Traits

Traits linked to STAT2

signal transducer and activator of transcription 2

The Human Phenotype Ontology links 29 traits to STAT2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding in brain	Always
Decreased blood lymphocyte number	Always
Elevated circulating D-dimer concentration	Always
Elevated white blood count	Always
Low number of red blood cells or hemoglobin	Always
Congenital thrombocytopenia	Often (30–79%)

Laboratory abnormality

Trait	How often it is seen
Elevated CSF neopterin level	Always
High urine protein levels	Always
Elevated circulating alanine aminotransferase concentration	Often (30–79%)
Episodic fever	Often (30–79%)
Higher than normal levels of lactate in blood	Often (30–79%)
Elevated serum ferritin	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormal cerebral white matter morphology	Always
Global developmental delay	Always
Epilepsy	Often (30–79%)
Small cerebellum	Often (30–79%)
Encephalopathy	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged heart	Always
Inflammation of the lymph nodes	Always
High blood pressure	Not recorded

Abnormal cellular phenotype

Trait	How often it is seen
Decreased circulating IgA concentration	Always
Decreased circulating IgM concentration	Often (30–79%)

Abnormality of the immune system

Trait	How often it is seen
Severe viral infection	Often (30–79%)
Post-vaccination measles	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Apnea	Always
Respiratory function loss	Always

Abnormality of prenatal development or birth

Trait	How often it is seen
Premature birth	Always

Abnormality of the genitourinary system

Trait	How often it is seen
Acute kidney injury	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	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 STAT2 and how often each is seen. Find out more at hpo.jax.org.

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