apare
Arterial tortuosity	Întotdeauna
Aneurysm	Foarte des (80–99%)
Arterial dissection	Foarte des (80–99%)
Bulge in wall of large artery that carries blood away from heart	Foarte des (80–99%)
Bulge in wall of root of large artery that carries blood away from heart	Foarte des (80–99%)
Cutis marmorata	Foarte des (80–99%)
Mucoid extracellular matrix accumulation	Foarte des (80–99%)
Patent ductus arteriosus	Foarte des (80–99%)
Tear in inner wall of large artery that carries blood away from heart	Foarte des (80–99%)
Abnormal left ventricular function	Des (30–79%)
Aortic regurgitation	Des (30–79%)
Ascending aortic dissection	Des (30–79%)
Bulging of wall of large artery located above heart	Des (30–79%)
Descending aortic dissection	Des (30–79%)
Dilated left subclavian artery	Des (30–79%)
Enlarged heart	Des (30–79%)
High blood pressure	Des (30–79%)
Patent foramen ovale	Des (30–79%)
Plaque build-up in arteries supplying blood to heart	Des (30–79%)
Abdominal aortic aneurysm	Uneori (5–29%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Brain aneurysm	Uneori (5–29%)
Cardiac diverticulum	Uneori (5–29%)
Carotid artery dilatation	Uneori (5–29%)
Depleted blood volume	Uneori (5–29%)
Descending thoracic aorta aneurysm	Uneori (5–29%)
Dilatation of mesenteric artery	Uneori (5–29%)
Heart stops beating	Uneori (5–29%)
Ischemic stroke	Uneori (5–29%)
Mini stroke	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Mitral valve prolapse	Uneori (5–29%)
Peripheral arterial stenosis	Uneori (5–29%)
Pulmonary artery aneurysm	Uneori (5–29%)
Stroke	Uneori (5–29%)
Swollen lymph nodes	Uneori (5–29%)
Aortic arch aneurysm	Rar (1–4%)
Generalized twisted arteries	Neînregistrat

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Cât de frecvent apare
Inguinal hernia	Întotdeauna
Abdominal pain	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Esophageal carcinoma	Foarte des (80–99%)
Feeding difficulties in infancy	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Colon cancer	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Rectal tumor	Des (30–79%)
Stomach tumor	Des (30–79%)
Cancer of the pancreas	Uneori (5–29%)
Eosinophilic infiltration of the esophagus	Uneori (5–29%)
Growths in inner lining of intestine	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Liver cancer	Uneori (5–29%)
Pancreatic adenocarcinoma	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat

Abnormality of the musculoskeletal system

Trait	Cât de frecvent apare
Osteoporosis	Întotdeauna
Abnormality of connective tissue	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Funnel chest	Foarte des (80–99%)
Abnormality of the sternum	Des (30–79%)
Low muscle tone	Des (30–79%)
Permanent flexion of the finger or toe	Des (30–79%)
Pigeon chest	Des (30–79%)
Scoliosis	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Joint dislocation	Uneori (5–29%)
Skeletal tumor	Uneori (5–29%)
Displacement of one backbone compared to another	Neînregistrat

Abnormality of limbs

Trait	Cât de frecvent apare
Clinodactyly of the 5th toe	Foarte des (80–99%)
Dropped arches	Foarte des (80–99%)
Club feet	Des (30–79%)
Long slender fingers	Des (30–79%)
Permanent flexion of the finger	Des (30–79%)
Absent outermost hand bone	Uneori (5–29%)
Postaxial polydactyly	Uneori (5–29%)
Webbed fingers or toes	Uneori (5–29%)
Abnormally indented hip sockets	Neînregistrat
Joint contracture of the hand	Neînregistrat
Short fingers or toes	Neînregistrat

Abnormality of head or neck

Trait	Cât de frecvent apare
Adenoma sebaceum	Foarte des (80–99%)
Bifid uvula	Foarte des (80–99%)
Cleft of the mouth	Des (30–79%)
Cleft palate	Des (30–79%)
Deformity of the skull	Des (30–79%)
Little lower jaw	Des (30–79%)
Receding chin	Des (30–79%)
Zygomatic flattening	Des (30–79%)
Cancer of salivary gland	Uneori (5–29%)
High, narrow palate	Uneori (5–29%)

Abnormality of the eye

Trait	Cât de frecvent apare
Wide-set eyes	Foarte des (80–99%)
Abnormality of the iris	Des (30–79%)
Blue outer white part of eyeball	Des (30–79%)
Bulging eye	Des (30–79%)
Outward facing eye ball	Des (30–79%)
Amaurosis fugax	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)

Abnormality of the integument

Trait	Cât de frecvent apare
Skin cancer	Foarte des (80–99%)
Atypical scarring of skin	Des (30–79%)
Dermal translucency	Des (30–79%)
Soft skin	Des (30–79%)
Stretch marks	Des (30–79%)
Basal cell carcinoma	Uneori (5–29%)
Thin skin	Uneori (5–29%)

Abnormality of the respiratory system

Trait	Cât de frecvent apare
Cough	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Paroxysmal dyspnea	Des (30–79%)
Collapsed lung	Uneori (5–29%)
Coughing up blood	Uneori (5–29%)
Laryngeal carcinoma	Uneori (5–29%)
Spontaneous collapsed lung	Uneori (5–29%)

Abnormality of the genitourinary system

Trait	Cât de frecvent apare
Uterine rupture	Foarte des (80–99%)
Endometrial carcinoma	Uneori (5–29%)
Kidney cancer	Uneori (5–29%)
Malignant genitourinary tract tumor	Uneori (5–29%)
Ovarian cancer	Uneori (5–29%)
Urinary tract neoplasm	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Cât de frecvent apare
Gastrointestinal bleeding	Foarte des (80–99%)
Bleeding tendency	Uneori (5–29%)
Blood tumor	Uneori (5–29%)
Bruising susceptibility	Uneori (5–29%)
Subarachnoid hemorrhage	Uneori (5–29%)

Growth abnormality

Trait	Cât de frecvent apare
Weight loss	Foarte des (80–99%)
Tall stature	Des (30–79%)
Disproportionate tall stature	Uneori (5–29%)

Abnormality of the endocrine system

Trait	Cât de frecvent apare
Neoplasm of the thyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)

Abnormality of the immune system

Trait	Cât de frecvent apare
Asthma	Des (30–79%)
Eczema	Des (30–79%)

Constitutional symptom

Trait	Cât de frecvent apare
Fatigue	Foarte des (80–99%)
Chest pain	Des (30–79%)

Abnormality of the breast

Trait	Cât de frecvent apare
Breast cancer	Uneori (5–29%)

Abnormality of the voice

Trait	Cât de frecvent apare
Abnormality of the voice	Des (30–79%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

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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