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

Abnormality of the nervous system

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

Abnormality of the digestive system

Trait	Hvor ofte det ses
Inguinal hernia	Altid
Abdominal pain	Meget ofte (80–99 %)
Constipation	Meget ofte (80–99 %)
Esophageal carcinoma	Meget ofte (80–99 %)
Feeding difficulties in infancy	Meget ofte (80–99 %)
Malabsorption	Meget ofte (80–99 %)
Colon cancer	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Rectal tumor	Ofte (30–79 %)
Stomach tumor	Ofte (30–79 %)
Cancer of the pancreas	Nogle gange (5–29 %)
Eosinophilic infiltration of the esophagus	Nogle gange (5–29 %)
Growths in inner lining of intestine	Nogle gange (5–29 %)
Hepatocellular carcinoma	Nogle gange (5–29 %)
Liver cancer	Nogle gange (5–29 %)
Pancreatic adenocarcinoma	Nogle gange (5–29 %)
Umbilical hernia	Nogle gange (5–29 %)
Hereditary nonpolyposis colorectal carcinoma	Ikke registreret

Abnormality of the musculoskeletal system

Trait	Hvor ofte det ses
Osteoporosis	Altid
Abnormality of connective tissue	Meget ofte (80–99 %)
Double-Jointed	Meget ofte (80–99 %)
Funnel chest	Meget ofte (80–99 %)
Abnormality of the sternum	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Permanent flexion of the finger or toe	Ofte (30–79 %)
Pigeon chest	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
Spasticity and rigidity of muscles	Ofte (30–79 %)
Flexed joint that cannot be straightened	Nogle gange (5–29 %)
Joint dislocation	Nogle gange (5–29 %)
Skeletal tumor	Nogle gange (5–29 %)
Displacement of one backbone compared to another	Ikke registreret

Abnormality of limbs

Trait	Hvor ofte det ses
Clinodactyly of the 5th toe	Meget ofte (80–99 %)
Dropped arches	Meget ofte (80–99 %)
Club feet	Ofte (30–79 %)
Long slender fingers	Ofte (30–79 %)
Permanent flexion of the finger	Ofte (30–79 %)
Absent outermost hand bone	Nogle gange (5–29 %)
Postaxial polydactyly	Nogle gange (5–29 %)
Webbed fingers or toes	Nogle gange (5–29 %)
Abnormally indented hip sockets	Ikke registreret
Joint contracture of the hand	Ikke registreret
Short fingers or toes	Ikke registreret

Abnormality of head or neck

Trait	Hvor ofte det ses
Adenoma sebaceum	Meget ofte (80–99 %)
Bifid uvula	Meget ofte (80–99 %)
Cleft of the mouth	Ofte (30–79 %)
Cleft palate	Ofte (30–79 %)
Deformity of the skull	Ofte (30–79 %)
Little lower jaw	Ofte (30–79 %)
Receding chin	Ofte (30–79 %)
Zygomatic flattening	Ofte (30–79 %)
Cancer of salivary gland	Nogle gange (5–29 %)
High, narrow palate	Nogle gange (5–29 %)

Abnormality of the eye

Trait	Hvor ofte det ses
Wide-set eyes	Meget ofte (80–99 %)
Abnormality of the iris	Ofte (30–79 %)
Blue outer white part of eyeball	Ofte (30–79 %)
Bulging eye	Ofte (30–79 %)
Outward facing eye ball	Ofte (30–79 %)
Amaurosis fugax	Nogle gange (5–29 %)
Close sighted	Nogle gange (5–29 %)
Partial loss of field of vision	Nogle gange (5–29 %)
Visual impairment	Nogle gange (5–29 %)

Abnormality of the integument

Trait	Hvor ofte det ses
Skin cancer	Meget ofte (80–99 %)
Atypical scarring of skin	Ofte (30–79 %)
Dermal translucency	Ofte (30–79 %)
Soft skin	Ofte (30–79 %)
Stretch marks	Ofte (30–79 %)
Basal cell carcinoma	Nogle gange (5–29 %)
Thin skin	Nogle gange (5–29 %)

Abnormality of the respiratory system

Trait	Hvor ofte det ses
Cough	Ofte (30–79 %)
Exertional breathlessness	Ofte (30–79 %)
Paroxysmal dyspnea	Ofte (30–79 %)
Collapsed lung	Nogle gange (5–29 %)
Coughing up blood	Nogle gange (5–29 %)
Laryngeal carcinoma	Nogle gange (5–29 %)
Spontaneous collapsed lung	Nogle gange (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte det ses
Uterine rupture	Meget ofte (80–99 %)
Endometrial carcinoma	Nogle gange (5–29 %)
Kidney cancer	Nogle gange (5–29 %)
Malignant genitourinary tract tumor	Nogle gange (5–29 %)
Ovarian cancer	Nogle gange (5–29 %)
Urinary tract neoplasm	Nogle gange (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte det ses
Gastrointestinal bleeding	Meget ofte (80–99 %)
Bleeding tendency	Nogle gange (5–29 %)
Blood tumor	Nogle gange (5–29 %)
Bruising susceptibility	Nogle gange (5–29 %)
Subarachnoid hemorrhage	Nogle gange (5–29 %)

Growth abnormality

Trait	Hvor ofte det ses
Weight loss	Meget ofte (80–99 %)
Tall stature	Ofte (30–79 %)
Disproportionate tall stature	Nogle gange (5–29 %)

Abnormality of the endocrine system

Trait	Hvor ofte det ses
Neoplasm of the thyroid gland	Nogle gange (5–29 %)
Noncancerous tumor in pituitary gland	Nogle gange (5–29 %)

Abnormality of the immune system

Trait	Hvor ofte det ses
Asthma	Ofte (30–79 %)
Eczema	Ofte (30–79 %)

Constitutional symptom

Trait	Hvor ofte det ses
Fatigue	Meget ofte (80–99 %)
Chest pain	Ofte (30–79 %)

Abnormality of the breast

Trait	Hvor ofte det ses
Breast cancer	Nogle gange (5–29 %)

Abnormality of the voice

Trait	Hvor ofte det ses
Abnormality of the voice	Ofte (30–79 %)

Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.

Hvor oplysningerne kommer fra

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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