Traits

Traits linked to IFNG

interferon gamma

The Human Phenotype Ontology links 105 traits to IFNG, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Behavioral abnormality	Very often (80–99%)
Cortical dysplasia	Very often (80–99%)
Cortical tubers	Very often (80–99%)
Epilepsy	Very often (80–99%)
Subependymal nodules	Very often (80–99%)
Abnormal social behavior	Often (30–79%)
Aggressive behavior	Often (30–79%)
Autism	Often (30–79%)
Autism spectrum disorder	Often (30–79%)
Depression	Often (30–79%)
Difficulty sleeping	Often (30–79%)
Epileptic spasm	Often (30–79%)
Impulsivity	Often (30–79%)
Infantile spasms	Often (30–79%)
Intellectual disability	Often (30–79%)
More active than typical	Often (30–79%)
Neurodevelopmental delay	Often (30–79%)
Repeated seizures without recovery between them	Often (30–79%)
Repetitive compulsive behavior	Often (30–79%)
Seizure affecting one half of brain	Often (30–79%)
Self-injurious behavior	Often (30–79%)
Specific learning disability	Often (30–79%)
Anxiety	Sometimes (5–29%)
Attention deficit	Sometimes (5–29%)
Noncommunicating hydrocephalus	Sometimes (5–29%)
Poor speech	Sometimes (5–29%)
Subependymal giant-cell astrocytoma	Sometimes (5–29%)
Astrocytoma	Not recorded
Ependymoma	Not recorded
Hemimegalencephaly	Not recorded
Optic nerve glioma	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Aplastic anemia	Always
Elevated white blood count	Always
Low number of red blood cells or hemoglobin	Always
Bone marrow failure	Very often (80–99%)
Low blood cell count	Often (30–79%)
Reticulocytopenia	Often (30–79%)
Bleeding gums	Sometimes (5–29%)
Bloody nose	Sometimes (5–29%)
Ecchymosis	Sometimes (5–29%)
Low blood neutrophil count	Sometimes (5–29%)
Low platelet count	Sometimes (5–29%)
Retinal bleeding	Sometimes (5–29%)
Internal bleeding	Rarely (1–4%)
Increased number of platelets in blood	Not recorded

Abnormality of the integument

Trait	How often it is seen
Generalized abnormality of skin	Very often (80–99%)
Hypomelanotic macule	Very often (80–99%)
Confetti-like hypopigmented macules	Often (30–79%)
Shagreen patch	Often (30–79%)
Skin plaque	Often (30–79%)
Epidermoid cyst	Sometimes (5–29%)
Subungual fibromas	Sometimes (5–29%)
Ungual fibroma	Sometimes (5–29%)
Birthmark	Not recorded
Firm lump under the skin	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Absence of renal corticomedullary differentiation	Always
Abnormality of the kidney	Very often (80–99%)
Chronic kidney disease	Often (30–79%)
Cystic kidney disease	Often (30–79%)
Renal angiomyolipoma	Often (30–79%)
Renal failure	Sometimes (5–29%)
Cancer starting in small tubes in kidneys	Rarely (1–4%)
Polycystic kidney dysplasia	Rarely (1–4%)
Stage 5 chronic kidney disease	Rarely (1–4%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Enlarged liver and spleen	Always
Cardiac rhabdomyoma	Often (30–79%)
Pulmonary lymphangiomyomatosis	Often (30–79%)
Slow heartbeats	Often (30–79%)
High blood pressure	Sometimes (5–29%)
Bulge in wall of large artery that carries blood away from heart	Rarely (1–4%)
Increased spleen size	Not recorded
Wolff-Parkinson-White syndrome	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Carcinoid tumor	Rarely (1–4%)
Enlarged parathyroid glands	Rarely (1–4%)
Noncancerous tumor in pituitary gland	Rarely (1–4%)
Pancreatic endocrine tumor	Rarely (1–4%)
Parathyroid adenoma	Rarely (1–4%)
Pheochromocytoma	Rarely (1–4%)
Early onset of puberty	Not recorded
Underactive thyroid	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Adenoma sebaceum	Always
Dental enamel pits	Always
Gingival fibromatosis	Always
Retinal hamartoma	Often (30–79%)
Retinal astrocytic hamartoma	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
BCGitis	Often (30–79%)
BCGosis	Often (30–79%)
Recurrent infections	Sometimes (5–29%)
Autoimmune antibody positivity	Not recorded
Skin rash	Not recorded

Abnormality of the respiratory system

Trait	How often it is seen
Breathing difficulties	Sometimes (5–29%)
Coughing up blood	Sometimes (5–29%)
Respiratory tract infection	Sometimes (5–29%)
Respiratory failure	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Liver cysts	Sometimes (5–29%)
Diarrhea	Not recorded

Abnormality of the eye

Trait	How often it is seen
Chorioretinal hypopigmentation	Often (30–79%)
Achromatic retinal patches	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Abnormal deposits of calcium in the brain	Not recorded
Chordoma	Not recorded

Laboratory abnormality

Trait	How often it is seen
Fever	Always
Elevated serum ferritin	Not recorded

Abnormal tissue mass

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

Abnormality of the ear

Trait	How often it is seen
Hearing impairment	Always

Growth abnormality

Trait	How often it is seen
Faltering weight	Not recorded

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

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