Požymiai

Su NRAS susiję požymiai

NRAS proto-oncogene, GTPase

Žmogaus fenotipo ontologija sieja 238 požymių su NRAS, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Downward slanting of the opening between the eyelids	Visada
High forehead	Visada
Low hairline at back of neck	Visada
Short neck	Visada
Adenoma sebaceum	Labai dažnai (80–99%)
Corners of eye widely separated	Labai dažnai (80–99%)
Cystic hygroma	Labai dažnai (80–99%)
Decreased width of the skull	Labai dažnai (80–99%)
Frontal bossing	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Prominent back of the head	Labai dažnai (80–99%)
Thickened skin folds of neck	Labai dažnai (80–99%)
Triangular face	Labai dažnai (80–99%)
Webbed neck	Labai dažnai (80–99%)
Asymmetry of the posterior head	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Broad forehead	Dažnai (30–79%)
Facial asymmetry	Dažnai (30–79%)
Dandy-Walker malformation	Kartais (5–29%)
Mouth sore	Kartais (5–29%)
Abnormality of dental color	Neužfiksuota
Abnormality of dental shape	Neužfiksuota
Abnormality of head shape	Neužfiksuota
Anterior position of the premaxilla	Neužfiksuota
Broad nasal tip	Neužfiksuota
Deep philtrum	Neužfiksuota
Depressed nasal bridge	Neužfiksuota
Drooping lower lip	Neužfiksuota
Eye folds	Neužfiksuota
Full cheeks	Neužfiksuota
Fullness around the eyes	Neužfiksuota
Long eyebrows	Neužfiksuota
Long philtrum	Neužfiksuota
Narrow nasal ridge	Neužfiksuota
Nasal tip, upturned	Neužfiksuota
Open mouth	Neužfiksuota
Prominent forehead	Neužfiksuota
Round face	Neužfiksuota
Short nose	Neužfiksuota
Wide nasal bridge	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Liver spots	Visada
Abnormal skin pigmentation	Labai dažnai (80–99%)
Beauty mark	Labai dažnai (80–99%)
Giant pigmented mole	Labai dažnai (80–99%)
Hair loss	Labai dažnai (80–99%)
Mole	Labai dažnai (80–99%)
Abnormal fingerprints	Dažnai (30–79%)
Abnormal hair quantity	Dažnai (30–79%)
Birthmark	Dažnai (30–79%)
Chicken skin	Dažnai (30–79%)
Coarse hair	Dažnai (30–79%)
Curly hair	Dažnai (30–79%)
Dry skin	Dažnai (30–79%)
Irregular hyperpigmentation	Dažnai (30–79%)
Lack of sweating	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Choroid plexus papilloma	Kartais (5–29%)
Cutaneous melanoma	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)
Firm lump under the skin	Kartais (5–29%)
Itching	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Sparse hair	Kartais (5–29%)
Basal cell carcinoma	Neužfiksuota
Ichthyosis	Neužfiksuota
Linear nevus sebaceous	Neužfiksuota
Nevus sebaceous	Neužfiksuota
Nevus spilus	Neužfiksuota
Numerous congenital melanocytic nevi	Neužfiksuota
Numerous moles	Neužfiksuota
Patchy lightened skin	Neužfiksuota

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
An opening in the wall separating the top two chambers of the heart	Visada
Enlarged and thickened heart muscle	Visada
Narrowing of pulmonic valve	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal EKG	Labai dažnai (80–99%)
Collection of dilated blood vessels that forms mass	Labai dažnai (80–99%)
Narrowing of lung artery	Labai dažnai (80–99%)
Abnormal heart rate	Dažnai (30–79%)
Abnormal pulmonary valve morphology	Dažnai (30–79%)
Abnormality of the lymphatic system	Dažnai (30–79%)
Abnormality of the spleen	Dažnai (30–79%)
Increased spleen size	Dažnai (30–79%)
Swollen lymph nodes	Dažnai (30–79%)
Narrowing of aorta	Kartais (5–29%)
Patent foramen ovale	Kartais (5–29%)
Premature atrial contractions	Kartais (5–29%)
Patent ductus arteriosus	Retai (1–4 %)
Follicular hyperplasia	Neužfiksuota
Strawberry mark	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Generalized decreased muscle tone	Visada
Abnormality of the sternum	Labai dažnai (80–99%)
Bone pain	Labai dažnai (80–99%)
Breakdown of bone	Labai dažnai (80–99%)
Double-Jointed	Labai dažnai (80–99%)
Funnel chest	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Pigeon chest	Labai dažnai (80–99%)
Vertebral segmentation defect	Labai dažnai (80–99%)
Wide rib cage	Labai dažnai (80–99%)
Delayed bone maturation	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
Abnormal deposits of calcium in the brain	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Hypophosphatemic rickets	Retai (1–4 %)
Kyphoscoliosis	Neužfiksuota
Recurrent fractures	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Drooping of both upper eyelids	Visada
Wide-set eyes	Visada
Abnormally small eyeball	Labai dažnai (80–99%)
Bulging eye	Labai dažnai (80–99%)
Cat eye	Labai dažnai (80–99%)
Drooping upper eyelid	Labai dažnai (80–99%)
Abnormality of the eye	Dažnai (30–79%)
Abnormality of vision	Dažnai (30–79%)
Blue eyes	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Astigmatism	Kartais (5–29%)
Bulging cornea	Kartais (5–29%)
Close sighted	Kartais (5–29%)
Corneal opacity	Kartais (5–29%)
Eye muscle paralysis	Kartais (5–29%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)
Notched pupil	Neužfiksuota

Abnormality of blood and blood-forming tissues

Požymis	Kaip dažnai pasireiškia
Abnormal platelet function	Dažnai (30–79%)
Abnormality of coagulation	Dažnai (30–79%)
Bleeding tendency	Dažnai (30–79%)
Bruising susceptibility	Kartais (5–29%)
Decreased blood leukocyte number	Kartais (5–29%)
Juvenile myelomonocytic leukemia	Kartais (5–29%)
Low platelet count	Kartais (5–29%)
Autoimmune thrombocytopenia	Neužfiksuota
Blood cancer	Neužfiksuota
Cancer of lymphatic system	Neužfiksuota
Hemolytic anemia	Neužfiksuota
High blood monocyte number	Neužfiksuota
High lymphocyte count	Neužfiksuota
Low blood cell count	Neužfiksuota
Low blood neutrophil count	Neužfiksuota
Lymphoproliferative disorder	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Absent/small abdominal wall muscles	Labai dažnai (80–99%)
Enlarged liver	Dažnai (30–79%)
Feeding difficulties	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)
Liver failure	Retai (1–4 %)
Sclerosing cholangitis	Retai (1–4 %)
Colon cancer	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota
Stomach tumor	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Delayed start of first period	Kartais (5–29%)
Diabetes insipidus	Kartais (5–29%)
Early onset of puberty	Kartais (5–29%)
Reduced circulating growth hormone concentration	Kartais (5–29%)
Premature breast development	Retai (1–4 %)
Follicular thyroid carcinoma	Neužfiksuota
Non-medullary thyroid carcinoma	Neužfiksuota
Papillary thyroid carcinoma	Neužfiksuota

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the reproductive system	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Dilatation of the renal pelvis	Kartais (5–29%)
Genital ulcers	Kartais (5–29%)
Cancer starting in small tubes in kidneys	Neužfiksuota
Horseshoe kidney	Neužfiksuota
Transitional cell carcinoma of the bladder	Neužfiksuota
Uterine leiomyosarcoma	Neužfiksuota

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Back knee	Labai dažnai (80–99%)
Curvature of little finger	Kartais (5–29%)
Fused forearm bones	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Abnormalities of the fingers	Neužfiksuota
Abnormalities of the toes	Neužfiksuota
Asymmetric overgrowth	Neužfiksuota

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Visada
Low-set ears	Visada
Thickened helices	Labai dažnai (80–99%)
Aplasia of the semicircular canal	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Sensorineural hearing impairment	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Short stature	Labai dažnai (80–99%)
Uneven or disproportionate growth of one body part compared to another	Labai dažnai (80–99%)
Growth delay	Dažnai (30–79%)
Growth delay as children	Kartais (5–29%)
Weight loss	Kartais (5–29%)
General overgrowth	Neužfiksuota

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Eczema	Dažnai (30–79%)
Skin rash	Dažnai (30–79%)
Recurrent infections	Kartais (5–29%)
Recurrent respiratory infections	Kartais (5–29%)
Autoimmunity	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fever	Dažnai (30–79%)
High urine phosphate levels	Kartais (5–29%)
Low albumin	Kartais (5–29%)
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)
Fluid retention	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Cough	Dažnai (30–79%)
Pulmonary Langerhans cell histiocytosis	Kartais (5–29%)
Spontaneous collapsed lung	Kartais (5–29%)
Respiratory function loss	Retai (1–4 %)

Abnormal cellular phenotype

Požymis	Kaip dažnai pasireiškia
Decreased T cell apoptosis	Neužfiksuota
Increased antibody level in blood	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
High levels of amniotic fluid	Dažnai (30–79%)
Only one artery in umbilical cord instead of two	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	Labai dažnai (80–99%)

Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.

Iš kur tai žinoma

Žmogaus fenotipo ontologija, 2026-09-01 leidimas: su NRAS susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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