Požymiai

Su BRAF susiję požymiai

B-Raf proto-oncogene, serine/threonine kinase

Žmogaus fenotipo ontologija sieja 359 požymių su BRAF, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Big calvaria	Visada
Broad neck	Visada
Bulbous nose	Visada
Coarse facial features	Visada
Depressed nasal bridge	Visada
Downward slanting of the opening between the eyelids	Visada
Full lower lip	Visada
Long philtrum	Visada
Long, narrow head	Visada
Low hairline at back of neck	Visada
Narrow forehead	Visada
Palpebral thickening	Visada
Prominent forehead	Visada
Short neck	Visada
Short nose	Visada
Sparse eyebrow	Visada
Webbed neck	Visada
Abnormal eyelashes	Labai dažnai (80–99%)
Absent eyebrow	Labai dažnai (80–99%)
Broad opening between the eyelids	Labai dažnai (80–99%)
Cystic hygroma	Labai dažnai (80–99%)
Flattened bony protrusion above eyes	Labai dažnai (80–99%)
Full cheeks	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Long face	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Nasal tip, upturned	Labai dažnai (80–99%)
Sparse or absent eyebrows	Labai dažnai (80–99%)
Sparse scalp hair	Labai dažnai (80–99%)
Thickened skin folds of neck	Labai dažnai (80–99%)
Triangular face	Labai dažnai (80–99%)
Abnormality of the chin	Dažnai (30–79%)
Abnormality of the face	Dažnai (30–79%)
Broad forehead	Dažnai (30–79%)
Cheekbone underdevelopment	Dažnai (30–79%)
Dark color of gums	Dažnai (30–79%)
Decreased width of the skull	Dažnai (30–79%)
Deep philtrum	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Frontal bossing	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Moon face	Dažnai (30–79%)
Sparse or absent eyelashes	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Big sella turcica	Kartais (5–29%)
Broad head shape	Kartais (5–29%)
Cleft palate	Kartais (5–29%)
Submucous cleft hard palate	Kartais (5–29%)
Abnormality of the bone of the forehead	Retai (1–4 %)
Abnormality of the nasal bone	Retai (1–4 %)
Abnormal dentition	Neužfiksuota
Absent eyelashes	Neužfiksuota
Bad bite	Neužfiksuota
High, narrow palate	Neužfiksuota
Open bite	Neužfiksuota
Open mouth	Neužfiksuota
Relatively large head	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Curly hair	Visada
Dry skin	Visada
Few cafe-au-lait spots	Visada
Hyperkeratosis	Visada
Liver spots	Visada
Numerous moles	Visada
Abnormal skin pigmentation	Labai dažnai (80–99%)
Beauty mark	Labai dažnai (80–99%)
Brittle hair	Labai dažnai (80–99%)
Excessive sweating	Labai dažnai (80–99%)
Excessive wrinkled skin	Labai dažnai (80–99%)
Fine hair	Labai dažnai (80–99%)
Firm lump under the skin	Labai dažnai (80–99%)
Freckling	Labai dažnai (80–99%)
Giant pigmented mole	Labai dažnai (80–99%)
Hyperelastic skin	Labai dažnai (80–99%)
Mole	Labai dažnai (80–99%)
Papule	Labai dažnai (80–99%)
Abnormal blistering of the skin	Dažnai (30–79%)
Abnormal fingerprints	Dažnai (30–79%)
Abnormal hair quantity	Dažnai (30–79%)
Buffalo hump	Dažnai (30–79%)
Chicken skin	Dažnai (30–79%)
Coarse hair	Dažnai (30–79%)
Excessive hairiness	Dažnai (30–79%)
Generalized hyperpigmentation	Dažnai (30–79%)
Ichthyosis	Dažnai (30–79%)
Lack of sweating	Dažnai (30–79%)
Lentigo maligna melanoma	Dažnai (30–79%)
Multiple birthmarks	Dažnai (30–79%)
Patchy darkened skin	Dažnai (30–79%)
Plethora	Dažnai (30–79%)
Poor fingernail formation	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Slow-growing hair	Dažnai (30–79%)
Sparse hair	Dažnai (30–79%)
Stretch marks	Dažnai (30–79%)
Thin skin	Dažnai (30–79%)
Afro-textured hair	Kartais (5–29%)
Birthmark	Kartais (5–29%)
Cutaneous melanoma	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)
Flushing	Kartais (5–29%)
Itching	Kartais (5–29%)
Loose redundant skin	Kartais (5–29%)
Nevus sebaceous	Kartais (5–29%)
Open skin sore	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Atypical mole	Neužfiksuota
Atypical nevi in non-sun exposed areas	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal shape of hypothalamus	Visada
Decrease in size of the outer layer of the brain due to loss of brain cells	Visada
Degeneration of cerebrum	Visada
Epilepsy	Visada
Intellectual disability	Visada
Intellectual disability, severe	Visada
Severe global developmental delay	Visada
Abnormal speech pattern	Labai dažnai (80–99%)
Difficulty articulating speech	Labai dažnai (80–99%)
Global developmental delay	Labai dažnai (80–99%)
Intracranial cystic lesion	Labai dažnai (80–99%)
Autism	Dažnai (30–79%)
Behavioral abnormality	Dažnai (30–79%)
Can't control feelings	Dažnai (30–79%)
Difficulty sleeping	Dažnai (30–79%)
EEG abnormality	Dažnai (30–79%)
Excessive daytime sleepiness	Dažnai (30–79%)
Headache	Dažnai (30–79%)
Motor delay	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Cancer of early nerve cells	Kartais (5–29%)
Depression	Kartais (5–29%)
Increased appetite	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Memory impairment	Kartais (5–29%)
Pauses in breathing while sleeping	Kartais (5–29%)
Peripheral axonal neuropathy	Kartais (5–29%)
Pressure on spinal cord	Kartais (5–29%)
Psychotic episodes	Kartais (5–29%)
Rise in pressure inside skull	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)
Suicidal ideation	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)
Coma	Retai (1–4 %)
Dementia	Retai (1–4 %)
Panic attack	Retai (1–4 %)
Paranoia	Retai (1–4 %)
Psychosis	Retai (1–4 %)
Aplasia/Hypoplasia of the corpus callosum	Neužfiksuota
Cognitive impairment	Neužfiksuota
Tongue thrusting	Neužfiksuota
Underdeveloped frontal lobe	Neužfiksuota

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Increased spleen size	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal EKG	Labai dažnai (80–99%)
Abnormal heart rate	Labai dažnai (80–99%)
Abnormal heart valve morphology	Labai dažnai (80–99%)
Abnormal pulmonary valve morphology	Labai dažnai (80–99%)
Abnormality of lung artery	Labai dažnai (80–99%)
An opening in the wall separating the top two chambers of the heart	Labai dažnai (80–99%)
Bundle branch block	Labai dažnai (80–99%)
Enlarged and thickened heart muscle	Labai dažnai (80–99%)
Narrowing of lung artery	Labai dažnai (80–99%)
Narrowing of pulmonic valve	Labai dažnai (80–99%)
Abnormal mitral valve morphology	Dažnai (30–79%)
Abnormality of the cardiovascular system	Dažnai (30–79%)
Abnormality of the lymphatic system	Dažnai (30–79%)
Abnormality of the spleen	Dažnai (30–79%)
Capillary fragility	Dažnai (30–79%)
Collection of dilated blood vessels that forms mass	Dažnai (30–79%)
Disease of the heart muscle	Dažnai (30–79%)
High blood pressure	Dažnai (30–79%)
Hole in center of heart	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Tetralogy of Fallot	Dažnai (30–79%)
Abnormal endocardium morphology	Kartais (5–29%)
Aneurysm	Kartais (5–29%)
Disruption of blood oxygen supply to brain	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Livedo reticularis	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Stroke	Kartais (5–29%)
Hole in heart wall separating two lower heart chambers	Retai (1–4 %)
Patent ductus arteriosus	Retai (1–4 %)
Abnormal aortic valve morphology	Neužfiksuota

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Delayed bone maturation	Visada
Funnel chest	Visada
Low muscle tone, in neonatal onset	Visada
Scoliosis	Visada
Shield chest	Visada
Wide rib cage	Visada
Abnormal deposits of calcium in the brain	Labai dažnai (80–99%)
Double-Jointed	Labai dažnai (80–99%)
Generalized decreased muscle tone	Labai dažnai (80–99%)
Low muscle tone	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Pigeon chest	Labai dažnai (80–99%)
Fatiguable weakness of proximal limb muscles	Dažnai (30–79%)
High shoulder blade	Dažnai (30–79%)
Osteoporosis	Dažnai (30–79%)
Wasting of muscles near the body	Dažnai (30–79%)
Abnormality of the sternum	Kartais (5–29%)
Compression fracture of a vertebral body	Kartais (5–29%)
Increased susceptibility to fractures	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Death of bone due to decreased blood supply	Retai (1–4 %)
Hypophosphatemic rickets	Retai (1–4 %)
Kyphoscoliosis	Neužfiksuota
Pectus excavatum of inferior sternum	Neužfiksuota
Spasticity and rigidity of muscles	Neužfiksuota
Superior pectus carinatum	Neužfiksuota
Synovitis	Neužfiksuota

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Blue eyes	Visada
Bulging eye	Visada
Farsightedness	Visada
Wide-set eyes	Visada
Abnormality of the eye	Labai dažnai (80–99%)
Abnormality of vision	Labai dažnai (80–99%)
Drooping upper eyelid	Labai dažnai (80–99%)
Abnormal visual field test	Dažnai (30–79%)
Bitemporal hemianopia	Dažnai (30–79%)
Close sighted	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Dažnai (30–79%)
Papilledema	Dažnai (30–79%)
Progressive visual field defects	Dažnai (30–79%)
Slow decrease in sharpness of vision	Dažnai (30–79%)
Cerebral visual impairment	Kartais (5–29%)
Optic atrophy	Kartais (5–29%)
Optic nerve compression	Retai (1–4 %)
Partial loss of field of vision	Retai (1–4 %)
Sudden decrease in vision	Retai (1–4 %)
Oculomotor apraxia	Neužfiksuota
Optic nerve dysplasia	Neužfiksuota
Progressive loss of vision	Neužfiksuota
Uveal melanoma	Neužfiksuota

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Feeding difficulties	Visada
Absent/small abdominal wall muscles	Labai dažnai (80–99%)
Feeding difficulties in infancy	Labai dažnai (80–99%)
Impaired oropharyngeal swallow response	Labai dažnai (80–99%)
Poor suck	Labai dažnai (80–99%)
Abnormality of esophagus structure	Dažnai (30–79%)
Enlarged liver	Dažnai (30–79%)
Gastrostomy tube feeding in infancy	Dažnai (30–79%)
Nasogastric tube feeding in infancy	Dažnai (30–79%)
Nausea and vomiting	Dažnai (30–79%)
Abnormality of the gastrointestinal tract	Kartais (5–29%)
Functional abnormality of the gastrointestinal tract	Kartais (5–29%)
Acid reflux	Neužfiksuota
Colon cancer	Neužfiksuota
Constipation	Neužfiksuota
Hereditary nonpolyposis colorectal carcinoma	Neužfiksuota
Poor swallowing	Neužfiksuota
Stomach tumor	Neužfiksuota
Vomiting	Neužfiksuota

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Enlarged pituitary gland	Labai dažnai (80–99%)
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Hypopituitarism	Labai dažnai (80–99%)
Increased circulating cortisol level	Labai dažnai (80–99%)
Neoplasm of the anterior pituitary	Labai dažnai (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Labai dažnai (80–99%)
Pituitary corticotropic cell adenoma	Labai dažnai (80–99%)
Central adrenal insufficiency	Dažnai (30–79%)
Central diabetes insipidus	Dažnai (30–79%)
Decreased activity of gonads	Dažnai (30–79%)
Enlarged adrenal glands	Dažnai (30–79%)
Increased circulating ACTH level	Dažnai (30–79%)
Increased circulating prolactin concentration	Dažnai (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Dažnai (30–79%)
Delayed puberty	Kartais (5–29%)
Delayed start of first period	Kartais (5–29%)
Premature breast development	Retai (1–4 %)

Abnormality of the genitourinary system

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

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Curvature of little finger	Visada
Outward turned elbows	Visada
Thickening of palms and soles	Labai dažnai (80–99%)
Abnormal morphology of ulna	Dažnai (30–79%)
Deep palm line	Dažnai (30–79%)
Winged shoulder blade	Dažnai (30–79%)
Fused forearm bones	Kartais (5–29%)
Knock knees	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)
Fluid accumulation in lower limbs	Retai (1–4 %)
Curvature of digit	Neužfiksuota
Finger joint hyperextensibility	Neužfiksuota
Multiple plantar creases	Neužfiksuota
Radial deviation of finger	Neužfiksuota

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Visada
Short stature	Visada
Faltering weight	Labai dažnai (80–99%)
Faltering weight in infancy	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Abdominal obesity	Dažnai (30–79%)
Birth weight > 90th percentile	Dažnai (30–79%)
Increased body weight	Dažnai (30–79%)
Obesity	Dažnai (30–79%)
Truncal obesity	Dažnai (30–79%)
Growth delay as children	Kartais (5–29%)
Proportionate short stature	Kartais (5–29%)

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Visada
Low-set ears	Visada
Sensorineural hearing impairment	Visada
Thickened helices	Visada
Severe sensorineural hearing impairment	Labai dažnai (80–99%)
Large earlobe	Dažnai (30–79%)
Large ears	Dažnai (30–79%)
Aplasia of the semicircular canal	Kartais (5–29%)
Hearing impairment	Kartais (5–29%)
Dizziness	Retai (1–4 %)
Earlobe crease	Neužfiksuota

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
High urine cortisol level	Labai dažnai (80–99%)
Diabetes mellitus	Dažnai (30–79%)
Impaired glucose tolerance	Dažnai (30–79%)
Chylothorax	Kartais (5–29%)
Noninsulin-dependent diabetes	Kartais (5–29%)
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)

Abnormality of the immune system

Požymis	Kaip dažnai pasireiškia
Acne	Dažnai (30–79%)
Decreased immune function	Dažnai (30–79%)
Recurrent cutaneous fungal infections	Kartais (5–29%)
Recurrent infections	Retai (1–4 %)
Baby eczema	Neužfiksuota

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Abnormality of the respiratory system	Kartais (5–29%)
Alveolar cell carcinoma	Neužfiksuota
Lung adenocarcinoma	Neužfiksuota
Non-small cell lung carcinoma	Neužfiksuota

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Kartais (5–29%)
Malignant peripheral nerve sheath tumor	Neužfiksuota

Abnormality of prenatal development or birth

Požymis	Kaip dažnai pasireiškia
Premature birth	Dažnai (30–79%)
High levels of amniotic fluid	Neužfiksuota

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	Visada

Abnormality of the voice

Požymis	Kaip dažnai pasireiškia
Abnormality of the voice	Kartais (5–29%)

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 BRAF susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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