Traits

Traits linked to STAT3

signal transducer and activator of transcription 3

The Human Phenotype Ontology links 172 traits to STAT3, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Reduced pancreatic beta cells	Very often (80–99%)
Abnormality of the intestine	Often (30–79%)
Acid reflux	Often (30–79%)
Anorexia	Often (30–79%)
Celiac disease	Often (30–79%)
Eosinophilic infiltration in the stomach mucosa	Often (30–79%)
Eosinophilic infiltration of the esophagus	Often (30–79%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Often (30–79%)
Poor swallowing	Often (30–79%)
Abdominal pain	Sometimes (5–29%)
Achalasia	Sometimes (5–29%)
Candida esophagitis	Sometimes (5–29%)
Constipation	Sometimes (5–29%)
Diarrhea	Sometimes (5–29%)
Duodenal ulcer	Sometimes (5–29%)
Esophageal diverticulum	Sometimes (5–29%)
Esophageal food impaction	Sometimes (5–29%)
Esophagus ulcer	Sometimes (5–29%)
Feeling full quickly when eating	Sometimes (5–29%)
Increased hepatic echogenicity	Sometimes (5–29%)
Intestinal perforation	Sometimes (5–29%)
Narrowing of esophagus due to inflammation and scar tissue	Sometimes (5–29%)
Nausea	Sometimes (5–29%)
Painful swallowing	Sometimes (5–29%)
Stomach ulcer	Sometimes (5–29%)
Underdeveloped pancreas	Sometimes (5–29%)
Colonic diverticula	Rarely (1–4%)
Esophageal furrows	Rarely (1–4%)
Rectum protrudes through anus	Rarely (1–4%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Autoimmune hemolytic anemia	Very often (80–99%)
Autoimmune neutropenia	Often (30–79%)
Autoimmune thrombocytopenia	Often (30–79%)
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%)
High blood eosinophil count	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%)
Cancer of lymphatic system	Sometimes (5–29%)
Diffuse alveolar hemorrhage	Sometimes (5–29%)
Elevated white blood count	Sometimes (5–29%)
Hodgkin lymphoma	Sometimes (5–29%)
Hypofibrinogenemia	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Oral cavity bleeding	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Wide nose	Always
Abnormal dentition	Often (30–79%)
Abnormality of the face	Often (30–79%)
Big lower jaw	Often (30–79%)
Chronic oral thrush	Often (30–79%)
Cleft palate	Often (30–79%)
Delayed eruption of teeth	Often (30–79%)
Delayed loss of baby teeth	Often (30–79%)
Dentinogenesis imperfecta	Often (30–79%)
Downturned corners of mouth	Often (30–79%)
Facial asymmetry	Often (30–79%)
Fatty deposits in skin around the eyes	Often (30–79%)
High palate	Often (30–79%)
Inflamed gums	Often (30–79%)
Prominent forehead	Often (30–79%)
Prominent metopic ridge	Often (30–79%)
Recurrent colds	Often (30–79%)
Wide nasal bridge	Often (30–79%)
Deformity of the skull	Sometimes (5–29%)
Gum enlargement	Sometimes (5–29%)
Inflammation of the mouth	Sometimes (5–29%)
Coarse facial features	Not recorded
Frontal bossing	Not recorded

Abnormality of the immune system

Trait	How often it is seen
Eczema	Very often (80–99%)
Recurrent cutaneous abscess formation	Very often (80–99%)
Recurrent infections	Very often (80–99%)
Recurrent pneumonia	Very often (80–99%)
Recurrent respiratory infections	Very often (80–99%)
Skin abscess	Very often (80–99%)
Skin rash	Very often (80–99%)
Chronic infection	Often (30–79%)
Opportunistic infection	Often (30–79%)
Recurrent mucocutaneous candidiasis	Often (30–79%)
Recurrent Staphylococcus aureus infection	Often (30–79%)
Bone infection	Sometimes (5–29%)
Recurrent chest infections	Sometimes (5–29%)
Autoimmune antibody positivity	Not recorded
Autoimmunity	Not recorded
Recurrent fungal infections	Not recorded
Recurrent sinus and lung infections	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Generalized myoclonic seizure	Often (30–79%)
Global developmental delay	Often (30–79%)
Grand mal seizures	Often (30–79%)
Intellectual disability	Often (30–79%)
Motor delay	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Addictive alcohol use	Sometimes (5–29%)
Apraxia	Sometimes (5–29%)
Ataxia	Sometimes (5–29%)
Chiari type I malformation	Sometimes (5–29%)
Coma	Sometimes (5–29%)
Intellectual disability, severe	Sometimes (5–29%)
Peripheral axonal neuropathy	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthrogryposis multiplex congenita	Often (30–79%)
Double-Jointed	Often (30–79%)
Lower-limb joint contracture	Often (30–79%)
Muscle weakness	Often (30–79%)
Osteopenia	Often (30–79%)
Osteoporosis	Often (30–79%)
Recurrent fractures	Often (30–79%)
Scoliosis	Often (30–79%)
Bacterial infection of skin	Sometimes (5–29%)
Bone pain	Sometimes (5–29%)
Low muscle tone	Sometimes (5–29%)
Polyarticular arthritis	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Dehydration	Very often (80–99%)
Glucose in urine	Very often (80–99%)
High blood sugar	Very often (80–99%)
Neonatal insulin-dependent diabetes mellitus	Very often (80–99%)
Fever	Often (30–79%)
High urine albumin levels	Often (30–79%)
Ketonuria	Often (30–79%)
Pleural empyema	Sometimes (5–29%)
Type 1 diabetes	Sometimes (5–29%)
Blood in urine	Rarely (1–4%)

Abnormality of the respiratory system

Trait	How often it is seen
Partial or complete collapse of part or entire lung	Very often (80–99%)
Cough	Often (30–79%)
Exertional breathlessness	Often (30–79%)
Permanent enlargement of the airways of the lungs	Often (30–79%)
Pulmonary cyst	Often (30–79%)
Pulmonary pneumatocele	Often (30–79%)
Desquamative interstitial pneumonitis	Sometimes (5–29%)
Interstitial pneumonitis	Sometimes (5–29%)
Wet cough	Sometimes (5–29%)

Abnormality of the integument

Trait	How often it is seen
Generalized abnormality of skin	Very often (80–99%)
Itching	Very often (80–99%)
Open skin sore	Very often (80–99%)
Abnormality of the hair	Often (30–79%)
Papule	Often (30–79%)
Paronychia	Often (30–79%)
Poor fingernail formation	Often (30–79%)
Skin vesicle	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Depleted blood volume	Very often (80–99%)
Abnormality of the heart	Often (30–79%)
Enlarged liver and spleen	Often (30–79%)
Aneurysm	Sometimes (5–29%)
Swollen lymph nodes	Sometimes (5–29%)
Redness of skin or mucous membrane	Not recorded

Abnormality of the eye

Trait	How often it is seen
Deeply set eye	Often (30–79%)
Drooping of both upper eyelids	Often (30–79%)
Noninflammatory retina disease	Often (30–79%)
Wide-set eyes	Not recorded

Growth abnormality

Trait	How often it is seen
Faltering weight	Very often (80–99%)
Weight loss	Very often (80–99%)
Prenatal growth deficiency	Often (30–79%)
Short stature	Often (30–79%)

Abnormality of the ear

Trait	How often it is seen
Chronic infections of the middle ear	Often (30–79%)
Dizziness	Often (30–79%)
Hearing impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Abnormal function of filtrating structures in kidney	Sometimes (5–29%)
Abnormality of the upper urinary tract	Sometimes (5–29%)
Abnormal uterus bleeding	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Fatigue	Often (30–79%)
Chest pain	Sometimes (5–29%)
Death of body tissue due to lack of blood flow or infection	Rarely (1–4%)

Abnormal cellular phenotype

Trait	How often it is seen
Increased circulating IgE concentration	Very often (80–99%)
Decreased circulating antibody level	Often (30–79%)

Abnormality of the endocrine system

Trait	How often it is seen
Delayed puberty	Sometimes (5–29%)
Underactive thyroid	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 STAT3 and how often each is seen. Find out more at hpo.jax.org.

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