Traits

Traits linked to STAT5B

signal transducer and activator of transcription 5B

The Human Phenotype Ontology links 74 traits to STAT5B, by body system: features seen in people with one of the gene's rare conditions.

STAT5B

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Bleeding gums	Often (30–79%)
Bleeding tendency	Often (30–79%)
Blood spots	Often (30–79%)
Bloody nose	Often (30–79%)
Bone marrow hypercellularity	Often (30–79%)
Bruising susceptibility	Often (30–79%)
Decreased blood leukocyte number	Often (30–79%)
Disseminated intravascular coagulation	Often (30–79%)
Ecchymosis	Often (30–79%)
Low blood cell count	Often (30–79%)
Low number of red blood cells or hemoglobin	Often (30–79%)
Low platelet count	Often (30–79%)
Petechiae	Often (30–79%)
Autoimmune thrombocytopenia	Sometimes (5–29%)
Diffuse alveolar hemorrhage	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Hypofibrinogenemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low T cell count	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Decreased response to growth hormone stimulation test	Always
Decreased circulating insulin-like growth factor 1 concentration	Very often (80–99%)
Delayed puberty	Often (30–79%)
Hashimoto thyroiditis	Often (30–79%)
Increased circulating prolactin concentration	Often (30–79%)
Thyroid gland inflammation	Sometimes (5–29%)
Reduced circulating growth hormone concentration	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Chronic infection	Often (30–79%)
Eczema	Often (30–79%)
Recurrent infections	Often (30–79%)
Psoriasiform dermatitis	Sometimes (5–29%)
Recurrent pneumonia	Sometimes (5–29%)
Severe varicella zoster infection	Sometimes (5–29%)
Susceptibility to herpesvirus	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always
Severe short stature	Always
Severe growth delay in children	Very often (80–99%)
Short stature	Often (30–79%)
Weight loss	Often (30–79%)
Faltering weight in infancy	Sometimes (5–29%)
Growth delay as children	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Always
Lymphocytic interstitial pneumonia	Always
Chronic lung disease	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Pulmonary scarring	Often (30–79%)
Wet cough	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Boxer's nasal deformity	Always
Prominent forehead	Always
Abnormally small head	Often (30–79%)
Gum enlargement	Sometimes (5–29%)
Inflammation of the mouth	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Marked delay in bone age	Often (30–79%)
Muscle weakness	Often (30–79%)
Bone pain	Sometimes (5–29%)
Juvenile idiopathic arthritis	Sometimes (5–29%)
Delayed bone maturation	Not recorded

Abnormality of the digestive system

Trait	How often it is seen
Anorexia	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Celiac disease	Sometimes (5–29%)
Chronic diarrhea	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Decreased circulating insulin-like growth factor-binding protein acid labile subunit concentration	Often (30–79%)
Fever	Often (30–79%)
Blood in urine	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgE concentration	Very often (80–99%)
Increased antibody level in blood	Sometimes (5–29%)

Abnormality of the nervous system

Trait	How often it is seen
High pitched voice	Always
Addictive alcohol use	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Sometimes (5–29%)

Abnormality of the ear

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

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal uterus bleeding	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Hair loss	Sometimes (5–29%)

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 STAT5B and how often each is seen. Find out more at hpo.jax.org.

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