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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Kui sageli seda täheldatakse
Inguinal hernia	Alati
Abdominal pain	Väga sageli (80–99%)
Constipation	Väga sageli (80–99%)
Esophageal carcinoma	Väga sageli (80–99%)
Feeding difficulties in infancy	Väga sageli (80–99%)
Malabsorption	Väga sageli (80–99%)
Colon cancer	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Rectal tumor	Sageli (30–79%)
Stomach tumor	Sageli (30–79%)
Cancer of the pancreas	Mõnikord (5–29%)
Eosinophilic infiltration of the esophagus	Mõnikord (5–29%)
Growths in inner lining of intestine	Mõnikord (5–29%)
Hepatocellular carcinoma	Mõnikord (5–29%)
Liver cancer	Mõnikord (5–29%)
Pancreatic adenocarcinoma	Mõnikord (5–29%)
Umbilical hernia	Mõnikord (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud

Abnormality of the musculoskeletal system

Trait	Kui sageli seda täheldatakse
Osteoporosis	Alati
Abnormality of connective tissue	Väga sageli (80–99%)
Double-Jointed	Väga sageli (80–99%)
Funnel chest	Väga sageli (80–99%)
Abnormality of the sternum	Sageli (30–79%)
Low muscle tone	Sageli (30–79%)
Permanent flexion of the finger or toe	Sageli (30–79%)
Pigeon chest	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Spasticity and rigidity of muscles	Sageli (30–79%)
Flexed joint that cannot be straightened	Mõnikord (5–29%)
Joint dislocation	Mõnikord (5–29%)
Skeletal tumor	Mõnikord (5–29%)
Displacement of one backbone compared to another	Pole registreeritud

Abnormality of limbs

Trait	Kui sageli seda täheldatakse
Clinodactyly of the 5th toe	Väga sageli (80–99%)
Dropped arches	Väga sageli (80–99%)
Club feet	Sageli (30–79%)
Long slender fingers	Sageli (30–79%)
Permanent flexion of the finger	Sageli (30–79%)
Absent outermost hand bone	Mõnikord (5–29%)
Postaxial polydactyly	Mõnikord (5–29%)
Webbed fingers or toes	Mõnikord (5–29%)
Abnormally indented hip sockets	Pole registreeritud
Joint contracture of the hand	Pole registreeritud
Short fingers or toes	Pole registreeritud

Abnormality of head or neck

Trait	Kui sageli seda täheldatakse
Adenoma sebaceum	Väga sageli (80–99%)
Bifid uvula	Väga sageli (80–99%)
Cleft of the mouth	Sageli (30–79%)
Cleft palate	Sageli (30–79%)
Deformity of the skull	Sageli (30–79%)
Little lower jaw	Sageli (30–79%)
Receding chin	Sageli (30–79%)
Zygomatic flattening	Sageli (30–79%)
Cancer of salivary gland	Mõnikord (5–29%)
High, narrow palate	Mõnikord (5–29%)

Abnormality of the eye

Trait	Kui sageli seda täheldatakse
Wide-set eyes	Väga sageli (80–99%)
Abnormality of the iris	Sageli (30–79%)
Blue outer white part of eyeball	Sageli (30–79%)
Bulging eye	Sageli (30–79%)
Outward facing eye ball	Sageli (30–79%)
Amaurosis fugax	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Partial loss of field of vision	Mõnikord (5–29%)
Visual impairment	Mõnikord (5–29%)

Abnormality of the integument

Trait	Kui sageli seda täheldatakse
Skin cancer	Väga sageli (80–99%)
Atypical scarring of skin	Sageli (30–79%)
Dermal translucency	Sageli (30–79%)
Soft skin	Sageli (30–79%)
Stretch marks	Sageli (30–79%)
Basal cell carcinoma	Mõnikord (5–29%)
Thin skin	Mõnikord (5–29%)

Abnormality of the respiratory system

Trait	Kui sageli seda täheldatakse
Cough	Sageli (30–79%)
Exertional breathlessness	Sageli (30–79%)
Paroxysmal dyspnea	Sageli (30–79%)
Collapsed lung	Mõnikord (5–29%)
Coughing up blood	Mõnikord (5–29%)
Laryngeal carcinoma	Mõnikord (5–29%)
Spontaneous collapsed lung	Mõnikord (5–29%)

Abnormality of the genitourinary system

Trait	Kui sageli seda täheldatakse
Uterine rupture	Väga sageli (80–99%)
Endometrial carcinoma	Mõnikord (5–29%)
Kidney cancer	Mõnikord (5–29%)
Malignant genitourinary tract tumor	Mõnikord (5–29%)
Ovarian cancer	Mõnikord (5–29%)
Urinary tract neoplasm	Mõnikord (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Kui sageli seda täheldatakse
Gastrointestinal bleeding	Väga sageli (80–99%)
Bleeding tendency	Mõnikord (5–29%)
Blood tumor	Mõnikord (5–29%)
Bruising susceptibility	Mõnikord (5–29%)
Subarachnoid hemorrhage	Mõnikord (5–29%)

Growth abnormality

Trait	Kui sageli seda täheldatakse
Weight loss	Väga sageli (80–99%)
Tall stature	Sageli (30–79%)
Disproportionate tall stature	Mõnikord (5–29%)

Abnormality of the endocrine system

Trait	Kui sageli seda täheldatakse
Neoplasm of the thyroid gland	Mõnikord (5–29%)
Noncancerous tumor in pituitary gland	Mõnikord (5–29%)

Abnormality of the immune system

Trait	Kui sageli seda täheldatakse
Asthma	Sageli (30–79%)
Eczema	Sageli (30–79%)

Constitutional symptom

Trait	Kui sageli seda täheldatakse
Fatigue	Väga sageli (80–99%)
Chest pain	Sageli (30–79%)

Abnormality of the breast

Trait	Kui sageli seda täheldatakse
Breast cancer	Mõnikord (5–29%)

Abnormality of the voice

Trait	Kui sageli seda täheldatakse
Abnormality of the voice	Sageli (30–79%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

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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