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Traits
Traits linked to PTPN11
protein tyrosine phosphatase non-receptor type 11
The Human Phenotype Ontology links 159 traits to PTPN11, by body system: features seen in people with one of the gene's rare conditions.
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Abnormality of head or neck
| Trait | How often it is seen |
|---|---|
| Cystic hygroma | Very often (80–99%) |
| Downward slanting of the opening between the eyelids | Very often (80–99%) |
| Full lower lip | Very often (80–99%) |
| High forehead | Very often (80–99%) |
| High palate | Very often (80–99%) |
| Little lower jaw | Very often (80–99%) |
| Midface retrusion | Very often (80–99%) |
| Thickened skin folds of neck | Very often (80–99%) |
| Triangular face | Very often (80–99%) |
| Webbed neck | Very often (80–99%) |
| Abnormality of the face | Often (30–79%) |
| Big calvaria | Often (30–79%) |
| Broad forehead | Often (30–79%) |
| Eye folds | Often (30–79%) |
| Low hairline at back of neck | Often (30–79%) |
| Short neck | Often (30–79%) |
| Wide nasal bridge | Often (30–79%) |
| Broad head shape | Sometimes (5–29%) |
| Cleft palate | Sometimes (5–29%) |
| Bad bite | Not recorded |
| Big lower jaw | Not recorded |
| Flat nose | Not recorded |
| High, narrow palate | Not recorded |
| Hyposmia | Not recorded |
| Parietal bossing | Not recorded |
Abnormality of the musculoskeletal system
| Trait | How often it is seen |
|---|---|
| Multiple enchondromatosis | Always |
| Multiple exostoses | Always |
| Abnormal shape of end part of bone | Very often (80–99%) |
| Bone pain | Very often (80–99%) |
| Death of bone due to decreased blood supply | Very often (80–99%) |
| Double-Jointed | Very often (80–99%) |
| Formation of new noncancerous bone on top of existing bone | Very often (80–99%) |
| Funnel chest | Very often (80–99%) |
| Muscle weakness | Very often (80–99%) |
| Pigeon chest | Very often (80–99%) |
| Wide rib cage | Very often (80–99%) |
| Delayed bone maturation | Often (30–79%) |
| High shoulder blade | Often (30–79%) |
| Low muscle tone | Often (30–79%) |
| Scoliosis | Often (30–79%) |
| Abnormality of the sternum | Sometimes (5–29%) |
| Osteopenia | Sometimes (5–29%) |
| Abnormal shape of joints | Not recorded |
| Kyphoscoliosis | Not recorded |
| Missing ribs | Not recorded |
| Multiple digital exostoses | Not recorded |
| Pectus excavatum of inferior sternum | Not recorded |
| Shield chest | Not recorded |
| Superior pectus carinatum | Not recorded |
| Synovitis | Not recorded |
Abnormality of the cardiovascular system
Abnormality of the integument
| Trait | How often it is seen |
|---|---|
| Birthmark | Always |
| Liver spots | Always |
| Beauty mark | Very often (80–99%) |
| Freckling | Very often (80–99%) |
| Hyperelastic skin | Very often (80–99%) |
| Abnormal fingerprints | Often (30–79%) |
| Abnormal hair quantity | Often (30–79%) |
| Coarse hair | Often (30–79%) |
| Afro-textured hair | Sometimes (5–29%) |
| Excessive wrinkled skin | Sometimes (5–29%) |
| Firm lump under the skin | Sometimes (5–29%) |
| Dry skin | Rarely (1–4%) |
Abnormality of the genitourinary system
| Trait | How often it is seen |
|---|---|
| Abnormality of the reproductive system | Very often (80–99%) |
| Undescended testes | Very often (80–99%) |
| Decreased fertility | Often (30–79%) |
| Abnormal localisation of kidneys | Sometimes (5–29%) |
| Dilatation of the renal pelvis | Sometimes (5–29%) |
| Hypospadias | Sometimes (5–29%) |
| Absent kidney on one side | Not recorded |
| Absent ovary | Not recorded |
| Male infertility | Not recorded |
| Short penis | Not recorded |
| Underdeveloped ovary | Not recorded |
Abnormality of limbs
| Trait | How often it is seen |
|---|---|
| Abnormality of the wide portion of a long bone | Very often (80–99%) |
| Winged shoulder blade | Often (30–79%) |
| Curvature of little finger | Sometimes (5–29%) |
| Fused forearm bones | Sometimes (5–29%) |
| Outward turned elbows | Sometimes (5–29%) |
| Short fingers or toes | Sometimes (5–29%) |
| Bowing of the long bones | Not recorded |
| Curvature of digit | Not recorded |
| Limited elbow movement | Not recorded |
| Radial deviation of finger | Not recorded |
Abnormality of the nervous system
| Trait | How often it is seen |
|---|---|
| Abnormal speech pattern | Very often (80–99%) |
| Cranial nerve paralysis | Very often (80–99%) |
| Difficulty articulating speech | Very often (80–99%) |
| Neurodevelopmental delay | Often (30–79%) |
| Cancer of early nerve cells | Sometimes (5–29%) |
| Global developmental delay | Sometimes (5–29%) |
| Intellectual disability | Sometimes (5–29%) |
| Intellectual disability, mild | Sometimes (5–29%) |
| Specific learning disability | Sometimes (5–29%) |
| Spina bifida occulta | Sometimes (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | How often it is seen |
|---|---|
| Abnormal platelet function | Often (30–79%) |
| Abnormality of coagulation | Often (30–79%) |
| Bleeding tendency | Often (30–79%) |
| Bruising susceptibility | Often (30–79%) |
| Juvenile myelomonocytic leukemia | Sometimes (5–29%) |
| Myelodysplasia | Sometimes (5–29%) |
| Amegakaryocytic thrombocytopenia | Not recorded |
| Reduced factor XII activity | Not recorded |
| Reduced factor XIII activity | Not recorded |
Abnormality of the ear
| Trait | How often it is seen |
|---|---|
| Ears rotated toward back of head | Always |
| Sensorineural hearing impairment | Very often (80–99%) |
| Severe sensorineural hearing impairment | Very often (80–99%) |
| Thickened helices | Very often (80–99%) |
| Low-set ears | Often (30–79%) |
| Aplasia of the semicircular canal | Sometimes (5–29%) |
| Hearing impairment | Sometimes (5–29%) |
| Prominent ear | Not recorded |
Abnormality of the eye
| Trait | How often it is seen |
|---|---|
| Wide-set eyes | Always |
| Bulging eye | Very often (80–99%) |
| Drooping upper eyelid | Very often (80–99%) |
| Blue eyes | Often (30–79%) |
| Cross-eyed | Often (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Sometimes (5–29%) |
| Close sighted | Not recorded |
Growth abnormality
| Trait | How often it is seen |
|---|---|
| Growth delay | Very often (80–99%) |
| Prenatal growth deficiency | Very often (80–99%) |
| Short stature | Very often (80–99%) |
| Growth delay as children | Sometimes (5–29%) |
| Faltering weight in infancy | Not recorded |
Abnormality of the endocrine system
| Trait | How often it is seen |
|---|---|
| Hypogonadotropic hypogonadism | Very often (80–99%) |
| Decreased activity of gonads | Sometimes (5–29%) |
| Delayed start of first period | Sometimes (5–29%) |
| Delayed puberty | Not recorded |
Abnormality of the digestive system
| Trait | How often it is seen |
|---|---|
| Absent/small abdominal wall muscles | Very often (80–99%) |
| Enlarged liver | Often (30–79%) |
| Feeding difficulties in infancy | Often (30–79%) |
Abnormal tissue mass
| Trait | How often it is seen |
|---|---|
| Cancer of skin pigment cells | Sometimes (5–29%) |
| Malignant peripheral nerve sheath tumor | Not recorded |
Laboratory abnormality
| Trait | How often it is seen |
|---|---|
| Chylothorax | Sometimes (5–29%) |
| Swelling caused by excess lymph fluid under skin | Sometimes (5–29%) |
Abnormality of the breast
| Trait | How often it is seen |
|---|---|
| Wide-spaced nipples | Very often (80–99%) |
Abnormality of the voice
| Trait | How often it is seen |
|---|---|
| Abnormality of the voice | 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 PTPN11 and how often each is seen. Find out more at hpo.jax.org.
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