Trăsături

Trăsături asociate cu PTPN11

protein tyrosine phosphatase non-receptor type 11

Human Phenotype Ontology asociază 159 trăsături cu PTPN11, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

PTPN11

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cystic hygroma	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Thickened skin folds of neck	Foarte des (80–99%)
Triangular face	Foarte des (80–99%)
Webbed neck	Foarte des (80–99%)
Abnormality of the face	Des (30–79%)
Big calvaria	Des (30–79%)
Broad forehead	Des (30–79%)
Eye folds	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Short neck	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Broad head shape	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Bad bite	Neînregistrat
Big lower jaw	Neînregistrat
Flat nose	Neînregistrat
High, narrow palate	Neînregistrat
Hyposmia	Neînregistrat
Parietal bossing	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Multiple enchondromatosis	Întotdeauna
Multiple exostoses	Întotdeauna
Abnormal shape of end part of bone	Foarte des (80–99%)
Bone pain	Foarte des (80–99%)
Death of bone due to decreased blood supply	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Formation of new noncancerous bone on top of existing bone	Foarte des (80–99%)
Funnel chest	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Wide rib cage	Foarte des (80–99%)
Delayed bone maturation	Des (30–79%)
High shoulder blade	Des (30–79%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Abnormal shape of joints	Neînregistrat
Kyphoscoliosis	Neînregistrat
Missing ribs	Neînregistrat
Multiple digital exostoses	Neînregistrat
Pectus excavatum of inferior sternum	Neînregistrat
Shield chest	Neînregistrat
Superior pectus carinatum	Neînregistrat
Synovitis	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Abnormal heart rate	Foarte des (80–99%)
Abnormal pulmonary valve morphology	Foarte des (80–99%)
Abnormality of lung artery	Foarte des (80–99%)
Bundle branch block	Foarte des (80–99%)
Enlarged and thickened heart muscle	Foarte des (80–99%)
Narrowing of lung artery	Foarte des (80–99%)
Narrowing of pulmonic valve	Foarte des (80–99%)
Abnormal mitral valve morphology	Des (30–79%)
Abnormality of the lymphatic system	Des (30–79%)
Abnormality of the spleen	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Hole in center of heart	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Abnormal endocardium morphology	Uneori (5–29%)
Aneurysm	Uneori (5–29%)
Complete atrioventricular canal defect	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of blood vessel below aortic heart valve	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)
Patent ductus arteriosus	Rar (1–4%)
Complete heart block	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Birthmark	Întotdeauna
Liver spots	Întotdeauna
Beauty mark	Foarte des (80–99%)
Freckling	Foarte des (80–99%)
Hyperelastic skin	Foarte des (80–99%)
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Coarse hair	Des (30–79%)
Afro-textured hair	Uneori (5–29%)
Excessive wrinkled skin	Uneori (5–29%)
Firm lump under the skin	Uneori (5–29%)
Dry skin	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the reproductive system	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Decreased fertility	Des (30–79%)
Abnormal localisation of kidneys	Uneori (5–29%)
Dilatation of the renal pelvis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Absent kidney on one side	Neînregistrat
Absent ovary	Neînregistrat
Male infertility	Neînregistrat
Short penis	Neînregistrat
Underdeveloped ovary	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Abnormality of the wide portion of a long bone	Foarte des (80–99%)
Winged shoulder blade	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Outward turned elbows	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Bowing of the long bones	Neînregistrat
Curvature of digit	Neînregistrat
Limited elbow movement	Neînregistrat
Radial deviation of finger	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Cranial nerve paralysis	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Neurodevelopmental delay	Des (30–79%)
Cancer of early nerve cells	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Abnormal platelet function	Des (30–79%)
Abnormality of coagulation	Des (30–79%)
Bleeding tendency	Des (30–79%)
Bruising susceptibility	Des (30–79%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Amegakaryocytic thrombocytopenia	Neînregistrat
Reduced factor XII activity	Neînregistrat
Reduced factor XIII activity	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Întotdeauna
Sensorineural hearing impairment	Foarte des (80–99%)
Severe sensorineural hearing impairment	Foarte des (80–99%)
Thickened helices	Foarte des (80–99%)
Low-set ears	Des (30–79%)
Aplasia of the semicircular canal	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Prominent ear	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Wide-set eyes	Întotdeauna
Bulging eye	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Blue eyes	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Close sighted	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Growth delay as children	Uneori (5–29%)
Faltering weight in infancy	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Decreased activity of gonads	Uneori (5–29%)
Delayed start of first period	Uneori (5–29%)
Delayed puberty	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent/small abdominal wall muscles	Foarte des (80–99%)
Enlarged liver	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Uneori (5–29%)
Malignant peripheral nerve sheath tumor	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Chylothorax	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Foarte des (80–99%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu PTPN11 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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