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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Ne sıklıkla görüldüğü
Inguinal hernia	Her zaman
Abdominal pain	Çok sık (%80–99)
Constipation	Çok sık (%80–99)
Esophageal carcinoma	Çok sık (%80–99)
Feeding difficulties in infancy	Çok sık (%80–99)
Malabsorption	Çok sık (%80–99)
Colon cancer	Sık (%30–79)
Nausea and vomiting	Sık (%30–79)
Rectal tumor	Sık (%30–79)
Stomach tumor	Sık (%30–79)
Cancer of the pancreas	Bazen (%5–29)
Eosinophilic infiltration of the esophagus	Bazen (%5–29)
Growths in inner lining of intestine	Bazen (%5–29)
Hepatocellular carcinoma	Bazen (%5–29)
Liver cancer	Bazen (%5–29)
Pancreatic adenocarcinoma	Bazen (%5–29)
Umbilical hernia	Bazen (%5–29)
Hereditary nonpolyposis colorectal carcinoma	Kaydedilmedi

Abnormality of the musculoskeletal system

Trait	Ne sıklıkla görüldüğü
Osteoporosis	Her zaman
Abnormality of connective tissue	Çok sık (%80–99)
Double-Jointed	Çok sık (%80–99)
Funnel chest	Çok sık (%80–99)
Abnormality of the sternum	Sık (%30–79)
Low muscle tone	Sık (%30–79)
Permanent flexion of the finger or toe	Sık (%30–79)
Pigeon chest	Sık (%30–79)
Scoliosis	Sık (%30–79)
Spasticity and rigidity of muscles	Sık (%30–79)
Flexed joint that cannot be straightened	Bazen (%5–29)
Joint dislocation	Bazen (%5–29)
Skeletal tumor	Bazen (%5–29)
Displacement of one backbone compared to another	Kaydedilmedi

Abnormality of limbs

Trait	Ne sıklıkla görüldüğü
Clinodactyly of the 5th toe	Çok sık (%80–99)
Dropped arches	Çok sık (%80–99)
Club feet	Sık (%30–79)
Long slender fingers	Sık (%30–79)
Permanent flexion of the finger	Sık (%30–79)
Absent outermost hand bone	Bazen (%5–29)
Postaxial polydactyly	Bazen (%5–29)
Webbed fingers or toes	Bazen (%5–29)
Abnormally indented hip sockets	Kaydedilmedi
Joint contracture of the hand	Kaydedilmedi
Short fingers or toes	Kaydedilmedi

Abnormality of head or neck

Trait	Ne sıklıkla görüldüğü
Adenoma sebaceum	Çok sık (%80–99)
Bifid uvula	Çok sık (%80–99)
Cleft of the mouth	Sık (%30–79)
Cleft palate	Sık (%30–79)
Deformity of the skull	Sık (%30–79)
Little lower jaw	Sık (%30–79)
Receding chin	Sık (%30–79)
Zygomatic flattening	Sık (%30–79)
Cancer of salivary gland	Bazen (%5–29)
High, narrow palate	Bazen (%5–29)

Abnormality of the eye

Trait	Ne sıklıkla görüldüğü
Wide-set eyes	Çok sık (%80–99)
Abnormality of the iris	Sık (%30–79)
Blue outer white part of eyeball	Sık (%30–79)
Bulging eye	Sık (%30–79)
Outward facing eye ball	Sık (%30–79)
Amaurosis fugax	Bazen (%5–29)
Close sighted	Bazen (%5–29)
Partial loss of field of vision	Bazen (%5–29)
Visual impairment	Bazen (%5–29)

Abnormality of the integument

Trait	Ne sıklıkla görüldüğü
Skin cancer	Çok sık (%80–99)
Atypical scarring of skin	Sık (%30–79)
Dermal translucency	Sık (%30–79)
Soft skin	Sık (%30–79)
Stretch marks	Sık (%30–79)
Basal cell carcinoma	Bazen (%5–29)
Thin skin	Bazen (%5–29)

Abnormality of the respiratory system

Trait	Ne sıklıkla görüldüğü
Cough	Sık (%30–79)
Exertional breathlessness	Sık (%30–79)
Paroxysmal dyspnea	Sık (%30–79)
Collapsed lung	Bazen (%5–29)
Coughing up blood	Bazen (%5–29)
Laryngeal carcinoma	Bazen (%5–29)
Spontaneous collapsed lung	Bazen (%5–29)

Abnormality of the genitourinary system

Trait	Ne sıklıkla görüldüğü
Uterine rupture	Çok sık (%80–99)
Endometrial carcinoma	Bazen (%5–29)
Kidney cancer	Bazen (%5–29)
Malignant genitourinary tract tumor	Bazen (%5–29)
Ovarian cancer	Bazen (%5–29)
Urinary tract neoplasm	Bazen (%5–29)

Abnormality of blood and blood-forming tissues

Trait	Ne sıklıkla görüldüğü
Gastrointestinal bleeding	Çok sık (%80–99)
Bleeding tendency	Bazen (%5–29)
Blood tumor	Bazen (%5–29)
Bruising susceptibility	Bazen (%5–29)
Subarachnoid hemorrhage	Bazen (%5–29)

Growth abnormality

Trait	Ne sıklıkla görüldüğü
Weight loss	Çok sık (%80–99)
Tall stature	Sık (%30–79)
Disproportionate tall stature	Bazen (%5–29)

Abnormality of the endocrine system

Trait	Ne sıklıkla görüldüğü
Neoplasm of the thyroid gland	Bazen (%5–29)
Noncancerous tumor in pituitary gland	Bazen (%5–29)

Abnormality of the immune system

Trait	Ne sıklıkla görüldüğü
Asthma	Sık (%30–79)
Eczema	Sık (%30–79)

Constitutional symptom

Trait	Ne sıklıkla görüldüğü
Fatigue	Çok sık (%80–99)
Chest pain	Sık (%30–79)

Abnormality of the breast

Trait	Ne sıklıkla görüldüğü
Breast cancer	Bazen (%5–29)

Abnormality of the voice

Trait	Ne sıklıkla görüldüğü
Abnormality of the voice	Sık (%30–79)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

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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