Trăsături

Trăsături asociate cu GATA6

GATA binding protein 6

Human Phenotype Ontology asociază 120 trăsături cu GATA6, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Hole in center of heart	Întotdeauna
Muscular ventricular septal defect	Întotdeauna
Underdeveloped left heart	Întotdeauna
An opening in the wall separating the top two chambers of the heart	Foarte des (80–99%)
Hole in heart wall separating two lower heart chambers	Foarte des (80–99%)
Left-to-right shunt	Foarte des (80–99%)
Patent foramen ovale	Foarte des (80–99%)
Abnormal cardiovascular system morphology	Des (30–79%)
Fainting spell	Des (30–79%)
Palpitations	Des (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Des (30–79%)
Right atrial enlargement	Des (30–79%)
Secundum atrial septal defect	Des (30–79%)
Systolic heart murmur	Des (30–79%)
Tetralogy of Fallot	Des (30–79%)
Abnormal heart rate	Uneori (5–29%)
Abnormal left ventricular function	Uneori (5–29%)
Abnormal mitral valve morphology	Uneori (5–29%)
Aortic valve has two leaflets rather than three	Uneori (5–29%)
Atrial flutter	Uneori (5–29%)
Bundle branch block	Uneori (5–29%)
Cardiac failure	Uneori (5–29%)
Double outlet left ventricle	Uneori (5–29%)
First degree atrioventricular block	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Hypoplastic tricuspid valve	Uneori (5–29%)
Increased blood pressure in blood vessels of lungs	Uneori (5–29%)
Interrupted aortic arch	Uneori (5–29%)
Mitral regurgitation	Uneori (5–29%)
Narrowing of lung artery	Uneori (5–29%)
Narrowing of pulmonic valve	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)
Perimembranous ventricular septal defect	Uneori (5–29%)
Right ventricular dilatation	Uneori (5–29%)
Small right heart chamber	Uneori (5–29%)
ST segment depression	Uneori (5–29%)
Supraventricular arrhythmia	Uneori (5–29%)
Supraventricular tachycardia	Uneori (5–29%)
Total absence of the pericardium	Uneori (5–29%)
Transposition of the great arteries	Uneori (5–29%)
Tricuspid regurgitation	Uneori (5–29%)
Truncus arteriosus	Uneori (5–29%)
Congenital defect of the pericardium	Rar (1–4%)
Increased pulmonary vascular resistance	Rar (1–4%)
Mini stroke	Rar (1–4%)
Right ventricular failure	Rar (1–4%)
Stroke	Rar (1–4%)
Complete atrioventricular canal defect	Neînregistrat
Double outlet right ventricle	Neînregistrat
Narrowing of aorta	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Absent pancreas	Des (30–79%)
Feeding difficulties	Des (30–79%)
Intermittent diarrhea	Des (30–79%)
Intestinal malrotation	Des (30–79%)
Underdeveloped pancreas	Des (30–79%)
Absent gallbladder	Uneori (5–29%)
Biliary atresia	Uneori (5–29%)
Colon perforation	Uneori (5–29%)
Inguinal hernia	Uneori (5–29%)
Microcolon	Uneori (5–29%)
Umbilical hernia	Uneori (5–29%)
Absent/small gallbladder	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormal of nasal shape	Foarte des (80–99%)
Broad forehead	Foarte des (80–99%)
Decreased volume of lip	Des (30–79%)
Flattened bony protrusion above eyes	Des (30–79%)
Long, narrow head	Des (30–79%)
Pit in front of the ear	Des (30–79%)
Abnormally small head	Uneori (5–29%)
Mild microcephaly	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Breathing difficulties	Des (30–79%)
Breathing difficulty	Des (30–79%)
Exertional breathlessness	Des (30–79%)
Low blood oxygen level	Des (30–79%)
Poorly developed lungs	Des (30–79%)
Breathing dysregulation	Uneori (5–29%)
Orthopnea	Uneori (5–29%)
Obstructive lung disease	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Congenital diaphragmatic hernia	Foarte des (80–99%)
Absent/small diaprhagm	Des (30–79%)
Hernia	Des (30–79%)
Prominent sternum	Des (30–79%)
Aplasia of the left hemidiaphragm	Uneori (5–29%)
Cervical ribs	Uneori (5–29%)
Low muscle tone, in neonatal onset	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Foarte des (80–99%)
Short fingers or toes	Foarte des (80–99%)
Fluid accumulation in lower limbs	Uneori (5–29%)
Broad big toe	Neînregistrat
Postaxial polydactyly	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Neonatal insulin-dependent diabetes mellitus	Foarte des (80–99%)
Diabetes mellitus	Neînregistrat
Glucose in urine	Neînregistrat
High blood sugar	Neînregistrat
Laboratory abnormality	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Prolonged partial thromboplastin time	Uneori (5–29%)
Thromboembolic stroke	Uneori (5–29%)
Thromboembolism	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Global developmental delay	Des (30–79%)
Intellectual disability	Des (30–79%)
Epilepsy	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chest pain	Des (30–79%)
Decreased ability to exercise	Des (30–79%)
Fatigue	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Prenatal growth deficiency	Foarte des (80–99%)
Faltering weight	Des (30–79%)
Small for gestational age	Des (30–79%)

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
Low levels of amniotic fluid	Uneori (5–29%)
Only one artery in umbilical cord instead of two	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Underactive thyroid gland from birth	Uneori (5–29%)
Absent pituitary gland	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Des (30–79%)
Wide-set eyes	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Undescended testes	Des (30–79%)
Double ureter	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Pneumonia	Rar (1–4%)
Recurrent bacterial infections	Rar (1–4%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Dizziness	Des (30–79%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Blue discoloration of the skin	Rar (1–4%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu GATA6 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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