Traits

Traits linked to GATA6

GATA binding protein 6

The Human Phenotype Ontology links 120 traits to GATA6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

Trait	How often it is seen
Hole in center of heart	Always
Muscular ventricular septal defect	Always
Underdeveloped left heart	Always
An opening in the wall separating the top two chambers of the heart	Very often (80–99%)
Hole in heart wall separating two lower heart chambers	Very often (80–99%)
Left-to-right shunt	Very often (80–99%)
Patent foramen ovale	Very often (80–99%)
Abnormal cardiovascular system morphology	Often (30–79%)
Fainting spell	Often (30–79%)
Palpitations	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Secundum atrial septal defect	Often (30–79%)
Systolic heart murmur	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Abnormal heart rate	Sometimes (5–29%)
Abnormal left ventricular function	Sometimes (5–29%)
Abnormal mitral valve morphology	Sometimes (5–29%)
Aortic valve has two leaflets rather than three	Sometimes (5–29%)
Atrial flutter	Sometimes (5–29%)
Bundle branch block	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Double outlet left ventricle	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Hypoplastic tricuspid valve	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Interrupted aortic arch	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Narrowing of lung artery	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Perimembranous ventricular septal defect	Sometimes (5–29%)
Right ventricular dilatation	Sometimes (5–29%)
Small right heart chamber	Sometimes (5–29%)
ST segment depression	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Total absence of the pericardium	Sometimes (5–29%)
Transposition of the great arteries	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Truncus arteriosus	Sometimes (5–29%)
Congenital defect of the pericardium	Rarely (1–4%)
Increased pulmonary vascular resistance	Rarely (1–4%)
Mini stroke	Rarely (1–4%)
Right ventricular failure	Rarely (1–4%)
Stroke	Rarely (1–4%)
Complete atrioventricular canal defect	Not recorded
Double outlet right ventricle	Not recorded
Narrowing of aorta	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Inability to properly digest food due to lack of pancreatic digestive enzymes	Very often (80–99%)
Absent pancreas	Often (30–79%)
Feeding difficulties	Often (30–79%)
Intermittent diarrhea	Often (30–79%)
Intestinal malrotation	Often (30–79%)
Underdeveloped pancreas	Often (30–79%)
Absent gallbladder	Sometimes (5–29%)
Biliary atresia	Sometimes (5–29%)
Colon perforation	Sometimes (5–29%)
Inguinal hernia	Sometimes (5–29%)
Microcolon	Sometimes (5–29%)
Umbilical hernia	Sometimes (5–29%)
Absent/small gallbladder	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Abnormal of nasal shape	Very often (80–99%)
Broad forehead	Very often (80–99%)
Decreased volume of lip	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
Long, narrow head	Often (30–79%)
Pit in front of the ear	Often (30–79%)
Abnormally small head	Sometimes (5–29%)
Mild microcephaly	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Often (30–79%)
Breathing difficulty	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Low blood oxygen level	Often (30–79%)
Poorly developed lungs	Often (30–79%)
Breathing dysregulation	Sometimes (5–29%)
Orthopnea	Sometimes (5–29%)
Obstructive lung disease	Rarely (1–4%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Congenital diaphragmatic hernia	Very often (80–99%)
Absent/small diaprhagm	Often (30–79%)
Hernia	Often (30–79%)
Prominent sternum	Often (30–79%)
Aplasia of the left hemidiaphragm	Sometimes (5–29%)
Cervical ribs	Sometimes (5–29%)
Low muscle tone, in neonatal onset	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Curvature of little finger	Very often (80–99%)
Short fingers or toes	Very often (80–99%)
Fluid accumulation in lower limbs	Sometimes (5–29%)
Broad big toe	Not recorded
Postaxial polydactyly	Not recorded

Laboratory abnormality

Trait	How often it is seen
Neonatal insulin-dependent diabetes mellitus	Very often (80–99%)
Diabetes mellitus	Not recorded
Glucose in urine	Not recorded
High blood sugar	Not recorded
Laboratory abnormality	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Prolonged partial thromboplastin time	Sometimes (5–29%)
Thromboembolic stroke	Sometimes (5–29%)
Thromboembolism	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Often (30–79%)
Intellectual disability	Often (30–79%)
Epilepsy	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Chest pain	Often (30–79%)
Decreased ability to exercise	Often (30–79%)
Fatigue	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Faltering weight	Often (30–79%)
Small for gestational age	Often (30–79%)

Abnormality of prenatal development or birth

Trait	How often it is seen
Low levels of amniotic fluid	Sometimes (5–29%)
Only one artery in umbilical cord instead of two	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid gland from birth	Sometimes (5–29%)
Absent pituitary gland	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Bulging eye	Often (30–79%)
Wide-set eyes	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Often (30–79%)
Double ureter	Sometimes (5–29%)

Abnormality of the immune system

Trait	How often it is seen
Pneumonia	Rarely (1–4%)
Recurrent bacterial infections	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Dizziness	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Blue discoloration of the skin	Rarely (1–4%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to GATA6 and how often each is seen. Find out more at hpo.jax.org.

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