Kjennetegn

Kjennetegn knyttet til BRAF

B-Raf proto-oncogene, serine/threonine kinase

Human Phenotype Ontology knytter 359 kjennetegn til BRAF, sortert etter kroppssystem: trekk som ses hos personer med en av genets sjeldne tilstander.

Abnormality of head or neck

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

Abnormality of the integument

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

Kjennetegn	Hvor ofte den forekommer
Increased spleen size	Alltid
Abnormal cardiovascular system morphology	Svært ofte (80–99 %)
Abnormal EKG	Svært ofte (80–99 %)
Abnormal heart rate	Svært ofte (80–99 %)
Abnormal heart valve morphology	Svært ofte (80–99 %)
Abnormal pulmonary valve morphology	Svært ofte (80–99 %)
Abnormality of lung artery	Svært ofte (80–99 %)
An opening in the wall separating the top two chambers of the heart	Svært ofte (80–99 %)
Bundle branch block	Svært ofte (80–99 %)
Enlarged and thickened heart muscle	Svært ofte (80–99 %)
Narrowing of lung artery	Svært ofte (80–99 %)
Narrowing of pulmonic valve	Svært ofte (80–99 %)
Abnormal mitral valve morphology	Ofte (30–79 %)
Abnormality of the cardiovascular system	Ofte (30–79 %)
Abnormality of the lymphatic system	Ofte (30–79 %)
Abnormality of the spleen	Ofte (30–79 %)
Capillary fragility	Ofte (30–79 %)
Collection of dilated blood vessels that forms mass	Ofte (30–79 %)
Disease of the heart muscle	Ofte (30–79 %)
High blood pressure	Ofte (30–79 %)
Hole in center of heart	Ofte (30–79 %)
Mitral valve prolapse	Ofte (30–79 %)
Tetralogy of Fallot	Ofte (30–79 %)
Abnormal endocardium morphology	Noen ganger (5–29 %)
Aneurysm	Noen ganger (5–29 %)
Disruption of blood oxygen supply to brain	Noen ganger (5–29 %)
Heart attack	Noen ganger (5–29 %)
Livedo reticularis	Noen ganger (5–29 %)
Narrowing of aorta	Noen ganger (5–29 %)
Stroke	Noen ganger (5–29 %)
Hole in heart wall separating two lower heart chambers	Sjelden (1–4%)
Patent ductus arteriosus	Sjelden (1–4%)
Abnormal aortic valve morphology	Ikke registrert

Abnormality of the musculoskeletal system

Kjennetegn	Hvor ofte den forekommer
Delayed bone maturation	Alltid
Funnel chest	Alltid
Low muscle tone, in neonatal onset	Alltid
Scoliosis	Alltid
Shield chest	Alltid
Wide rib cage	Alltid
Abnormal deposits of calcium in the brain	Svært ofte (80–99 %)
Double-Jointed	Svært ofte (80–99 %)
Generalized decreased muscle tone	Svært ofte (80–99 %)
Low muscle tone	Svært ofte (80–99 %)
Muscle weakness	Svært ofte (80–99 %)
Pigeon chest	Svært ofte (80–99 %)
Fatiguable weakness of proximal limb muscles	Ofte (30–79 %)
High shoulder blade	Ofte (30–79 %)
Osteoporosis	Ofte (30–79 %)
Wasting of muscles near the body	Ofte (30–79 %)
Abnormality of the sternum	Noen ganger (5–29 %)
Compression fracture of a vertebral body	Noen ganger (5–29 %)
Increased susceptibility to fractures	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Death of bone due to decreased blood supply	Sjelden (1–4%)
Hypophosphatemic rickets	Sjelden (1–4%)
Kyphoscoliosis	Ikke registrert
Pectus excavatum of inferior sternum	Ikke registrert
Spasticity and rigidity of muscles	Ikke registrert
Superior pectus carinatum	Ikke registrert
Synovitis	Ikke registrert

Abnormality of the eye

Kjennetegn	Hvor ofte den forekommer
Blue eyes	Alltid
Bulging eye	Alltid
Farsightedness	Alltid
Wide-set eyes	Alltid
Abnormality of the eye	Svært ofte (80–99 %)
Abnormality of vision	Svært ofte (80–99 %)
Drooping upper eyelid	Svært ofte (80–99 %)
Abnormal visual field test	Ofte (30–79 %)
Bitemporal hemianopia	Ofte (30–79 %)
Close sighted	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofte (30–79 %)
Papilledema	Ofte (30–79 %)
Progressive visual field defects	Ofte (30–79 %)
Slow decrease in sharpness of vision	Ofte (30–79 %)
Cerebral visual impairment	Noen ganger (5–29 %)
Optic atrophy	Noen ganger (5–29 %)
Optic nerve compression	Sjelden (1–4%)
Partial loss of field of vision	Sjelden (1–4%)
Sudden decrease in vision	Sjelden (1–4%)
Oculomotor apraxia	Ikke registrert
Optic nerve dysplasia	Ikke registrert
Progressive loss of vision	Ikke registrert
Uveal melanoma	Ikke registrert

Abnormality of the digestive system

Kjennetegn	Hvor ofte den forekommer
Feeding difficulties	Alltid
Absent/small abdominal wall muscles	Svært ofte (80–99 %)
Feeding difficulties in infancy	Svært ofte (80–99 %)
Impaired oropharyngeal swallow response	Svært ofte (80–99 %)
Poor suck	Svært ofte (80–99 %)
Abnormality of esophagus structure	Ofte (30–79 %)
Enlarged liver	Ofte (30–79 %)
Gastrostomy tube feeding in infancy	Ofte (30–79 %)
Nasogastric tube feeding in infancy	Ofte (30–79 %)
Nausea and vomiting	Ofte (30–79 %)
Abnormality of the gastrointestinal tract	Noen ganger (5–29 %)
Functional abnormality of the gastrointestinal tract	Noen ganger (5–29 %)
Acid reflux	Ikke registrert
Colon cancer	Ikke registrert
Constipation	Ikke registrert
Hereditary nonpolyposis colorectal carcinoma	Ikke registrert
Poor swallowing	Ikke registrert
Stomach tumor	Ikke registrert
Vomiting	Ikke registrert

Abnormality of the endocrine system

Kjennetegn	Hvor ofte den forekommer
Enlarged pituitary gland	Svært ofte (80–99 %)
Hypogonadotropic hypogonadism	Svært ofte (80–99 %)
Hypopituitarism	Svært ofte (80–99 %)
Increased circulating cortisol level	Svært ofte (80–99 %)
Neoplasm of the anterior pituitary	Svært ofte (80–99 %)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Svært ofte (80–99 %)
Pituitary corticotropic cell adenoma	Svært ofte (80–99 %)
Central adrenal insufficiency	Ofte (30–79 %)
Central diabetes insipidus	Ofte (30–79 %)
Decreased activity of gonads	Ofte (30–79 %)
Enlarged adrenal glands	Ofte (30–79 %)
Increased circulating ACTH level	Ofte (30–79 %)
Increased circulating prolactin concentration	Ofte (30–79 %)
Low thyroid gland function due to abnormal pituitary gland	Ofte (30–79 %)
Delayed puberty	Noen ganger (5–29 %)
Delayed start of first period	Noen ganger (5–29 %)
Premature breast development	Sjelden (1–4%)

Abnormality of the genitourinary system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the reproductive system	Svært ofte (80–99 %)
Undescended testes	Svært ofte (80–99 %)
Abnormal absence of menstruation	Ofte (30–79 %)
Decreased fertility	Ofte (30–79 %)
Abnormal libido	Noen ganger (5–29 %)
Abnormal localisation of kidneys	Noen ganger (5–29 %)
Dilatation of the renal pelvis	Noen ganger (5–29 %)
Hydronephrosis	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)
Light or infrequent menstrual periods	Noen ganger (5–29 %)
Previous menstrual periods stop	Noen ganger (5–29 %)
Cancer starting in small tubes in kidneys	Ikke registrert
Male infertility	Ikke registrert
Transitional cell carcinoma of the bladder	Ikke registrert
Uterine leiomyosarcoma	Ikke registrert

Abnormality of blood and blood-forming tissues

Kjennetegn	Hvor ofte den forekommer
Abnormal platelet function	Ofte (30–79 %)
Abnormality of coagulation	Ofte (30–79 %)
Bleeding tendency	Ofte (30–79 %)
Bruising susceptibility	Ofte (30–79 %)
Decreased blood lymphocyte number	Ofte (30–79 %)
Decreased total eosinophil count	Ofte (30–79 %)
Elevated white blood count	Ofte (30–79 %)
Blood spots	Noen ganger (5–29 %)
Ecchymosis	Noen ganger (5–29 %)
Juvenile myelomonocytic leukemia	Noen ganger (5–29 %)
Myelodysplasia	Noen ganger (5–29 %)
Amegakaryocytic thrombocytopenia	Ikke registrert
Reduced factor XII activity	Ikke registrert
Reduced factor XIII activity	Ikke registrert

Abnormality of limbs

Kjennetegn	Hvor ofte den forekommer
Curvature of little finger	Alltid
Outward turned elbows	Alltid
Thickening of palms and soles	Svært ofte (80–99 %)
Abnormal morphology of ulna	Ofte (30–79 %)
Deep palm line	Ofte (30–79 %)
Winged shoulder blade	Ofte (30–79 %)
Fused forearm bones	Noen ganger (5–29 %)
Knock knees	Noen ganger (5–29 %)
Short fingers or toes	Noen ganger (5–29 %)
Fluid accumulation in lower limbs	Sjelden (1–4%)
Curvature of digit	Ikke registrert
Finger joint hyperextensibility	Ikke registrert
Multiple plantar creases	Ikke registrert
Radial deviation of finger	Ikke registrert

Growth abnormality

Kjennetegn	Hvor ofte den forekommer
Growth delay	Alltid
Short stature	Alltid
Faltering weight	Svært ofte (80–99 %)
Faltering weight in infancy	Svært ofte (80–99 %)
Prenatal growth deficiency	Svært ofte (80–99 %)
Abdominal obesity	Ofte (30–79 %)
Birth weight > 90th percentile	Ofte (30–79 %)
Increased body weight	Ofte (30–79 %)
Obesity	Ofte (30–79 %)
Truncal obesity	Ofte (30–79 %)
Growth delay as children	Noen ganger (5–29 %)
Proportionate short stature	Noen ganger (5–29 %)

Abnormality of the ear

Kjennetegn	Hvor ofte den forekommer
Ears rotated toward back of head	Alltid
Low-set ears	Alltid
Sensorineural hearing impairment	Alltid
Thickened helices	Alltid
Severe sensorineural hearing impairment	Svært ofte (80–99 %)
Large earlobe	Ofte (30–79 %)
Large ears	Ofte (30–79 %)
Aplasia of the semicircular canal	Noen ganger (5–29 %)
Hearing impairment	Noen ganger (5–29 %)
Dizziness	Sjelden (1–4%)
Earlobe crease	Ikke registrert

Laboratory abnormality

Kjennetegn	Hvor ofte den forekommer
High urine cortisol level	Svært ofte (80–99 %)
Diabetes mellitus	Ofte (30–79 %)
Impaired glucose tolerance	Ofte (30–79 %)
Chylothorax	Noen ganger (5–29 %)
Noninsulin-dependent diabetes	Noen ganger (5–29 %)
Swelling caused by excess lymph fluid under skin	Noen ganger (5–29 %)

Abnormality of the immune system

Kjennetegn	Hvor ofte den forekommer
Acne	Ofte (30–79 %)
Decreased immune function	Ofte (30–79 %)
Recurrent cutaneous fungal infections	Noen ganger (5–29 %)
Recurrent infections	Sjelden (1–4%)
Baby eczema	Ikke registrert

Abnormality of the respiratory system

Kjennetegn	Hvor ofte den forekommer
Abnormality of the respiratory system	Noen ganger (5–29 %)
Alveolar cell carcinoma	Ikke registrert
Lung adenocarcinoma	Ikke registrert
Non-small cell lung carcinoma	Ikke registrert

Abnormal tissue mass

Kjennetegn	Hvor ofte den forekommer
Cancer of skin pigment cells	Noen ganger (5–29 %)
Malignant peripheral nerve sheath tumor	Ikke registrert

Abnormality of prenatal development or birth

Kjennetegn	Hvor ofte den forekommer
Premature birth	Ofte (30–79 %)
High levels of amniotic fluid	Ikke registrert

Abnormality of the breast

Kjennetegn	Hvor ofte den forekommer
Wide-spaced nipples	Alltid

Abnormality of the voice

Kjennetegn	Hvor ofte den forekommer
Abnormality of the voice	Noen ganger (5–29 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

Human Phenotype Ontology, versjon 2026-09-01: kjennetegnene knyttet til BRAF og hvor ofte hvert enn observeres. Finn ut mer på hpo.jax.org.

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