Traits

Traits linked to PTPN2

protein tyrosine phosphatase non-receptor type 2

The Human Phenotype Ontology links 45 traits to PTPN2, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the musculoskeletal system

Trait	How often it is seen
Arthritis	Very often (80–99%)
Oligoarthritis	Very often (80–99%)
Double-Jointed	Often (30–79%)
Enthesitis	Often (30–79%)
Joint stiffness	Often (30–79%)
Synovial lining hyperplasia	Often (30–79%)
Synovitis	Often (30–79%)
Abnormal cervical spine	Sometimes (5–29%)
Abnormality of the shoulder	Sometimes (5–29%)
Flexed joint that cannot be straightened	Sometimes (5–29%)
Hip osteoarthritis	Sometimes (5–29%)
Rheumatoid arthritis	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the ankle	Often (30–79%)
Abnormality of the wrist	Often (30–79%)
Ankle swelling	Often (30–79%)
Knee osteoarthritis	Often (30–79%)
Abnormality of the hand	Sometimes (5–29%)
Abnormality of the hip joint	Sometimes (5–29%)
Abnormality of the knuckle	Sometimes (5–29%)
Abnormality of the long bone of foot	Sometimes (5–29%)

Abnormality of the eye

Trait	How often it is seen
Uveitis	Often (30–79%)
Anterior chamber synechiae	Sometimes (5–29%)
Band keratopathy	Sometimes (5–29%)
Decreased clarity of vision	Sometimes (5–29%)
Visual loss	Sometimes (5–29%)
Clouding of the lens of the eye	Rarely (1–4%)
Glaucoma	Rarely (1–4%)
Iridocyclitis	Rarely (1–4%)

Abnormality of the immune system

Trait	How often it is seen
Antinuclear antibody positivity	Very often (80–99%)
Abnormal circulating interleukin concentration	Often (30–79%)
Autoimmunity	Often (30–79%)
Increased circulating interferon-gamma concentration	Often (30–79%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Often (30–79%)
Mild growth deficiency	Sometimes (5–29%)
Severe growth delay in children	Sometimes (5–29%)
Weight loss	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
High ESR	Often (30–79%)
Joint swelling	Often (30–79%)
Low-grade fever	Sometimes (5–29%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Swollen lymph nodes	Sometimes (5–29%)
Enlarged liver and spleen	Rarely (1–4%)

Constitutional symptom

Trait	How often it is seen
Joint pain	Often (30–79%)
Muscle ache	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Low number of red blood cells or hemoglobin	Sometimes (5–29%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the jaw joint	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 PTPN2 and how often each is seen. Find out more at hpo.jax.org.

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