Kenmerken

Kenmerken gekoppeld aan TGFBR2

transforming growth factor beta receptor 2

De Human Phenotype Ontology koppelt 165 kenmerken aan TGFBR2, per lichaamssysteem: kenmerken die worden gezien bij mensen met een van de zeldzame aandoeningen van dit gen.

Abnormality of the cardiovascular system

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

Abnormality of the nervous system

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

Abnormality of the digestive system

Kenmerk	Hoe vaak het voorkomt
Inguinal hernia	Altijd
Abdominal pain	Heel vaak (80–99%)
Constipation	Heel vaak (80–99%)
Esophageal carcinoma	Heel vaak (80–99%)
Feeding difficulties in infancy	Heel vaak (80–99%)
Malabsorption	Heel vaak (80–99%)
Colon cancer	Vaak (30–79%)
Nausea and vomiting	Vaak (30–79%)
Rectal tumor	Vaak (30–79%)
Stomach tumor	Vaak (30–79%)
Cancer of the pancreas	Soms (5–29%)
Eosinophilic infiltration of the esophagus	Soms (5–29%)
Growths in inner lining of intestine	Soms (5–29%)
Hepatocellular carcinoma	Soms (5–29%)
Liver cancer	Soms (5–29%)
Pancreatic adenocarcinoma	Soms (5–29%)
Umbilical hernia	Soms (5–29%)
Hereditary nonpolyposis colorectal carcinoma	Niet vastgelegd

Abnormality of the musculoskeletal system

Kenmerk	Hoe vaak het voorkomt
Osteoporosis	Altijd
Abnormality of connective tissue	Heel vaak (80–99%)
Double-Jointed	Heel vaak (80–99%)
Funnel chest	Heel vaak (80–99%)
Abnormality of the sternum	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Permanent flexion of the finger or toe	Vaak (30–79%)
Pigeon chest	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
Spasticity and rigidity of muscles	Vaak (30–79%)
Flexed joint that cannot be straightened	Soms (5–29%)
Joint dislocation	Soms (5–29%)
Skeletal tumor	Soms (5–29%)
Displacement of one backbone compared to another	Niet vastgelegd

Abnormality of limbs

Kenmerk	Hoe vaak het voorkomt
Clinodactyly of the 5th toe	Heel vaak (80–99%)
Dropped arches	Heel vaak (80–99%)
Club feet	Vaak (30–79%)
Long slender fingers	Vaak (30–79%)
Permanent flexion of the finger	Vaak (30–79%)
Absent outermost hand bone	Soms (5–29%)
Postaxial polydactyly	Soms (5–29%)
Webbed fingers or toes	Soms (5–29%)
Abnormally indented hip sockets	Niet vastgelegd
Joint contracture of the hand	Niet vastgelegd
Short fingers or toes	Niet vastgelegd

Abnormality of head or neck

Kenmerk	Hoe vaak het voorkomt
Adenoma sebaceum	Heel vaak (80–99%)
Bifid uvula	Heel vaak (80–99%)
Cleft of the mouth	Vaak (30–79%)
Cleft palate	Vaak (30–79%)
Deformity of the skull	Vaak (30–79%)
Little lower jaw	Vaak (30–79%)
Receding chin	Vaak (30–79%)
Zygomatic flattening	Vaak (30–79%)
Cancer of salivary gland	Soms (5–29%)
High, narrow palate	Soms (5–29%)

Abnormality of the eye

Kenmerk	Hoe vaak het voorkomt
Wide-set eyes	Heel vaak (80–99%)
Abnormality of the iris	Vaak (30–79%)
Blue outer white part of eyeball	Vaak (30–79%)
Bulging eye	Vaak (30–79%)
Outward facing eye ball	Vaak (30–79%)
Amaurosis fugax	Soms (5–29%)
Close sighted	Soms (5–29%)
Partial loss of field of vision	Soms (5–29%)
Visual impairment	Soms (5–29%)

Abnormality of the integument

Kenmerk	Hoe vaak het voorkomt
Skin cancer	Heel vaak (80–99%)
Atypical scarring of skin	Vaak (30–79%)
Dermal translucency	Vaak (30–79%)
Soft skin	Vaak (30–79%)
Stretch marks	Vaak (30–79%)
Basal cell carcinoma	Soms (5–29%)
Thin skin	Soms (5–29%)

Abnormality of the respiratory system

Kenmerk	Hoe vaak het voorkomt
Cough	Vaak (30–79%)
Exertional breathlessness	Vaak (30–79%)
Paroxysmal dyspnea	Vaak (30–79%)
Collapsed lung	Soms (5–29%)
Coughing up blood	Soms (5–29%)
Laryngeal carcinoma	Soms (5–29%)
Spontaneous collapsed lung	Soms (5–29%)

Abnormality of the genitourinary system

Kenmerk	Hoe vaak het voorkomt
Uterine rupture	Heel vaak (80–99%)
Endometrial carcinoma	Soms (5–29%)
Kidney cancer	Soms (5–29%)
Malignant genitourinary tract tumor	Soms (5–29%)
Ovarian cancer	Soms (5–29%)
Urinary tract neoplasm	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Kenmerk	Hoe vaak het voorkomt
Gastrointestinal bleeding	Heel vaak (80–99%)
Bleeding tendency	Soms (5–29%)
Blood tumor	Soms (5–29%)
Bruising susceptibility	Soms (5–29%)
Subarachnoid hemorrhage	Soms (5–29%)

Growth abnormality

Kenmerk	Hoe vaak het voorkomt
Weight loss	Heel vaak (80–99%)
Tall stature	Vaak (30–79%)
Disproportionate tall stature	Soms (5–29%)

Abnormality of the endocrine system

Kenmerk	Hoe vaak het voorkomt
Neoplasm of the thyroid gland	Soms (5–29%)
Noncancerous tumor in pituitary gland	Soms (5–29%)

Abnormality of the immune system

Kenmerk	Hoe vaak het voorkomt
Asthma	Vaak (30–79%)
Eczema	Vaak (30–79%)

Constitutional symptom

Kenmerk	Hoe vaak het voorkomt
Fatigue	Heel vaak (80–99%)
Chest pain	Vaak (30–79%)

Abnormality of the breast

Kenmerk	Hoe vaak het voorkomt
Breast cancer	Soms (5–29%)

Abnormality of the voice

Kenmerk	Hoe vaak het voorkomt
Abnormality of the voice	Vaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

De Human Phenotype Ontology, versie 2026-09-01: de aan TGFBR2 gekoppelde kenmerken en hoe vaak elk voorkomt. Meer informatie vindt u op hpo.jax.org.

Eén test. Een leven lang antwoorden.

Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken

Mijn Genome Test bestellen