Trăsături

Trăsături asociate cu RRAS2

RAS related 2

Human Phenotype Ontology asociază 90 trăsături cu RRAS2, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

RRAS2

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
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%)
Hole in heart wall separating two lower heart chambers	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Uneori (5–29%)
Enlarged and thickened heart muscle	Uneori (5–29%)
Glabellar hemangioma	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Supravalvular aortic stenosis	Uneori (5–29%)
Tetralogy of Fallot	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)

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%)
Low hairline at back of 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%)
11 pairs of ribs	Uneori (5–29%)
Narrow spinal canal	Uneori (5–29%)
Osteopenia	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%)
Farsightedness	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Inward turning cross eyed	Uneori (5–29%)
Lazy eye	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%)
Chiari malformation	Uneori (5–29%)
Intellectual disability	Uneori (5–29%)
Mild global developmental delay	Uneori (5–29%)
Motor delay	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Ventriculomegaly	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%)
Decreased blood lymphocyte number	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Low platelet count	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Attachment of thumb close to wrist	Uneori (5–29%)
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 in infancy	Des (30–79%)
Anteriorly placed anus	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	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 integument

Trăsătură	Cât de frecvent apare
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Coarse hair	Des (30–79%)
Beauty mark	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Decreased response to growth hormone stimulation test	Uneori (5–29%)
Delayed start of first period	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%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Growth delay as children	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
Baby eczema	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Swelling caused by excess lymph fluid under skin	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 RRAS2 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

Un test. Răspunsuri pentru o viață.

De la 449 $Livrare gratuită · Rezultate în 6–8 săptămâni

Comandați Genome Test-ul meu