Traits

Traits linked to GATA2

GATA binding protein 2

The Human Phenotype Ontology links 55 traits to GATA2, by body system: features seen in people with one of the gene's rare conditions.

GATA2

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low B cell count	Always
Low blood monocyte number	Always
Low blood neutrophil count	Always
Low number of red blood cells or hemoglobin	Always
Megakaryocyte nucleus hypolobulation	Always
Myelodysplasia	Always
Reduced total natural killer cell count	Always
Abnormal total neutrophil count	Very often (80–99%)
Acute blood cancer	Very often (80–99%)
Bone marrow failure	Very often (80–99%)
Low platelet count	Very often (80–99%)
Prolonged bleeding time	Very often (80–99%)
Acute myeloid leukemia	Often (30–79%)
Bleeding within the skull	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Hypercoagulability	Often (30–79%)
Aplastic anemia	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Inverted CD4:CD8 ratio	Sometimes (5–29%)
Myeloproliferative disorder	Sometimes (5–29%)
Blood cancer	Not recorded
Decreased blood lymphocyte number	Not recorded
Low blood cell count	Not recorded
Myeloid leukemia	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Bone infection	Always
Decreased immune function	Always
Recurrent respiratory infections	Often (30–79%)
Recurrent fungal infections	Not recorded
Recurrent mycobacterium avium complex infections	Not recorded
Recurrent viral infections	Not recorded

Abnormality of the ear

Trait	How often it is seen
Sensorineural hearing impairment	Very often (80–99%)
Chronic infections of the middle ear	Often (30–79%)
Dizziness	Often (30–79%)

Abnormality of the eye

Trait	How often it is seen
Optic nerve issue	Often (30–79%)
Visual loss	Often (30–79%)
Abnormally close eyes	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Eye folds	Sometimes (5–29%)
Webbed neck	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Long fingers	Sometimes (5–29%)
Tapered finger	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Increased spleen size	Often (30–79%)
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the digestive system

Trait	How often it is seen
Enlarged liver	Often (30–79%)
Nausea and vomiting	Often (30–79%)

Abnormality of the integument

Trait	How often it is seen
Paleness	Often (30–79%)
Warts	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
Abnormal speech pattern	Very often (80–99%)
Migraine	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Swelling caused by excess lymph fluid under skin	Very often (80–99%)
Fever	Often (30–79%)

Abnormality of the genitourinary system

Trait	How often it is seen
Cervical intraepithelial neoplasia	Always

Abnormality of the musculoskeletal system

Trait	How often it is seen
Bacterial infection of skin	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Respiratory failure	Very often (80–99%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Very often (80–99%)

Growth abnormality

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

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 GATA2 and how often each is seen. Find out more at hpo.jax.org.

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