Trăsături

Trăsături asociate cu KRAS

KRas proto-oncogene, GTPase

Human Phenotype Ontology asociază 386 trăsături cu KRAS, 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
Benign eye tumor	Întotdeauna
Broad neck	Întotdeauna
Bulbous nose	Întotdeauna
Coarse facial features	Întotdeauna
Full lower lip	Întotdeauna
Long philtrum	Întotdeauna
Short nose	Întotdeauna
Skin tag in front of the ear	Întotdeauna
Sparse eyebrow	Întotdeauna
Abnormal conjunctiva morphology	Foarte des (80–99%)
Abnormal eyelashes	Foarte des (80–99%)
Absent eyebrow	Foarte des (80–99%)
Adenoma sebaceum	Foarte des (80–99%)
Broad opening between the eyelids	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%)
Depressed nasal bridge	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Flattened bony protrusion above eyes	Foarte des (80–99%)
Frontal bossing	Foarte des (80–99%)
Full cheeks	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Long face	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Nasal tip, upturned	Foarte des (80–99%)
Prominent back of the head	Foarte des (80–99%)
Relatively large head	Foarte des (80–99%)
Short neck	Foarte des (80–99%)
Sparse or absent eyebrows	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%)
Abnormal nasolacrimal system morphology	Des (30–79%)
Abnormality of the eyelid	Des (30–79%)
Abnormality of the face	Des (30–79%)
Abnormality of the skull	Des (30–79%)
Asymmetry of the posterior head	Des (30–79%)
Big calvaria	Des (30–79%)
Cheekbone underdevelopment	Des (30–79%)
Deep philtrum	Des (30–79%)
Enlargement of craniofacial bones	Des (30–79%)
Eye folds	Des (30–79%)
Facial asymmetry	Des (30–79%)
Full lips	Des (30–79%)
Giant cell granuloma of mandible	Des (30–79%)
Left unilambdoid synostosis	Des (30–79%)
Long, narrow head	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Narrow forehead	Des (30–79%)
Narrow opening between the eyelids	Des (30–79%)
Palpebral thickening	Des (30–79%)
Prominent forehead	Des (30–79%)
Short opening between the eyelids	Des (30–79%)
Sparse or absent eyelashes	Des (30–79%)
Abnormal facial shape	Uneori (5–29%)
Cancer of salivary gland	Uneori (5–29%)
Cleft eyelid	Uneori (5–29%)
Dandy-Walker malformation	Uneori (5–29%)
Early closure of midline skull joint	Uneori (5–29%)
Parietal bossing	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Wide nasal bridge	Uneori (5–29%)
Abnormal dentition	Neînregistrat
Abnormality of dental color	Neînregistrat
Abnormality of dental shape	Neînregistrat
Abnormality of head shape	Neînregistrat
Absent eyelashes	Neînregistrat
Bad bite	Neînregistrat
Broad forehead	Neînregistrat
Decreased size of nasal bridge	Neînregistrat
Open bite	Neînregistrat
Open mouth	Neînregistrat
Scaphocephaly	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Decrease in size of the outer layer of the brain due to loss of brain cells	Întotdeauna
Degeneration of cerebrum	Întotdeauna
Global developmental delay	Întotdeauna
Intellectual disability	Întotdeauna
Intellectual disability, severe	Întotdeauna
Severe global developmental delay	Întotdeauna
Abnormal shape of nervous system	Foarte des (80–99%)
Abnormal speech pattern	Foarte des (80–99%)
Absent septum pellucidum	Foarte des (80–99%)
Absent/small cerebellum	Foarte des (80–99%)
Agenesis of corpus callosum	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%)
Glioblastoma multiforme	Foarte des (80–99%)
Increased reflexes	Foarte des (80–99%)
Neurodevelopmental abnormality	Foarte des (80–99%)
Ventriculomegaly	Foarte des (80–99%)
Anxiety	Des (30–79%)
Attention deficit	Des (30–79%)
Autism	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Cavity within brain	Des (30–79%)
Chiari type I malformation	Des (30–79%)
Depression	Des (30–79%)
Difficulty finding words	Des (30–79%)
Echoing another person's speech	Des (30–79%)
Inability to speak	Des (30–79%)
Irritability	Des (30–79%)
Migraine	Des (30–79%)
Motor delay	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Rise in pressure inside skull	Des (30–79%)
Subcortical cerebral atrophy	Des (30–79%)
Abnormal gait	Uneori (5–29%)
Abnormal pyramidal sign	Uneori (5–29%)
Aplasia/Hypoplasia of the corpus callosum	Uneori (5–29%)
Benign neoplasm of the central nervous system	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Disorder of involuntary muscle movements	Uneori (5–29%)
Disturbed sensory perception	Uneori (5–29%)
Dysgraphia	Uneori (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	Uneori (5–29%)
Hallucinations	Uneori (5–29%)
Loss of developmental milestones	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Paralysis	Uneori (5–29%)
Paralysis of all four limbs	Uneori (5–29%)
Paralysis on one side of body	Uneori (5–29%)
Paralysis or weakness of one side of body	Uneori (5–29%)
Peripheral axonal neuropathy	Uneori (5–29%)
Pins and needles feeling	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Weakness of one side of body	Uneori (5–29%)
Hemimegalencephaly	Neînregistrat
More active than typical	Neînregistrat
Tongue thrusting	Neînregistrat
Underdeveloped frontal lobe	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Absence of part of skin at birth	Întotdeauna
Few cafe-au-lait spots	Întotdeauna
Hyperpigmented streaks	Întotdeauna
Absent/small skin	Foarte des (80–99%)
Beauty mark	Foarte des (80–99%)
Brittle hair	Foarte des (80–99%)
Dry skin	Foarte des (80–99%)
Excessive sweating	Foarte des (80–99%)
Excessive wrinkled skin	Foarte des (80–99%)
Fine hair	Foarte des (80–99%)
Firm lump under the skin	Foarte des (80–99%)
Generalized hyperpigmentation	Foarte des (80–99%)
Hair loss	Foarte des (80–99%)
Skin cancer	Foarte des (80–99%)
Yellow bumps of fatty deposits on skin	Foarte des (80–99%)
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Chicken skin	Des (30–79%)
Coarse hair	Des (30–79%)
Curly hair	Des (30–79%)
Hyperelastic skin	Des (30–79%)
Hyperkeratosis	Des (30–79%)
Ichthyosis	Des (30–79%)
Irregular hyperpigmentation	Des (30–79%)
Liver spots	Des (30–79%)
Multiple birthmarks	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Poor fingernail formation	Des (30–79%)
port-wine stain	Des (30–79%)
Slow-growing hair	Des (30–79%)
Sparse hair	Des (30–79%)
Basal cell carcinoma	Uneori (5–29%)
Loose redundant skin	Uneori (5–29%)
Numerous moles	Uneori (5–29%)
Epidermal nevus	Neînregistrat
Linear nevus sebaceous	Neînregistrat
Mole	Neînregistrat
Nevus sebaceous	Neînregistrat
Patchy lightened skin	Neînregistrat

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Increased spleen size	Întotdeauna
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Abnormal heart valve morphology	Foarte des (80–99%)
An opening in the wall separating the top two chambers of the heart	Foarte des (80–99%)
Collection of dilated blood vessels that forms mass	Foarte des (80–99%)
Narrowing of lung artery	Foarte des (80–99%)
Narrowing of pulmonic valve	Foarte des (80–99%)
Abnormal heart rate	Des (30–79%)
Abnormal pulmonary valve morphology	Des (30–79%)
Abnormality of the cardiovascular system	Des (30–79%)
Abnormality of the lymphatic system	Des (30–79%)
Abnormality of the spleen	Des (30–79%)
Disease of the heart muscle	Des (30–79%)
Enlarged and thickened heart muscle	Des (30–79%)
Increased blood pressure in blood vessels of lungs	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Patent foramen ovale	Des (30–79%)
Strawberry birthmark	Des (30–79%)
Swollen lymph nodes	Des (30–79%)
Tricuspid valve prolapse	Des (30–79%)
Visceral angiomatosis	Des (30–79%)
Abnormal aortic morphology	Uneori (5–29%)
Cardiac diverticulum	Uneori (5–29%)
Enlarged liver and spleen	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Uneori (5–29%)
Interrupted aortic arch	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Narrowing of aortic valve	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)
Cerebral arteriovenous malformation	Neînregistrat
Mini stroke	Neînregistrat
Strawberry mark	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Pancreatic adenocarcinoma	Întotdeauna
Abdominal pain	Foarte des (80–99%)
Absent/small abdominal wall muscles	Foarte des (80–99%)
Anorexia	Foarte des (80–99%)
Constipation	Foarte des (80–99%)
Feeding difficulties in infancy	Foarte des (80–99%)
Inability to properly digest food due to lack of pancreatic digestive enzymes	Foarte des (80–99%)
Malabsorption	Foarte des (80–99%)
Poor appetite	Foarte des (80–99%)
Colon cancer	Des (30–79%)
Enlarged colon lacking nerve cells	Des (30–79%)
Enlarged liver	Des (30–79%)
Extrahepatic cholestasis	Des (30–79%)
Functional intestinal obstruction	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Intestinal pseudo-obstruction	Des (30–79%)
Jaundice	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Rectal tumor	Des (30–79%)
Stomach tumor	Des (30–79%)
Abnormality of the gastrointestinal tract	Uneori (5–29%)
Cancer of the pancreas	Uneori (5–29%)
Functional abnormality of the gastrointestinal tract	Uneori (5–29%)
Growths in inner lining of intestine	Uneori (5–29%)
Hepatocellular carcinoma	Uneori (5–29%)
Intermittent diarrhea	Uneori (5–29%)
Liver cancer	Uneori (5–29%)
Peritoneal abscess	Uneori (5–29%)
Acid reflux	Neînregistrat
Bladder exstrophy	Neînregistrat
Stomach cancer	Neînregistrat
Vomiting	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Funnel chest	Întotdeauna
Wide rib cage	Întotdeauna
Back pain	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Inability to make and keep healthy fat tissue	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Multiple fatty lumps	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Shield chest	Foarte des (80–99%)
Vertebral segmentation defect	Foarte des (80–99%)
Abnormal deposits of calcium in the brain	Des (30–79%)
Bone cyst	Des (30–79%)
Breakdown of bone	Des (30–79%)
Delayed bone maturation	Des (30–79%)
Generalized decreased muscle tone	Des (30–79%)
Involuntary muscle stiffness, contraction, or spasm	Des (30–79%)
Muscle stiffness	Des (30–79%)
Rigidity	Des (30–79%)
Scoliosis	Des (30–79%)
Skeletal tumor	Des (30–79%)
Spasticity and rigidity of muscles	Des (30–79%)
Abnormal shape of cartilage	Uneori (5–29%)
Abnormal skeletal development	Uneori (5–29%)
Dysostosis multiplex	Uneori (5–29%)
Flexed joint that cannot be straightened	Uneori (5–29%)
Osteochondrosis	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Hypophosphatemic rickets	Neînregistrat
Kyphoscoliosis	Neînregistrat
Recurrent fractures	Neînregistrat

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Blue eyes	Întotdeauna
Bulging eye	Întotdeauna
Farsightedness	Întotdeauna
Wide-set eyes	Întotdeauna
Abnormality of the eye	Foarte des (80–99%)
Abnormality of vision	Foarte des (80–99%)
Abnormally small eyeball	Foarte des (80–99%)
Cat eye	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Noninflammatory retina disease	Foarte des (80–99%)
Chorioretinal atrophy	Des (30–79%)
Close sighted	Des (30–79%)
Corneal opacity	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Amaurosis fugax	Uneori (5–29%)
Astigmatism	Uneori (5–29%)
Cerebral visual impairment	Uneori (5–29%)
Eye muscle paralysis	Uneori (5–29%)
Opacification of the corneal stroma	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Partial loss of field of vision	Uneori (5–29%)
Visual impairment	Uneori (5–29%)
Anisometropia	Neînregistrat
Cornea of eye less than 10mm in diameter	Neînregistrat
Notched pupil	Neînregistrat
Oculomotor apraxia	Neînregistrat
Optic nerve dysplasia	Neînregistrat
Progressive loss of vision	Neînregistrat

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the reproductive system	Des (30–79%)
Abnormality of the ureter	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormality of the bladder	Uneori (5–29%)
Abnormality of the penis	Uneori (5–29%)
Dilatation of the renal pelvis	Uneori (5–29%)
Endometrial carcinoma	Uneori (5–29%)
Epispadias	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Kidney cancer	Uneori (5–29%)
Malignant genitourinary tract tumor	Uneori (5–29%)
Ovarian cancer	Uneori (5–29%)
Ovarian carcinoma	Uneori (5–29%)
Urinary tract neoplasm	Uneori (5–29%)
Bladder neoplasm	Neînregistrat
Horseshoe kidney	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Întotdeauna
Back knee	Foarte des (80–99%)
Thickening of palms and soles	Foarte des (80–99%)
Abnormal morphology of ulna	Des (30–79%)
Deep palm line	Des (30–79%)
Outward turned elbows	Des (30–79%)
Short fingers or toes	Des (30–79%)
Short palm	Des (30–79%)
Fused forearm bones	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Abnormalities of the fingers	Neînregistrat
Abnormalities of the toes	Neînregistrat
Asymmetric overgrowth	Neînregistrat
Finger joint hyperextensibility	Neînregistrat
Left and right leg differ in length or width	Neînregistrat
Multiple plantar creases	Neînregistrat

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Thickened helices	Întotdeauna
Ears rotated toward back of head	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Abnormality of the ear	Des (30–79%)
Hearing impairment	Des (30–79%)
Large earlobe	Des (30–79%)
Large ears	Des (30–79%)
Aplasia of the semicircular canal	Uneori (5–29%)
Sensorineural hearing impairment	Uneori (5–29%)
Earlobe crease	Neînregistrat

Abnormality of blood and blood-forming tissues

Trăsătură	Cât de frecvent apare
Gastrointestinal bleeding	Foarte des (80–99%)
Abnormal platelet function	Des (30–79%)
Abnormality of coagulation	Des (30–79%)
Bleeding tendency	Des (30–79%)
Blood tumor	Uneori (5–29%)
Bruising susceptibility	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Acute myeloid leukemia	Neînregistrat

Growth abnormality

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

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Pineal cyst	Des (30–79%)
Delayed start of first period	Uneori (5–29%)
Early onset of puberty	Uneori (5–29%)
Neoplasm of the thyroid gland	Uneori (5–29%)
Noncancerous tumor in pituitary gland	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Laryngeal hypoplasia	Des (30–79%)
Laryngeal carcinoma	Uneori (5–29%)
Alveolar cell carcinoma	Neînregistrat
Lung adenocarcinoma	Neînregistrat
Non-small cell lung carcinoma	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Diabetes mellitus	Uneori (5–29%)
High liver enzymes	Uneori (5–29%)
High urine phosphate levels	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)
Increased level of L-fucose in urine	Neînregistrat

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Foarte des (80–99%)
Breast cancer	Uneori (5–29%)
Accessory nipple	Neînregistrat

Abnormality of prenatal development or birth

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

Constitutional symptom

Trăsătură	Cât de frecvent apare
Chronic fatigue	Foarte des (80–99%)
Fatigue	Foarte des (80–99%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Baby eczema	Neînregistrat

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

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