Požymiai

Su TBX5 susiję požymiai

T-box transcription factor 5

Žmogaus fenotipo ontologija sieja 116 požymių su TBX5, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Absent 1st long bone of hand	Visada
Absent index finger	Visada
Absent middle finger	Visada
Absent outermost bone of the 4th toe	Visada
Attachment of thumb close to wrist	Visada
Bowing of outer large bone of the forearm	Visada
Curvature of little finger	Visada
Curved thumb deviated towards palm	Visada
Curving of inner forearm bone	Visada
Distally placed thumb	Visada
Duplication of the outermost bone of the 3rd toe	Visada
Elbow dislocation	Visada
Fused forearm bones	Visada
Hand monodactyly	Visada
Hypoplasia of deltoid muscle	Visada
Limited pronation/supination of forearm	Visada
Radial deviation of the hand	Visada
Short forearm	Visada
Short middle bone of index finger	Visada
Short middle bone of the little finger	Visada
Shortened 1st long bone of hand	Visada
Single transverse palmar crease	Visada
Small hypothenar eminence	Visada
Upper limb undergrowth	Visada
Webbed 1st-2nd finger	Visada
Webbed 2nd-3rd fingers	Visada
Y-shaped metatarsals	Visada
Abnormal wrist bones	Labai dažnai (80–99%)
Split hand	Labai dažnai (80–99%)
3-4 finger cutaneous syndactyly	Dažnai (30–79%)
Abnormal shape of long bones of hand	Dažnai (30–79%)
Absent thumb	Dažnai (30–79%)
Aplasia of the pectoralis major muscle	Dažnai (30–79%)
Aplasia/Hypoplasia of the radius	Dažnai (30–79%)
Curvature of finger	Dažnai (30–79%)
Extra little finger	Dažnai (30–79%)
Finger-like thumb	Dažnai (30–79%)
Limited elbow extension	Dažnai (30–79%)
Short digit	Dažnai (30–79%)
Short humerus	Dažnai (30–79%)
Short thumb	Dažnai (30–79%)
Small thenar eminence	Dažnai (30–79%)
Underdeveloped inner large forearm bone	Dažnai (30–79%)
Underdeveloped outer large forearm bone	Dažnai (30–79%)
Abnormal humerus morphology	Kartais (5–29%)
Aplasia of the ulna	Kartais (5–29%)
Broad thumb	Kartais (5–29%)
Finger syndactyly	Kartais (5–29%)
Missing outer large bone of forearm	Kartais (5–29%)
Phocomelia	Kartais (5–29%)
Upper limb phocomelia	Kartais (5–29%)
Webbed fingers or toes	Kartais (5–29%)
Amelia involving the upper limbs	Retai (1–4 %)
Partial duplication of the thumb bones	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Abnormal coronary artery origin	Visada
Atrial septal dilatation	Visada
Atrioventricular dissociation	Visada
Complete heart block	Visada
Cor triatriatum sinister	Visada
Double outlet right ventricle	Visada
First degree atrioventricular block	Visada
Mitral regurgitation	Visada
Mitral valve prolapse	Visada
Narrowing of pulmonic valve	Visada
Right atrial enlargement	Visada
Sinus bradycardia	Visada
Sinus venosus atrial septal defect	Visada
Small right heart chamber	Visada
Tricuspid regurgitation	Visada
Tricuspid valve prolapse	Visada
Ventricular tachycardia	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
An opening in the wall separating the top two chambers of the heart	Labai dažnai (80–99%)
Cardiac conduction abnormality	Dažnai (30–79%)
Hole in heart wall separating two lower heart chambers	Dažnai (30–79%)
Increased blood pressure in blood vessels of lungs	Dažnai (30–79%)
Interruption of electrical communication between upper and lower chambers of heart	Dažnai (30–79%)
Paroxysmal atrial fibrillation	Dažnai (30–79%)
Secundum atrial septal defect	Dažnai (30–79%)
Abnormal aortic morphology	Kartais (5–29%)
Anomalous pulmonary venous return	Kartais (5–29%)
Complete atrioventricular canal defect	Kartais (5–29%)
Hole in center of heart	Kartais (5–29%)
Left ventricular noncompaction cardiomyopathy	Kartais (5–29%)
Muscular ventricular septal defect	Kartais (5–29%)
Patent ductus arteriosus	Kartais (5–29%)
Perimembranous ventricular septal defect	Kartais (5–29%)
Persistent left superior vena cava	Kartais (5–29%)
Underdeveloped left heart	Kartais (5–29%)
Common atrium	Retai (1–4 %)
Coronary sinus atrial septal defect	Retai (1–4 %)
Patent foramen ovale	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
11 pairs of ribs	Visada
Cervical C2/C3 vertebral fusion	Visada
Narrow chest	Visada
Rounded shoulders	Visada
Shield chest	Visada
Shoulder dislocation	Visada
Small shoulder blade	Visada
Abnormal collarbone	Labai dažnai (80–99%)
Joint stiffness	Labai dažnai (80–99%)
Funnel chest	Dažnai (30–79%)
Hunched back	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Short collarbone	Dažnai (30–79%)
Abnormality of the ribs	Kartais (5–29%)
High shoulder blade	Kartais (5–29%)
Thoracic scoliosis	Neužfiksuota

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Cleft soft palate	Visada
High palate	Visada
Little lower jaw	Visada
Long philtrum	Visada
Long, narrow head	Visada
Short neck	Visada

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Abdominal situs inversus	Visada

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Spinal dimple	Visada

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su TBX5 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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