Traits

Traits linked to GATA4

GATA binding protein 4

The Human Phenotype Ontology links 148 traits to GATA4, 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
An opening in the wall separating the top two chambers of the heart	Very often (80–99%)
Left-to-right shunt	Very often (80–99%)
Abnormal cardiac septum morphology	Often (30–79%)
Abnormal cardiovascular system morphology	Often (30–79%)
Fainting spell	Often (30–79%)
Hole in center of heart	Often (30–79%)
Hole in heart wall separating two lower heart chambers	Often (30–79%)
Narrowing of lung artery	Often (30–79%)
Palpitations	Often (30–79%)
Quivering upper heart chambers resulting in irregular heartbeat	Often (30–79%)
Right atrial enlargement	Often (30–79%)
Systolic heart murmur	Often (30–79%)
Tetralogy of Fallot	Often (30–79%)
Abnormal aortic morphology	Sometimes (5–29%)
Abnormal heart rate	Sometimes (5–29%)
Abnormal left ventricular function	Sometimes (5–29%)
Abnormal mitral valve morphology	Sometimes (5–29%)
Atrial flutter	Sometimes (5–29%)
Bundle branch block	Sometimes (5–29%)
Cardiac failure	Sometimes (5–29%)
Enlarged and thickened heart muscle	Sometimes (5–29%)
First degree atrioventricular block	Sometimes (5–29%)
Heart attack	Sometimes (5–29%)
Increased blood pressure in blood vessels of lungs	Sometimes (5–29%)
Mitral regurgitation	Sometimes (5–29%)
Narrowing of pulmonic valve	Sometimes (5–29%)
Patent ductus arteriosus	Sometimes (5–29%)
Right ventricular dilatation	Sometimes (5–29%)
ST segment depression	Sometimes (5–29%)
Supraventricular arrhythmia	Sometimes (5–29%)
Supraventricular tachycardia	Sometimes (5–29%)
Transposition of the great arteries	Sometimes (5–29%)
Tricuspid regurgitation	Sometimes (5–29%)
Underdeveloped left heart	Sometimes (5–29%)
Aortic regurgitation	Rarely (1–4%)
Heart tip and four chambers point towards right side of body	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%)
Primum atrial septal defect	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Undescended testes	Always
Abnormal internal genitalia	Very often (80–99%)
Abnormal labia morphology	Very often (80–99%)
Abnormal scrotum morphology	Very often (80–99%)
Abnormal sex determination	Very often (80–99%)
Abnormal vagina morphology	Very often (80–99%)
Absent sperm in semen	Very often (80–99%)
Ambiguous external genitalia	Very often (80–99%)
Decreased fertility in females	Very often (80–99%)
Decreased testicular size	Very often (80–99%)
Enlarged clitoris	Very often (80–99%)
Female external genitalia in individual with 46,XY karyotype	Very often (80–99%)
Gonadal dysgenesis	Very often (80–99%)
Hypospadias	Very often (80–99%)
Male infertility	Very often (80–99%)
Primary amenorrhea	Very often (80–99%)
Short penis	Very often (80–99%)
Streak ovary	Very often (80–99%)
Underdeveloped penis	Very often (80–99%)
Underdeveloped vagina	Very often (80–99%)
Urogenital sinus anomaly	Very often (80–99%)
Vanishing testis	Very often (80–99%)
Corpus cavernosum hypoplasia	Often (30–79%)
Gonadoblastoma	Often (30–79%)
Microphallus	Often (30–79%)
Perineal hypospadias	Often (30–79%)
Ovarian gonadoblastoma	Sometimes (5–29%)
Testicular gonadoblastoma	Sometimes (5–29%)
Nephroblastoma	Rarely (1–4%)
Nephrotic syndrome	Rarely (1–4%)
Dysplastic testis	Not recorded

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%)
Abnormally small head	Often (30–79%)
Decreased volume of lip	Often (30–79%)
Decreased width of the skull	Often (30–79%)
Eye folds	Often (30–79%)
Flattened bony protrusion above eyes	Often (30–79%)
High forehead	Often (30–79%)
High palate	Often (30–79%)
Little lower jaw	Often (30–79%)
Long, narrow head	Often (30–79%)
Pit in front of the ear	Often (30–79%)
Short neck	Often (30–79%)
Short nose	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Downward slanting of the opening between the eyelids	Sometimes (5–29%)
Full cheeks	Sometimes (5–29%)
Prominent nasal bridge	Sometimes (5–29%)
Upward slanting of the opening between the eyelids	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased serum estradiol	Very often (80–99%)
Decreased serum testosterone level	Very often (80–99%)
Elevated circulating follicle stimulating hormone level	Very often (80–99%)
Elevated circulating luteinizing hormone level	Very often (80–99%)
Hypergonadotropic hypogonadism	Very often (80–99%)
Increased circulating gonadotropin level	Very often (80–99%)
Delayed puberty	Often (30–79%)
Absence of secondary sex characteristics	Sometimes (5–29%)
Adrenal insufficiency	Sometimes (5–29%)
Primary gonadal insufficiency	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%)
Tapered finger	Often (30–79%)
Attachment of thumb close to wrist	Sometimes (5–29%)
Broad bone of big toe	Sometimes (5–29%)
Broad thumb	Sometimes (5–29%)
Dropped arches	Sometimes (5–29%)
Fluid accumulation in lower limbs	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Global developmental delay	Very often (80–99%)
Intellectual disability, mild	Very often (80–99%)
Attention deficit	Often (30–79%)
Behavioral abnormality	Often (30–79%)
Epilepsy	Often (30–79%)
Poor speech	Often (30–79%)

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulty	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Breathing dysregulation	Sometimes (5–29%)
Orthopnea	Sometimes (5–29%)
Obstructive lung disease	Rarely (1–4%)

Growth abnormality

Trait	How often it is seen
Prenatal growth deficiency	Very often (80–99%)
Growth delay	Often (30–79%)
Short stature	Often (30–79%)
Weight loss	Often (30–79%)
Obesity	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Osteoporosis	Very often (80–99%)
Wide rib cage	Often (30–79%)
Congenital diaphragmatic hernia	Sometimes (5–29%)
Delayed bone maturation	Sometimes (5–29%)

Abnormality of the ear

Trait	How often it is seen
Abnormally shaped ears	Often (30–79%)
Dizziness	Often (30–79%)
Low-set ears	Often (30–79%)

Abnormality of the eye

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

Abnormality of the integument

Trait	How often it is seen
Limited armpit hair	Very often (80–99%)
Sparse pubic hair	Very often (80–99%)
Blue discoloration of the skin	Rarely (1–4%)

Constitutional symptom

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

Abnormality of blood and blood-forming tissues

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

Abnormality of the breast

Trait	How often it is seen
Enlarged male breast	Very often (80–99%)
Wide-spaced nipples	Often (30–79%)

Abnormality of the immune system

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

Abnormality of the digestive system

Trait	How often it is seen
Inguinal hernia	Always

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 GATA4 and how often each is seen. Find out more at hpo.jax.org.

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