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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Kaip dažnai pasireiškia
Inguinal hernia	Visada
Abdominal pain	Labai dažnai (80–99%)
Constipation	Labai dažnai (80–99%)
Esophageal carcinoma	Labai dažnai (80–99%)
Feeding difficulties in infancy	Labai dažnai (80–99%)
Malabsorption	Labai dažnai (80–99%)
Colon cancer	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Rectal tumor	Dažnai (30–79%)
Stomach tumor	Dažnai (30–79%)
Cancer of the pancreas	Kartais (5–29%)
Eosinophilic infiltration of the esophagus	Kartais (5–29%)
Growths in inner lining of intestine	Kartais (5–29%)
Hepatocellular carcinoma	Kartais (5–29%)
Liver cancer	Kartais (5–29%)
Pancreatic adenocarcinoma	Kartais (5–29%)
Umbilical hernia	Kartais (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota

Abnormality of the musculoskeletal system

Trait	Kaip dažnai pasireiškia
Osteoporosis	Visada
Abnormality of connective tissue	Labai dažnai (80–99%)
Double-Jointed	Labai dažnai (80–99%)
Funnel chest	Labai dažnai (80–99%)
Abnormality of the sternum	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Permanent flexion of the finger or toe	Dažnai (30–79%)
Pigeon chest	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Spasticity and rigidity of muscles	Dažnai (30–79%)
Flexed joint that cannot be straightened	Kartais (5–29%)
Joint dislocation	Kartais (5–29%)
Skeletal tumor	Kartais (5–29%)
Displacement of one backbone compared to another	Neužfiksuota

Abnormality of limbs

Trait	Kaip dažnai pasireiškia
Clinodactyly of the 5th toe	Labai dažnai (80–99%)
Dropped arches	Labai dažnai (80–99%)
Club feet	Dažnai (30–79%)
Long slender fingers	Dažnai (30–79%)
Permanent flexion of the finger	Dažnai (30–79%)
Absent outermost hand bone	Kartais (5–29%)
Postaxial polydactyly	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Abnormally indented hip sockets	Neužfiksuota
Joint contracture of the hand	Neužfiksuota
Short fingers or toes	Neužfiksuota

Abnormality of head or neck

Trait	Kaip dažnai pasireiškia
Adenoma sebaceum	Labai dažnai (80–99%)
Bifid uvula	Labai dažnai (80–99%)
Cleft of the mouth	Dažnai (30–79%)
Cleft palate	Dažnai (30–79%)
Deformity of the skull	Dažnai (30–79%)
Little lower jaw	Dažnai (30–79%)
Receding chin	Dažnai (30–79%)
Zygomatic flattening	Dažnai (30–79%)
Cancer of salivary gland	Kartais (5–29%)
High, narrow palate	Kartais (5–29%)

Abnormality of the eye

Trait	Kaip dažnai pasireiškia
Wide-set eyes	Labai dažnai (80–99%)
Abnormality of the iris	Dažnai (30–79%)
Blue outer white part of eyeball	Dažnai (30–79%)
Bulging eye	Dažnai (30–79%)
Outward facing eye ball	Dažnai (30–79%)
Amaurosis fugax	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Partial loss of field of vision	Kartais (5–29%)
Visual impairment	Kartais (5–29%)

Abnormality of the integument

Trait	Kaip dažnai pasireiškia
Skin cancer	Labai dažnai (80–99%)
Atypical scarring of skin	Dažnai (30–79%)
Dermal translucency	Dažnai (30–79%)
Soft skin	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Basal cell carcinoma	Kartais (5–29%)
Thin skin	Kartais (5–29%)

Abnormality of the respiratory system

Trait	Kaip dažnai pasireiškia
Cough	Dažnai (30–79%)
Exertional breathlessness	Dažnai (30–79%)
Paroxysmal dyspnea	Dažnai (30–79%)
Collapsed lung	Kartais (5–29%)
Coughing up blood	Kartais (5–29%)
Laryngeal carcinoma	Kartais (5–29%)
Spontaneous collapsed lung	Kartais (5–29%)

Abnormality of the genitourinary system

Trait	Kaip dažnai pasireiškia
Uterine rupture	Labai dažnai (80–99%)
Endometrial carcinoma	Kartais (5–29%)
Kidney cancer	Kartais (5–29%)
Malignant genitourinary tract tumor	Kartais (5–29%)
Ovarian cancer	Kartais (5–29%)
Urinary tract neoplasm	Kartais (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kaip dažnai pasireiškia
Gastrointestinal bleeding	Labai dažnai (80–99%)
Bleeding tendency	Kartais (5–29%)
Blood tumor	Kartais (5–29%)
Bruising susceptibility	Kartais (5–29%)
Subarachnoid hemorrhage	Kartais (5–29%)

Growth abnormality

Trait	Kaip dažnai pasireiškia
Weight loss	Labai dažnai (80–99%)
Tall stature	Dažnai (30–79%)
Disproportionate tall stature	Kartais (5–29%)

Abnormality of the endocrine system

Trait	Kaip dažnai pasireiškia
Neoplasm of the thyroid gland	Kartais (5–29%)
Noncancerous tumor in pituitary gland	Kartais (5–29%)

Abnormality of the immune system

Trait	Kaip dažnai pasireiškia
Asthma	Dažnai (30–79%)
Eczema	Dažnai (30–79%)

Constitutional symptom

Trait	Kaip dažnai pasireiškia
Fatigue	Labai dažnai (80–99%)
Chest pain	Dažnai (30–79%)

Abnormality of the breast

Trait	Kaip dažnai pasireiškia
Breast cancer	Kartais (5–29%)

Abnormality of the voice

Trait	Kaip dažnai pasireiškia
Abnormality of the voice	Dažnai (30–79%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

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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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