Tunnused

Geeniga NRAS seotud tunnused

NRAS proto-oncogene, GTPase

Inimese fenotüübi ontoloogia seostab geeniga NRAS 238 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the integument

Tunnus	Kui sageli seda täheldatakse
Liver spots	Alati
Abnormal skin pigmentation	Väga sageli (80–99%)
Beauty mark	Väga sageli (80–99%)
Giant pigmented mole	Väga sageli (80–99%)
Hair loss	Väga sageli (80–99%)
Mole	Väga sageli (80–99%)
Abnormal fingerprints	Sageli (30–79%)
Abnormal hair quantity	Sageli (30–79%)
Birthmark	Sageli (30–79%)
Chicken skin	Sageli (30–79%)
Coarse hair	Sageli (30–79%)
Curly hair	Sageli (30–79%)
Dry skin	Sageli (30–79%)
Irregular hyperpigmentation	Sageli (30–79%)
Lack of sweating	Sageli (30–79%)
Poor wound healing	Sageli (30–79%)
Choroid plexus papilloma	Mõnikord (5–29%)
Cutaneous melanoma	Mõnikord (5–29%)
Excessive hair growth	Mõnikord (5–29%)
Firm lump under the skin	Mõnikord (5–29%)
Itching	Mõnikord (5–29%)
Patchy loss of skin color	Mõnikord (5–29%)
Sparse hair	Mõnikord (5–29%)
Basal cell carcinoma	Pole registreeritud
Ichthyosis	Pole registreeritud
Linear nevus sebaceous	Pole registreeritud
Nevus sebaceous	Pole registreeritud
Nevus spilus	Pole registreeritud
Numerous congenital melanocytic nevi	Pole registreeritud
Numerous moles	Pole registreeritud
Patchy lightened skin	Pole registreeritud

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
An opening in the wall separating the top two chambers of the heart	Alati
Enlarged and thickened heart muscle	Alati
Narrowing of pulmonic valve	Alati
Abnormal cardiovascular system morphology	Väga sageli (80–99%)
Abnormal EKG	Väga sageli (80–99%)
Collection of dilated blood vessels that forms mass	Väga sageli (80–99%)
Narrowing of lung artery	Väga sageli (80–99%)
Abnormal heart rate	Sageli (30–79%)
Abnormal pulmonary valve morphology	Sageli (30–79%)
Abnormality of the lymphatic system	Sageli (30–79%)
Abnormality of the spleen	Sageli (30–79%)
Increased spleen size	Sageli (30–79%)
Swollen lymph nodes	Sageli (30–79%)
Narrowing of aorta	Mõnikord (5–29%)
Patent foramen ovale	Mõnikord (5–29%)
Premature atrial contractions	Mõnikord (5–29%)
Patent ductus arteriosus	Harva (1–4%)
Follicular hyperplasia	Pole registreeritud
Strawberry mark	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Generalized decreased muscle tone	Alati
Abnormality of the sternum	Väga sageli (80–99%)
Bone pain	Väga sageli (80–99%)
Breakdown of bone	Väga sageli (80–99%)
Double-Jointed	Väga sageli (80–99%)
Funnel chest	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Muscle weakness	Väga sageli (80–99%)
Pigeon chest	Väga sageli (80–99%)
Vertebral segmentation defect	Väga sageli (80–99%)
Wide rib cage	Väga sageli (80–99%)
Delayed bone maturation	Sageli (30–79%)
Scoliosis	Sageli (30–79%)
Abnormal deposits of calcium in the brain	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Hypophosphatemic rickets	Harva (1–4%)
Kyphoscoliosis	Pole registreeritud
Recurrent fractures	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Drooping of both upper eyelids	Alati
Wide-set eyes	Alati
Abnormally small eyeball	Väga sageli (80–99%)
Bulging eye	Väga sageli (80–99%)
Cat eye	Väga sageli (80–99%)
Drooping upper eyelid	Väga sageli (80–99%)
Abnormality of the eye	Sageli (30–79%)
Abnormality of vision	Sageli (30–79%)
Blue eyes	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Astigmatism	Mõnikord (5–29%)
Bulging cornea	Mõnikord (5–29%)
Close sighted	Mõnikord (5–29%)
Corneal opacity	Mõnikord (5–29%)
Eye muscle paralysis	Mõnikord (5–29%)
Involuntary, rapid, rhythmic eye movements	Mõnikord (5–29%)
Notched pupil	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Abnormal platelet function	Sageli (30–79%)
Abnormality of coagulation	Sageli (30–79%)
Bleeding tendency	Sageli (30–79%)
Bruising susceptibility	Mõnikord (5–29%)
Decreased blood leukocyte number	Mõnikord (5–29%)
Juvenile myelomonocytic leukemia	Mõnikord (5–29%)
Low platelet count	Mõnikord (5–29%)
Autoimmune thrombocytopenia	Pole registreeritud
Blood cancer	Pole registreeritud
Cancer of lymphatic system	Pole registreeritud
Hemolytic anemia	Pole registreeritud
High blood monocyte number	Pole registreeritud
High lymphocyte count	Pole registreeritud
Low blood cell count	Pole registreeritud
Low blood neutrophil count	Pole registreeritud
Lymphoproliferative disorder	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Absent/small abdominal wall muscles	Väga sageli (80–99%)
Enlarged liver	Sageli (30–79%)
Feeding difficulties	Sageli (30–79%)
Feeding difficulties in infancy	Sageli (30–79%)
Liver failure	Harva (1–4%)
Sclerosing cholangitis	Harva (1–4%)
Colon cancer	Pole registreeritud
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud
Stomach tumor	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Hypogonadotropic hypogonadism	Väga sageli (80–99%)
Delayed start of first period	Mõnikord (5–29%)
Diabetes insipidus	Mõnikord (5–29%)
Early onset of puberty	Mõnikord (5–29%)
Reduced circulating growth hormone concentration	Mõnikord (5–29%)
Premature breast development	Harva (1–4%)
Follicular thyroid carcinoma	Pole registreeritud
Non-medullary thyroid carcinoma	Pole registreeritud
Papillary thyroid carcinoma	Pole registreeritud

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the reproductive system	Sageli (30–79%)
Undescended testes	Sageli (30–79%)
Dilatation of the renal pelvis	Mõnikord (5–29%)
Genital ulcers	Mõnikord (5–29%)
Cancer starting in small tubes in kidneys	Pole registreeritud
Horseshoe kidney	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud
Uterine leiomyosarcoma	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Back knee	Väga sageli (80–99%)
Curvature of little finger	Mõnikord (5–29%)
Fused forearm bones	Mõnikord (5–29%)
Short fingers or toes	Mõnikord (5–29%)
Abnormalities of the fingers	Pole registreeritud
Abnormalities of the toes	Pole registreeritud
Asymmetric overgrowth	Pole registreeritud

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Alati
Low-set ears	Alati
Thickened helices	Väga sageli (80–99%)
Aplasia of the semicircular canal	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Sensorineural hearing impairment	Mõnikord (5–29%)

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Short stature	Väga sageli (80–99%)
Uneven or disproportionate growth of one body part compared to another	Väga sageli (80–99%)
Growth delay	Sageli (30–79%)
Growth delay as children	Mõnikord (5–29%)
Weight loss	Mõnikord (5–29%)
General overgrowth	Pole registreeritud

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Eczema	Sageli (30–79%)
Skin rash	Sageli (30–79%)
Recurrent infections	Mõnikord (5–29%)
Recurrent respiratory infections	Mõnikord (5–29%)
Autoimmunity	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
Fever	Sageli (30–79%)
High urine phosphate levels	Mõnikord (5–29%)
Low albumin	Mõnikord (5–29%)
Swelling caused by excess lymph fluid under skin	Mõnikord (5–29%)
Fluid retention	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Cough	Sageli (30–79%)
Pulmonary Langerhans cell histiocytosis	Mõnikord (5–29%)
Spontaneous collapsed lung	Mõnikord (5–29%)
Respiratory function loss	Harva (1–4%)

Abnormal cellular phenotype

Tunnus	Kui sageli seda täheldatakse
Decreased T cell apoptosis	Pole registreeritud
Increased antibody level in blood	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
High levels of amniotic fluid	Sageli (30–79%)
Only one artery in umbilical cord instead of two	Mõnikord (5–29%)

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Cancer of skin pigment cells	Pole registreeritud

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Väga sageli (80–99%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga NRAS seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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