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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Kuinka usein sitä esiintyy
Inguinal hernia	Aina
Abdominal pain	Hyvin usein (80–99%)
Constipation	Hyvin usein (80–99%)
Esophageal carcinoma	Hyvin usein (80–99%)
Feeding difficulties in infancy	Hyvin usein (80–99%)
Malabsorption	Hyvin usein (80–99%)
Colon cancer	Usein (30–79%)
Nausea and vomiting	Usein (30–79%)
Rectal tumor	Usein (30–79%)
Stomach tumor	Usein (30–79%)
Cancer of the pancreas	Joskus (5–29%)
Eosinophilic infiltration of the esophagus	Joskus (5–29%)
Growths in inner lining of intestine	Joskus (5–29%)
Hepatocellular carcinoma	Joskus (5–29%)
Liver cancer	Joskus (5–29%)
Pancreatic adenocarcinoma	Joskus (5–29%)
Umbilical hernia	Joskus (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Ei kirjattu

Abnormality of the musculoskeletal system

Trait	Kuinka usein sitä esiintyy
Osteoporosis	Aina
Abnormality of connective tissue	Hyvin usein (80–99%)
Double-Jointed	Hyvin usein (80–99%)
Funnel chest	Hyvin usein (80–99%)
Abnormality of the sternum	Usein (30–79%)
Low muscle tone	Usein (30–79%)
Permanent flexion of the finger or toe	Usein (30–79%)
Pigeon chest	Usein (30–79%)
Scoliosis	Usein (30–79%)
Spasticity and rigidity of muscles	Usein (30–79%)
Flexed joint that cannot be straightened	Joskus (5–29%)
Joint dislocation	Joskus (5–29%)
Skeletal tumor	Joskus (5–29%)
Displacement of one backbone compared to another	Ei kirjattu

Abnormality of limbs

Trait	Kuinka usein sitä esiintyy
Clinodactyly of the 5th toe	Hyvin usein (80–99%)
Dropped arches	Hyvin usein (80–99%)
Club feet	Usein (30–79%)
Long slender fingers	Usein (30–79%)
Permanent flexion of the finger	Usein (30–79%)
Absent outermost hand bone	Joskus (5–29%)
Postaxial polydactyly	Joskus (5–29%)
Webbed fingers or toes	Joskus (5–29%)
Abnormally indented hip sockets	Ei kirjattu
Joint contracture of the hand	Ei kirjattu
Short fingers or toes	Ei kirjattu

Abnormality of head or neck

Trait	Kuinka usein sitä esiintyy
Adenoma sebaceum	Hyvin usein (80–99%)
Bifid uvula	Hyvin usein (80–99%)
Cleft of the mouth	Usein (30–79%)
Cleft palate	Usein (30–79%)
Deformity of the skull	Usein (30–79%)
Little lower jaw	Usein (30–79%)
Receding chin	Usein (30–79%)
Zygomatic flattening	Usein (30–79%)
Cancer of salivary gland	Joskus (5–29%)
High, narrow palate	Joskus (5–29%)

Abnormality of the eye

Trait	Kuinka usein sitä esiintyy
Wide-set eyes	Hyvin usein (80–99%)
Abnormality of the iris	Usein (30–79%)
Blue outer white part of eyeball	Usein (30–79%)
Bulging eye	Usein (30–79%)
Outward facing eye ball	Usein (30–79%)
Amaurosis fugax	Joskus (5–29%)
Close sighted	Joskus (5–29%)
Partial loss of field of vision	Joskus (5–29%)
Visual impairment	Joskus (5–29%)

Abnormality of the integument

Trait	Kuinka usein sitä esiintyy
Skin cancer	Hyvin usein (80–99%)
Atypical scarring of skin	Usein (30–79%)
Dermal translucency	Usein (30–79%)
Soft skin	Usein (30–79%)
Stretch marks	Usein (30–79%)
Basal cell carcinoma	Joskus (5–29%)
Thin skin	Joskus (5–29%)

Abnormality of the respiratory system

Trait	Kuinka usein sitä esiintyy
Cough	Usein (30–79%)
Exertional breathlessness	Usein (30–79%)
Paroxysmal dyspnea	Usein (30–79%)
Collapsed lung	Joskus (5–29%)
Coughing up blood	Joskus (5–29%)
Laryngeal carcinoma	Joskus (5–29%)
Spontaneous collapsed lung	Joskus (5–29%)

Abnormality of the genitourinary system

Trait	Kuinka usein sitä esiintyy
Uterine rupture	Hyvin usein (80–99%)
Endometrial carcinoma	Joskus (5–29%)
Kidney cancer	Joskus (5–29%)
Malignant genitourinary tract tumor	Joskus (5–29%)
Ovarian cancer	Joskus (5–29%)
Urinary tract neoplasm	Joskus (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kuinka usein sitä esiintyy
Gastrointestinal bleeding	Hyvin usein (80–99%)
Bleeding tendency	Joskus (5–29%)
Blood tumor	Joskus (5–29%)
Bruising susceptibility	Joskus (5–29%)
Subarachnoid hemorrhage	Joskus (5–29%)

Growth abnormality

Trait	Kuinka usein sitä esiintyy
Weight loss	Hyvin usein (80–99%)
Tall stature	Usein (30–79%)
Disproportionate tall stature	Joskus (5–29%)

Abnormality of the endocrine system

Trait	Kuinka usein sitä esiintyy
Neoplasm of the thyroid gland	Joskus (5–29%)
Noncancerous tumor in pituitary gland	Joskus (5–29%)

Abnormality of the immune system

Trait	Kuinka usein sitä esiintyy
Asthma	Usein (30–79%)
Eczema	Usein (30–79%)

Constitutional symptom

Trait	Kuinka usein sitä esiintyy
Fatigue	Hyvin usein (80–99%)
Chest pain	Usein (30–79%)

Abnormality of the breast

Trait	Kuinka usein sitä esiintyy
Breast cancer	Joskus (5–29%)

Abnormality of the voice

Trait	Kuinka usein sitä esiintyy
Abnormality of the voice	Usein (30–79%)

Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.

Mistä tämä tieto tulee

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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