Trăsături

Trăsături asociate cu NRAS

NRAS proto-oncogene, GTPase

Human Phenotype Ontology asociază 238 trăsături cu NRAS, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Downward slanting of the opening between the eyelids	Întotdeauna
High forehead	Întotdeauna
Low hairline at back of neck	Întotdeauna
Short neck	Întotdeauna
Adenoma sebaceum	Foarte des (80–99%)
Corners of eye widely separated	Foarte des (80–99%)
Cystic hygroma	Foarte des (80–99%)
Decreased width of the skull	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Prominent back of the head	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%)
Asymmetry of the posterior head	Des (30–79%)
Big calvaria	Des (30–79%)
Broad forehead	Des (30–79%)
Facial asymmetry	Des (30–79%)
Dandy-Walker malformation	Uneori (5–29%)
Mouth sore	Uneori (5–29%)
Abnormality of dental color	Neînregistrat
Abnormality of dental shape	Neînregistrat
Abnormality of head shape	Neînregistrat
Anterior position of the premaxilla	Neînregistrat
Broad nasal tip	Neînregistrat
Deep philtrum	Neînregistrat
Depressed nasal bridge	Neînregistrat
Drooping lower lip	Neînregistrat
Eye folds	Neînregistrat
Full cheeks	Neînregistrat
Fullness around the eyes	Neînregistrat
Long eyebrows	Neînregistrat
Long philtrum	Neînregistrat
Narrow nasal ridge	Neînregistrat
Nasal tip, upturned	Neînregistrat
Open mouth	Neînregistrat
Prominent forehead	Neînregistrat
Round face	Neînregistrat
Short nose	Neînregistrat
Wide nasal bridge	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Liver spots	Întotdeauna
Abnormal skin pigmentation	Foarte des (80–99%)
Beauty mark	Foarte des (80–99%)
Giant pigmented mole	Foarte des (80–99%)
Hair loss	Foarte des (80–99%)
Mole	Foarte des (80–99%)
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Birthmark	Des (30–79%)
Chicken skin	Des (30–79%)
Coarse hair	Des (30–79%)
Curly hair	Des (30–79%)
Dry skin	Des (30–79%)
Irregular hyperpigmentation	Des (30–79%)
Lack of sweating	Des (30–79%)
Poor wound healing	Des (30–79%)
Choroid plexus papilloma	Uneori (5–29%)
Cutaneous melanoma	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Firm lump under the skin	Uneori (5–29%)
Itching	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)
Sparse hair	Uneori (5–29%)
Basal cell carcinoma	Neînregistrat
Ichthyosis	Neînregistrat
Linear nevus sebaceous	Neînregistrat
Nevus sebaceous	Neînregistrat
Nevus spilus	Neînregistrat
Numerous congenital melanocytic nevi	Neînregistrat
Numerous moles	Neînregistrat
Patchy lightened skin	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Absent/small cerebellum	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Diminished deep tendon reflex	Foarte des (80–99%)
EEG abnormality	Foarte des (80–99%)
Epilepsy	Foarte des (80–99%)
Increased reflexes	Foarte des (80–99%)
Intellectual disability	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Cavity within brain	Des (30–79%)
Intellectual disability, borderline	Des (30–79%)
Motor delay	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Ataxia	Uneori (5–29%)
Behavioral abnormality	Uneori (5–29%)
Delayed speech and language development	Uneori (5–29%)
Fluid-filled cyst in spinal cord	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Headache	Uneori (5–29%)
Mental deterioration	Uneori (5–29%)
Noncancerous growth of membranes covering brain	Uneori (5–29%)
Pressure on spinal cord	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Cranial nerve paralysis	Neînregistrat
Hemimegalencephaly	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
An opening in the wall separating the top two chambers of the heart	Întotdeauna
Enlarged and thickened heart muscle	Întotdeauna
Narrowing of pulmonic valve	Întotdeauna
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Collection of dilated blood vessels that forms mass	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%)
Increased spleen size	Des (30–79%)
Swollen lymph nodes	Des (30–79%)
Narrowing of aorta	Uneori (5–29%)
Patent foramen ovale	Uneori (5–29%)
Premature atrial contractions	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)
Follicular hyperplasia	Neînregistrat
Strawberry mark	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Generalized decreased muscle tone	Întotdeauna
Abnormality of the sternum	Foarte des (80–99%)
Bone pain	Foarte des (80–99%)
Breakdown of bone	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Funnel chest	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Vertebral segmentation defect	Foarte des (80–99%)
Wide rib cage	Foarte des (80–99%)
Delayed bone maturation	Des (30–79%)
Scoliosis	Des (30–79%)
Abnormal deposits of calcium in the brain	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Hypophosphatemic rickets	Rar (1–4%)
Kyphoscoliosis	Neînregistrat
Recurrent fractures	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Drooping of both upper eyelids	Întotdeauna
Wide-set eyes	Întotdeauna
Abnormally small eyeball	Foarte des (80–99%)
Bulging eye	Foarte des (80–99%)
Cat eye	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Abnormality of the eye	Des (30–79%)
Abnormality of vision	Des (30–79%)
Blue eyes	Des (30–79%)
Cross-eyed	Des (30–79%)
Astigmatism	Uneori (5–29%)
Bulging cornea	Uneori (5–29%)
Close sighted	Uneori (5–29%)
Corneal opacity	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)
Notched pupil	Neînregistrat

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 leukocyte number	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Low platelet count	Uneori (5–29%)
Autoimmune thrombocytopenia	Neînregistrat
Blood cancer	Neînregistrat
Cancer of lymphatic system	Neînregistrat
Hemolytic anemia	Neînregistrat
High blood monocyte number	Neînregistrat
High lymphocyte count	Neînregistrat
Low blood cell count	Neînregistrat
Low blood neutrophil count	Neînregistrat
Lymphoproliferative disorder	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	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)
Liver failure	Rar (1–4%)
Sclerosing cholangitis	Rar (1–4%)
Colon cancer	Neînregistrat
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat
Stomach tumor	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Delayed start of first period	Uneori (5–29%)
Diabetes insipidus	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Reduced circulating growth hormone concentration	Uneori (5–29%)
Premature breast development	Rar (1–4%)
Follicular thyroid carcinoma	Neînregistrat
Non-medullary thyroid carcinoma	Neînregistrat
Papillary thyroid carcinoma	Neînregistrat

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%)
Genital ulcers	Uneori (5–29%)
Cancer starting in small tubes in kidneys	Neînregistrat
Horseshoe kidney	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat
Uterine leiomyosarcoma	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Back knee	Foarte des (80–99%)
Curvature of little finger	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Abnormalities of the fingers	Neînregistrat
Abnormalities of the toes	Neînregistrat
Asymmetric overgrowth	Neînregistrat

Abnormality of the ear

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

Growth abnormality

Trăsătură	Cât de frecvent apare
Short stature	Foarte des (80–99%)
Uneven or disproportionate growth of one body part compared to another	Foarte des (80–99%)
Growth delay	Des (30–79%)
Growth delay as children	Uneori (5–29%)
Weight loss	Uneori (5–29%)
General overgrowth	Neînregistrat

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Eczema	Des (30–79%)
Skin rash	Des (30–79%)
Recurrent infections	Uneori (5–29%)
Recurrent respiratory infections	Uneori (5–29%)
Autoimmunity	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fever	Des (30–79%)
High urine phosphate levels	Uneori (5–29%)
Low albumin	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)
Fluid retention	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Cough	Des (30–79%)
Pulmonary Langerhans cell histiocytosis	Uneori (5–29%)
Spontaneous collapsed lung	Uneori (5–29%)
Respiratory function loss	Rar (1–4%)

Abnormal cellular phenotype

Trăsătură	Cât de frecvent apare
Decreased T cell apoptosis	Neînregistrat
Increased antibody level in blood	Neînregistrat

Abnormality of prenatal development or birth

Trăsătură	Cât de frecvent apare
High levels of amniotic fluid	Des (30–79%)
Only one artery in umbilical cord instead of two	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Neînregistrat

Abnormality of the breast

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

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 NRAS și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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