Traits

Traits linked to PTPN6

protein tyrosine phosphatase non-receptor type 6

The Human Phenotype Ontology links 39 traits to PTPN6, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the immune system

Trait	How often it is seen
Abnormal circulating interleukin concentration	Very often (80–99%)
Predominantly dermal neutrophilic infiltrate	Very often (80–99%)
Abnormality of tumor necrosis factor secretion	Often (30–79%)
Acne	Often (30–79%)
Increased circulating interleukin 6 concentration	Often (30–79%)
Muscle inflammation	Often (30–79%)
Sterile abscess	Often (30–79%)
Acne inversa	Sometimes (5–29%)
Inflammation of fat tissue	Sometimes (5–29%)
Pimple	Sometimes (5–29%)
Recurrent infections	Sometimes (5–29%)

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Elevated white blood count	Often (30–79%)
Increased blood neutrophil counts	Often (30–79%)
Acute myeloid leukemia	Sometimes (5–29%)
Blood tumor	Sometimes (5–29%)
Low number of red blood cells or hemoglobin	Sometimes (5–29%)
Chronic lymphatic leukemia	Rarely (1–4%)

Abnormality of the integument

Trait	How often it is seen
Erythematous papule	Very often (80–99%)
Erythematous plaque	Very often (80–99%)
Skin nodule	Very often (80–99%)
Abnormal blistering of the skin	Sometimes (5–29%)
Pyoderma gangrenosum	Sometimes (5–29%)
Skin vesicle	Sometimes (5–29%)

Laboratory abnormality

Trait	How often it is seen
Elevated circulating C-reactive protein concentration	Often (30–79%)
High ESR	Often (30–79%)
Non-periodic recurrent fever	Often (30–79%)
Abnormal drug response	Sometimes (5–29%)

Constitutional symptom

Trait	How often it is seen
Pain	Very often (80–99%)
Joint pain	Often (30–79%)
Muscle ache	Often (30–79%)

Abnormality of head or neck

Trait	How often it is seen
Abnormality of the face	Often (30–79%)
Abnormality of the neck	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Small vessel vasculitis	Often (30–79%)
Stretched and thinned heart muscle	Rarely (1–4%)

Abnormal tissue mass

Trait	How often it is seen
Abnormal tissue mass	Sometimes (5–29%)

Abnormality of limbs

Trait	How often it is seen
Abnormality of the hand	Often (30–79%)

Abnormality of the breast

Trait	How often it is seen
Breast cancer	Rarely (1–4%)

Abnormality of the digestive system

Trait	How often it is seen
Inflammation of the large intestine	Sometimes (5–29%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Oligoarthritis	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 PTPN6 and how often each is seen. Find out more at hpo.jax.org.

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