Traits

Traits linked to GATA3

GATA binding protein 3

The Human Phenotype Ontology links 39 traits to GATA3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the genitourinary system

Trait	How often it is seen
Absent uterus	Always
Absent vagina	Always
Primary amenorrhea	Always
Renal dysplasia	Always
Unilateral renal dysplasia	Always
Absent kidney on one side	Often (30–79%)
Hydronephrosis	Often (30–79%)
Polycystic kidney dysplasia	Often (30–79%)
Renal failure	Often (30–79%)
Vesicoureteral reflux	Often (30–79%)
Double uterus	Sometimes (5–29%)
Double vagina	Sometimes (5–29%)
Abnormally closed or absent vagina	Rarely (1–4%)
Chronic kidney disease	Not recorded
Increased calcium level in kidney	Not recorded
Nephrotic syndrome	Not recorded
Thickened glomerular basement membrane	Not recorded

Laboratory abnormality

Trait	How often it is seen
Low blood calcium levels	Often (30–79%)
Diabetes mellitus	Sometimes (5–29%)
Blood in urine	Not recorded
Distal renal tubular acidosis	Not recorded
High urine protein levels	Not recorded
Proximal renal tubular acidosis	Not recorded

Abnormality of the eye

Trait	How often it is seen
Drooping upper eyelid	Always
Horizontal nystagmus	Always
Pseudopapilledema	Always
Rod-cone dystrophy	Rarely (1–4%)

Abnormality of the ear

Trait	How often it is seen
Progressive sensorineural hearing impairment	Always
Sensorineural hearing impairment	Very often (80–99%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased parathyroid hormone secretion	Always
Small parathyroid glands	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Basal ganglia calcification	Always
Intermittent involuntary muscle spasm	Always

Abnormal cellular phenotype

Trait	How often it is seen
Impaired T cell function	Rarely (1–4%)

Abnormality of head or neck

Trait	How often it is seen
Cleft palate	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Abnormality of the heart	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Psoriasiform dermatitis	Rarely (1–4%)

Abnormality of the nervous system

Trait	How often it is seen
Low calcium seizures	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Severe growth delay in children	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 GATA3 and how often each is seen. Find out more at hpo.jax.org.

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