Trăsături

Trăsături asociate cu BRAF

B-Raf proto-oncogene, serine/threonine kinase

Human Phenotype Ontology asociază 359 trăsături cu BRAF, 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
Big calvaria	Întotdeauna
Broad neck	Întotdeauna
Bulbous nose	Întotdeauna
Coarse facial features	Întotdeauna
Depressed nasal bridge	Întotdeauna
Downward slanting of the opening between the eyelids	Întotdeauna
Full lower lip	Întotdeauna
Long philtrum	Întotdeauna
Long, narrow head	Întotdeauna
Low hairline at back of neck	Întotdeauna
Narrow forehead	Întotdeauna
Palpebral thickening	Întotdeauna
Prominent forehead	Întotdeauna
Short neck	Întotdeauna
Short nose	Întotdeauna
Sparse eyebrow	Întotdeauna
Webbed neck	Întotdeauna
Abnormal eyelashes	Foarte des (80–99%)
Absent eyebrow	Foarte des (80–99%)
Broad opening between the eyelids	Foarte des (80–99%)
Cystic hygroma	Foarte des (80–99%)
Flattened bony protrusion above eyes	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%)
Sparse or absent eyebrows	Foarte des (80–99%)
Sparse scalp hair	Foarte des (80–99%)
Thickened skin folds of neck	Foarte des (80–99%)
Triangular face	Foarte des (80–99%)
Abnormality of the chin	Des (30–79%)
Abnormality of the face	Des (30–79%)
Broad forehead	Des (30–79%)
Cheekbone underdevelopment	Des (30–79%)
Dark color of gums	Des (30–79%)
Decreased width of the skull	Des (30–79%)
Deep philtrum	Des (30–79%)
Eye folds	Des (30–79%)
Frontal bossing	Des (30–79%)
Full lips	Des (30–79%)
Moon face	Des (30–79%)
Sparse or absent eyelashes	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Big sella turcica	Uneori (5–29%)
Broad head shape	Uneori (5–29%)
Cleft palate	Uneori (5–29%)
Submucous cleft hard palate	Uneori (5–29%)
Abnormality of the bone of the forehead	Rar (1–4%)
Abnormality of the nasal bone	Rar (1–4%)
Abnormal dentition	Neînregistrat
Absent eyelashes	Neînregistrat
Bad bite	Neînregistrat
High, narrow palate	Neînregistrat
Open bite	Neînregistrat
Open mouth	Neînregistrat
Relatively large head	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Curly hair	Întotdeauna
Dry skin	Întotdeauna
Few cafe-au-lait spots	Întotdeauna
Hyperkeratosis	Întotdeauna
Liver spots	Întotdeauna
Numerous moles	Întotdeauna
Abnormal skin pigmentation	Foarte des (80–99%)
Beauty mark	Foarte des (80–99%)
Brittle hair	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%)
Freckling	Foarte des (80–99%)
Giant pigmented mole	Foarte des (80–99%)
Hyperelastic skin	Foarte des (80–99%)
Mole	Foarte des (80–99%)
Papule	Foarte des (80–99%)
Abnormal blistering of the skin	Des (30–79%)
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Buffalo hump	Des (30–79%)
Chicken skin	Des (30–79%)
Coarse hair	Des (30–79%)
Excessive hairiness	Des (30–79%)
Generalized hyperpigmentation	Des (30–79%)
Ichthyosis	Des (30–79%)
Lack of sweating	Des (30–79%)
Lentigo maligna melanoma	Des (30–79%)
Multiple birthmarks	Des (30–79%)
Patchy darkened skin	Des (30–79%)
Plethora	Des (30–79%)
Poor fingernail formation	Des (30–79%)
Poor wound healing	Des (30–79%)
Slow-growing hair	Des (30–79%)
Sparse hair	Des (30–79%)
Stretch marks	Des (30–79%)
Thin skin	Des (30–79%)
Afro-textured hair	Uneori (5–29%)
Birthmark	Uneori (5–29%)
Cutaneous melanoma	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Flushing	Uneori (5–29%)
Itching	Uneori (5–29%)
Loose redundant skin	Uneori (5–29%)
Nevus sebaceous	Uneori (5–29%)
Open skin sore	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)
Atypical mole	Neînregistrat
Atypical nevi in non-sun exposed areas	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal shape of hypothalamus	Întotdeauna
Decrease in size of the outer layer of the brain due to loss of brain cells	Întotdeauna
Degeneration of cerebrum	Întotdeauna
Epilepsy	Întotdeauna
Intellectual disability	Întotdeauna
Intellectual disability, severe	Întotdeauna
Severe global developmental delay	Întotdeauna
Abnormal speech pattern	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Global developmental delay	Foarte des (80–99%)
Intracranial cystic lesion	Foarte des (80–99%)
Autism	Des (30–79%)
Behavioral abnormality	Des (30–79%)
Can't control feelings	Des (30–79%)
Difficulty sleeping	Des (30–79%)
EEG abnormality	Des (30–79%)
Excessive daytime sleepiness	Des (30–79%)
Headache	Des (30–79%)
Motor delay	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Cancer of early nerve cells	Uneori (5–29%)
Depression	Uneori (5–29%)
Increased appetite	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Memory impairment	Uneori (5–29%)
Pauses in breathing while sleeping	Uneori (5–29%)
Peripheral axonal neuropathy	Uneori (5–29%)
Pressure on spinal cord	Uneori (5–29%)
Psychotic episodes	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)
Suicidal ideation	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)
Coma	Rar (1–4%)
Dementia	Rar (1–4%)
Panic attack	Rar (1–4%)
Paranoia	Rar (1–4%)
Psychosis	Rar (1–4%)
Aplasia/Hypoplasia of the corpus callosum	Neînregistrat
Cognitive impairment	Neînregistrat
Tongue thrusting	Neînregistrat
Underdeveloped frontal lobe	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 rate	Foarte des (80–99%)
Abnormal heart valve morphology	Foarte des (80–99%)
Abnormal pulmonary valve morphology	Foarte des (80–99%)
Abnormality of lung artery	Foarte des (80–99%)
An opening in the wall separating the top two chambers of the heart	Foarte des (80–99%)
Bundle branch block	Foarte des (80–99%)
Enlarged and thickened heart muscle	Foarte des (80–99%)
Narrowing of lung artery	Foarte des (80–99%)
Narrowing of pulmonic valve	Foarte des (80–99%)
Abnormal mitral 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%)
Capillary fragility	Des (30–79%)
Collection of dilated blood vessels that forms mass	Des (30–79%)
Disease of the heart muscle	Des (30–79%)
High blood pressure	Des (30–79%)
Hole in center of heart	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Tetralogy of Fallot	Des (30–79%)
Abnormal endocardium morphology	Uneori (5–29%)
Aneurysm	Uneori (5–29%)
Disruption of blood oxygen supply to brain	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Livedo reticularis	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Stroke	Uneori (5–29%)
Hole in heart wall separating two lower heart chambers	Rar (1–4%)
Patent ductus arteriosus	Rar (1–4%)
Abnormal aortic valve morphology	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Delayed bone maturation	Întotdeauna
Funnel chest	Întotdeauna
Low muscle tone, in neonatal onset	Întotdeauna
Scoliosis	Întotdeauna
Shield chest	Întotdeauna
Wide rib cage	Întotdeauna
Abnormal deposits of calcium in the brain	Foarte des (80–99%)
Double-Jointed	Foarte des (80–99%)
Generalized decreased muscle tone	Foarte des (80–99%)
Low muscle tone	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Fatiguable weakness of proximal limb muscles	Des (30–79%)
High shoulder blade	Des (30–79%)
Osteoporosis	Des (30–79%)
Wasting of muscles near the body	Des (30–79%)
Abnormality of the sternum	Uneori (5–29%)
Compression fracture of a vertebral body	Uneori (5–29%)
Increased susceptibility to fractures	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Death of bone due to decreased blood supply	Rar (1–4%)
Hypophosphatemic rickets	Rar (1–4%)
Kyphoscoliosis	Neînregistrat
Pectus excavatum of inferior sternum	Neînregistrat
Spasticity and rigidity of muscles	Neînregistrat
Superior pectus carinatum	Neînregistrat
Synovitis	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%)
Drooping upper eyelid	Foarte des (80–99%)
Abnormal visual field test	Des (30–79%)
Bitemporal hemianopia	Des (30–79%)
Close sighted	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Des (30–79%)
Papilledema	Des (30–79%)
Progressive visual field defects	Des (30–79%)
Slow decrease in sharpness of vision	Des (30–79%)
Cerebral visual impairment	Uneori (5–29%)
Optic atrophy	Uneori (5–29%)
Optic nerve compression	Rar (1–4%)
Partial loss of field of vision	Rar (1–4%)
Sudden decrease in vision	Rar (1–4%)
Oculomotor apraxia	Neînregistrat
Optic nerve dysplasia	Neînregistrat
Progressive loss of vision	Neînregistrat
Uveal melanoma	Neînregistrat

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Feeding difficulties	Întotdeauna
Absent/small abdominal wall muscles	Foarte des (80–99%)
Feeding difficulties in infancy	Foarte des (80–99%)
Impaired oropharyngeal swallow response	Foarte des (80–99%)
Poor suck	Foarte des (80–99%)
Abnormality of esophagus structure	Des (30–79%)
Enlarged liver	Des (30–79%)
Gastrostomy tube feeding in infancy	Des (30–79%)
Nasogastric tube feeding in infancy	Des (30–79%)
Nausea and vomiting	Des (30–79%)
Abnormality of the gastrointestinal tract	Uneori (5–29%)
Functional abnormality of the gastrointestinal tract	Uneori (5–29%)
Acid reflux	Neînregistrat
Colon cancer	Neînregistrat
Constipation	Neînregistrat
Hereditary nonpolyposis colorectal carcinoma	Neînregistrat
Poor swallowing	Neînregistrat
Stomach tumor	Neînregistrat
Vomiting	Neînregistrat

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Enlarged pituitary gland	Foarte des (80–99%)
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Hypopituitarism	Foarte des (80–99%)
Increased circulating cortisol level	Foarte des (80–99%)
Neoplasm of the anterior pituitary	Foarte des (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Foarte des (80–99%)
Pituitary corticotropic cell adenoma	Foarte des (80–99%)
Central adrenal insufficiency	Des (30–79%)
Central diabetes insipidus	Des (30–79%)
Decreased activity of gonads	Des (30–79%)
Enlarged adrenal glands	Des (30–79%)
Increased circulating ACTH level	Des (30–79%)
Increased circulating prolactin concentration	Des (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Des (30–79%)
Delayed puberty	Uneori (5–29%)
Delayed start of first period	Uneori (5–29%)
Premature breast development	Rar (1–4%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the reproductive system	Foarte des (80–99%)
Undescended testes	Foarte des (80–99%)
Abnormal absence of menstruation	Des (30–79%)
Decreased fertility	Des (30–79%)
Abnormal libido	Uneori (5–29%)
Abnormal localisation of kidneys	Uneori (5–29%)
Dilatation of the renal pelvis	Uneori (5–29%)
Hydronephrosis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)
Light or infrequent menstrual periods	Uneori (5–29%)
Previous menstrual periods stop	Uneori (5–29%)
Cancer starting in small tubes in kidneys	Neînregistrat
Male infertility	Neînregistrat
Transitional cell carcinoma of the bladder	Neînregistrat
Uterine leiomyosarcoma	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	Des (30–79%)
Decreased blood lymphocyte number	Des (30–79%)
Decreased total eosinophil count	Des (30–79%)
Elevated white blood count	Des (30–79%)
Blood spots	Uneori (5–29%)
Ecchymosis	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Amegakaryocytic thrombocytopenia	Neînregistrat
Reduced factor XII activity	Neînregistrat
Reduced factor XIII activity	Neînregistrat

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Curvature of little finger	Întotdeauna
Outward turned elbows	Întotdeauna
Thickening of palms and soles	Foarte des (80–99%)
Abnormal morphology of ulna	Des (30–79%)
Deep palm line	Des (30–79%)
Winged shoulder blade	Des (30–79%)
Fused forearm bones	Uneori (5–29%)
Knock knees	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)
Fluid accumulation in lower limbs	Rar (1–4%)
Curvature of digit	Neînregistrat
Finger joint hyperextensibility	Neînregistrat
Multiple plantar creases	Neînregistrat
Radial deviation of finger	Neînregistrat

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Întotdeauna
Short stature	Întotdeauna
Faltering weight	Foarte des (80–99%)
Faltering weight in infancy	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Abdominal obesity	Des (30–79%)
Birth weight > 90th percentile	Des (30–79%)
Increased body weight	Des (30–79%)
Obesity	Des (30–79%)
Truncal obesity	Des (30–79%)
Growth delay as children	Uneori (5–29%)
Proportionate short stature	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Întotdeauna
Low-set ears	Întotdeauna
Sensorineural hearing impairment	Întotdeauna
Thickened helices	Întotdeauna
Severe sensorineural hearing impairment	Foarte des (80–99%)
Large earlobe	Des (30–79%)
Large ears	Des (30–79%)
Aplasia of the semicircular canal	Uneori (5–29%)
Hearing impairment	Uneori (5–29%)
Dizziness	Rar (1–4%)
Earlobe crease	Neînregistrat

Laboratory abnormality

Trăsătură	Cât de frecvent apare
High urine cortisol level	Foarte des (80–99%)
Diabetes mellitus	Des (30–79%)
Impaired glucose tolerance	Des (30–79%)
Chylothorax	Uneori (5–29%)
Noninsulin-dependent diabetes	Uneori (5–29%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Abnormality of the immune system

Trăsătură	Cât de frecvent apare
Acne	Des (30–79%)
Decreased immune function	Des (30–79%)
Recurrent cutaneous fungal infections	Uneori (5–29%)
Recurrent infections	Rar (1–4%)
Baby eczema	Neînregistrat

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Abnormality of the respiratory system	Uneori (5–29%)
Alveolar cell carcinoma	Neînregistrat
Lung adenocarcinoma	Neînregistrat
Non-small cell lung carcinoma	Neînregistrat

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Uneori (5–29%)
Malignant peripheral nerve sheath tumor	Neînregistrat

Abnormality of prenatal development or birth

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

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Întotdeauna

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	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 BRAF și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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