Trăsături

Trăsături asociate cu RIT1

Ras like without CAAX 1

Human Phenotype Ontology asociază 90 trăsături cu RIT1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RIT1

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Enlarged and thickened heart muscle	Întotdeauna
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Narrowing of lung artery	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Abnormal pulmonary 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 heart wall separating two lower heart chambers	Des (30–79%)
Left ventricular hypertrophy	Des (30–79%)
Mitral regurgitation	Des (30–79%)
Narrowing of pulmonic valve	Des (30–79%)
Narrowing of aorta	Uneori (5–29%)
Patent ductus arteriosus	Uneori (5–29%)

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%)
Eye folds	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Relatively large head	Des (30–79%)
Short neck	Des (30–79%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	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%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Osteopenia	Uneori (5–29%)

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Coarse hair	Des (30–79%)
Curly hair	Des (30–79%)
Hyperelastic skin	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Beauty mark	Uneori (5–29%)
Hyperkeratosis	Uneori (5–29%)

Abnormality of the eye

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

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Thickened helices	Foarte des (80–99%)
Aplasia of the semicircular canal	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Neurodevelopmental delay	Des (30–79%)
Intellectual disability	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Excessive wrinkled skin of palms and soles	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)

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	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Birth weight > 90th percentile	Des (30–79%)
Faltering weight	Des (30–79%)
Growth delay as children	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the reproductive system	Des (30–79%)
Undescended testes	Des (30–79%)
Dilatation of the renal pelvis	Uneori (5–29%)

Abnormality of the endocrine system

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

Laboratory abnormality

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

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)

Abnormality of the breast

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

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Eczema	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 RIT1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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