Egenskaper

Egenskaper kopplade till BRAF

B-Raf proto-oncogene, serine/threonine kinase

Human Phenotype Ontology kopplar 359 egenskaper till BRAF, sorterade efter kroppssystem: drag som ses hos personer med ett av genens sällsynta tillstånd.

Abnormality of head or neck

Egenskap	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Absent eyebrow	Mycket ofta (80–99 %)
Broad opening between the eyelids	Mycket ofta (80–99 %)
Cystic hygroma	Mycket ofta (80–99 %)
Flattened bony protrusion above eyes	Mycket ofta (80–99 %)
Full cheeks	Mycket ofta (80–99 %)
High forehead	Mycket ofta (80–99 %)
High palate	Mycket ofta (80–99 %)
Little lower jaw	Mycket ofta (80–99 %)
Long face	Mycket ofta (80–99 %)
Midface retrusion	Mycket ofta (80–99 %)
Nasal tip, upturned	Mycket ofta (80–99 %)
Sparse or absent eyebrows	Mycket ofta (80–99 %)
Sparse scalp hair	Mycket ofta (80–99 %)
Thickened skin folds of neck	Mycket ofta (80–99 %)
Triangular face	Mycket ofta (80–99 %)
Abnormality of the chin	Ofta (30–79 %)
Abnormality of the face	Ofta (30–79 %)
Broad forehead	Ofta (30–79 %)
Cheekbone underdevelopment	Ofta (30–79 %)
Dark color of gums	Ofta (30–79 %)
Decreased width of the skull	Ofta (30–79 %)
Deep philtrum	Ofta (30–79 %)
Eye folds	Ofta (30–79 %)
Frontal bossing	Ofta (30–79 %)
Full lips	Ofta (30–79 %)
Moon face	Ofta (30–79 %)
Sparse or absent eyelashes	Ofta (30–79 %)
Wide nasal bridge	Ofta (30–79 %)
Big sella turcica	Ibland (5–29 %)
Broad head shape	Ibland (5–29 %)
Cleft palate	Ibland (5–29 %)
Submucous cleft hard palate	Ibland (5–29 %)
Abnormality of the bone of the forehead	Sällan (1–4%)
Abnormality of the nasal bone	Sällan (1–4%)
Abnormal dentition	Inte registrerat
Absent eyelashes	Inte registrerat
Bad bite	Inte registrerat
High, narrow palate	Inte registrerat
Open bite	Inte registrerat
Open mouth	Inte registrerat
Relatively large head	Inte registrerat

Abnormality of the integument

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

Abnormality of the nervous system

Egenskap	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Difficulty articulating speech	Mycket ofta (80–99 %)
Global developmental delay	Mycket ofta (80–99 %)
Intracranial cystic lesion	Mycket ofta (80–99 %)
Autism	Ofta (30–79 %)
Behavioral abnormality	Ofta (30–79 %)
Can't control feelings	Ofta (30–79 %)
Difficulty sleeping	Ofta (30–79 %)
EEG abnormality	Ofta (30–79 %)
Excessive daytime sleepiness	Ofta (30–79 %)
Headache	Ofta (30–79 %)
Motor delay	Ofta (30–79 %)
Neurodevelopmental delay	Ofta (30–79 %)
Cancer of early nerve cells	Ibland (5–29 %)
Depression	Ibland (5–29 %)
Increased appetite	Ibland (5–29 %)
Intellectual disability, mild	Ibland (5–29 %)
Memory impairment	Ibland (5–29 %)
Pauses in breathing while sleeping	Ibland (5–29 %)
Peripheral axonal neuropathy	Ibland (5–29 %)
Pressure on spinal cord	Ibland (5–29 %)
Psychotic episodes	Ibland (5–29 %)
Rise in pressure inside skull	Ibland (5–29 %)
Specific learning disability	Ibland (5–29 %)
Spina bifida occulta	Ibland (5–29 %)
Suicidal ideation	Ibland (5–29 %)
Too much cerebrospinal fluid in the brain	Ibland (5–29 %)
Coma	Sällan (1–4%)
Dementia	Sällan (1–4%)
Panic attack	Sällan (1–4%)
Paranoia	Sällan (1–4%)
Psychosis	Sällan (1–4%)
Aplasia/Hypoplasia of the corpus callosum	Inte registrerat
Cognitive impairment	Inte registrerat
Tongue thrusting	Inte registrerat
Underdeveloped frontal lobe	Inte registrerat

Abnormality of the cardiovascular system

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

Abnormality of the musculoskeletal system

Egenskap	Hur ofta den förekommer
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	Mycket ofta (80–99 %)
Double-Jointed	Mycket ofta (80–99 %)
Generalized decreased muscle tone	Mycket ofta (80–99 %)
Low muscle tone	Mycket ofta (80–99 %)
Muscle weakness	Mycket ofta (80–99 %)
Pigeon chest	Mycket ofta (80–99 %)
Fatiguable weakness of proximal limb muscles	Ofta (30–79 %)
High shoulder blade	Ofta (30–79 %)
Osteoporosis	Ofta (30–79 %)
Wasting of muscles near the body	Ofta (30–79 %)
Abnormality of the sternum	Ibland (5–29 %)
Compression fracture of a vertebral body	Ibland (5–29 %)
Increased susceptibility to fractures	Ibland (5–29 %)
Osteopenia	Ibland (5–29 %)
Death of bone due to decreased blood supply	Sällan (1–4%)
Hypophosphatemic rickets	Sällan (1–4%)
Kyphoscoliosis	Inte registrerat
Pectus excavatum of inferior sternum	Inte registrerat
Spasticity and rigidity of muscles	Inte registrerat
Superior pectus carinatum	Inte registrerat
Synovitis	Inte registrerat

Abnormality of the eye

Egenskap	Hur ofta den förekommer
Blue eyes	Alltid
Bulging eye	Alltid
Farsightedness	Alltid
Wide-set eyes	Alltid
Abnormality of the eye	Mycket ofta (80–99 %)
Abnormality of vision	Mycket ofta (80–99 %)
Drooping upper eyelid	Mycket ofta (80–99 %)
Abnormal visual field test	Ofta (30–79 %)
Bitemporal hemianopia	Ofta (30–79 %)
Close sighted	Ofta (30–79 %)
Cross-eyed	Ofta (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ofta (30–79 %)
Papilledema	Ofta (30–79 %)
Progressive visual field defects	Ofta (30–79 %)
Slow decrease in sharpness of vision	Ofta (30–79 %)
Cerebral visual impairment	Ibland (5–29 %)
Optic atrophy	Ibland (5–29 %)
Optic nerve compression	Sällan (1–4%)
Partial loss of field of vision	Sällan (1–4%)
Sudden decrease in vision	Sällan (1–4%)
Oculomotor apraxia	Inte registrerat
Optic nerve dysplasia	Inte registrerat
Progressive loss of vision	Inte registrerat
Uveal melanoma	Inte registrerat

Abnormality of the digestive system

Egenskap	Hur ofta den förekommer
Feeding difficulties	Alltid
Absent/small abdominal wall muscles	Mycket ofta (80–99 %)
Feeding difficulties in infancy	Mycket ofta (80–99 %)
Impaired oropharyngeal swallow response	Mycket ofta (80–99 %)
Poor suck	Mycket ofta (80–99 %)
Abnormality of esophagus structure	Ofta (30–79 %)
Enlarged liver	Ofta (30–79 %)
Gastrostomy tube feeding in infancy	Ofta (30–79 %)
Nasogastric tube feeding in infancy	Ofta (30–79 %)
Nausea and vomiting	Ofta (30–79 %)
Abnormality of the gastrointestinal tract	Ibland (5–29 %)
Functional abnormality of the gastrointestinal tract	Ibland (5–29 %)
Acid reflux	Inte registrerat
Colon cancer	Inte registrerat
Constipation	Inte registrerat
Hereditary nonpolyposis colorectal carcinoma	Inte registrerat
Poor swallowing	Inte registrerat
Stomach tumor	Inte registrerat
Vomiting	Inte registrerat

Abnormality of the endocrine system

Egenskap	Hur ofta den förekommer
Enlarged pituitary gland	Mycket ofta (80–99 %)
Hypogonadotropic hypogonadism	Mycket ofta (80–99 %)
Hypopituitarism	Mycket ofta (80–99 %)
Increased circulating cortisol level	Mycket ofta (80–99 %)
Neoplasm of the anterior pituitary	Mycket ofta (80–99 %)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Mycket ofta (80–99 %)
Pituitary corticotropic cell adenoma	Mycket ofta (80–99 %)
Central adrenal insufficiency	Ofta (30–79 %)
Central diabetes insipidus	Ofta (30–79 %)
Decreased activity of gonads	Ofta (30–79 %)
Enlarged adrenal glands	Ofta (30–79 %)
Increased circulating ACTH level	Ofta (30–79 %)
Increased circulating prolactin concentration	Ofta (30–79 %)
Low thyroid gland function due to abnormal pituitary gland	Ofta (30–79 %)
Delayed puberty	Ibland (5–29 %)
Delayed start of first period	Ibland (5–29 %)
Premature breast development	Sällan (1–4%)

Abnormality of the genitourinary system

Egenskap	Hur ofta den förekommer
Abnormality of the reproductive system	Mycket ofta (80–99 %)
Undescended testes	Mycket ofta (80–99 %)
Abnormal absence of menstruation	Ofta (30–79 %)
Decreased fertility	Ofta (30–79 %)
Abnormal libido	Ibland (5–29 %)
Abnormal localisation of kidneys	Ibland (5–29 %)
Dilatation of the renal pelvis	Ibland (5–29 %)
Hydronephrosis	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)
Light or infrequent menstrual periods	Ibland (5–29 %)
Previous menstrual periods stop	Ibland (5–29 %)
Cancer starting in small tubes in kidneys	Inte registrerat
Male infertility	Inte registrerat
Transitional cell carcinoma of the bladder	Inte registrerat
Uterine leiomyosarcoma	Inte registrerat

Abnormality of blood and blood-forming tissues

Egenskap	Hur ofta den förekommer
Abnormal platelet function	Ofta (30–79 %)
Abnormality of coagulation	Ofta (30–79 %)
Bleeding tendency	Ofta (30–79 %)
Bruising susceptibility	Ofta (30–79 %)
Decreased blood lymphocyte number	Ofta (30–79 %)
Decreased total eosinophil count	Ofta (30–79 %)
Elevated white blood count	Ofta (30–79 %)
Blood spots	Ibland (5–29 %)
Ecchymosis	Ibland (5–29 %)
Juvenile myelomonocytic leukemia	Ibland (5–29 %)
Myelodysplasia	Ibland (5–29 %)
Amegakaryocytic thrombocytopenia	Inte registrerat
Reduced factor XII activity	Inte registrerat
Reduced factor XIII activity	Inte registrerat

Abnormality of limbs

Egenskap	Hur ofta den förekommer
Curvature of little finger	Alltid
Outward turned elbows	Alltid
Thickening of palms and soles	Mycket ofta (80–99 %)
Abnormal morphology of ulna	Ofta (30–79 %)
Deep palm line	Ofta (30–79 %)
Winged shoulder blade	Ofta (30–79 %)
Fused forearm bones	Ibland (5–29 %)
Knock knees	Ibland (5–29 %)
Short fingers or toes	Ibland (5–29 %)
Fluid accumulation in lower limbs	Sällan (1–4%)
Curvature of digit	Inte registrerat
Finger joint hyperextensibility	Inte registrerat
Multiple plantar creases	Inte registrerat
Radial deviation of finger	Inte registrerat

Growth abnormality

Egenskap	Hur ofta den förekommer
Growth delay	Alltid
Short stature	Alltid
Faltering weight	Mycket ofta (80–99 %)
Faltering weight in infancy	Mycket ofta (80–99 %)
Prenatal growth deficiency	Mycket ofta (80–99 %)
Abdominal obesity	Ofta (30–79 %)
Birth weight > 90th percentile	Ofta (30–79 %)
Increased body weight	Ofta (30–79 %)
Obesity	Ofta (30–79 %)
Truncal obesity	Ofta (30–79 %)
Growth delay as children	Ibland (5–29 %)
Proportionate short stature	Ibland (5–29 %)

Abnormality of the ear

Egenskap	Hur ofta den förekommer
Ears rotated toward back of head	Alltid
Low-set ears	Alltid
Sensorineural hearing impairment	Alltid
Thickened helices	Alltid
Severe sensorineural hearing impairment	Mycket ofta (80–99 %)
Large earlobe	Ofta (30–79 %)
Large ears	Ofta (30–79 %)
Aplasia of the semicircular canal	Ibland (5–29 %)
Hearing impairment	Ibland (5–29 %)
Dizziness	Sällan (1–4%)
Earlobe crease	Inte registrerat

Laboratory abnormality

Egenskap	Hur ofta den förekommer
High urine cortisol level	Mycket ofta (80–99 %)
Diabetes mellitus	Ofta (30–79 %)
Impaired glucose tolerance	Ofta (30–79 %)
Chylothorax	Ibland (5–29 %)
Noninsulin-dependent diabetes	Ibland (5–29 %)
Swelling caused by excess lymph fluid under skin	Ibland (5–29 %)

Abnormality of the immune system

Egenskap	Hur ofta den förekommer
Acne	Ofta (30–79 %)
Decreased immune function	Ofta (30–79 %)
Recurrent cutaneous fungal infections	Ibland (5–29 %)
Recurrent infections	Sällan (1–4%)
Baby eczema	Inte registrerat

Abnormality of the respiratory system

Egenskap	Hur ofta den förekommer
Abnormality of the respiratory system	Ibland (5–29 %)
Alveolar cell carcinoma	Inte registrerat
Lung adenocarcinoma	Inte registrerat
Non-small cell lung carcinoma	Inte registrerat

Abnormal tissue mass

Egenskap	Hur ofta den förekommer
Cancer of skin pigment cells	Ibland (5–29 %)
Malignant peripheral nerve sheath tumor	Inte registrerat

Abnormality of prenatal development or birth

Egenskap	Hur ofta den förekommer
Premature birth	Ofta (30–79 %)
High levels of amniotic fluid	Inte registrerat

Abnormality of the breast

Egenskap	Hur ofta den förekommer
Wide-spaced nipples	Alltid

Abnormality of the voice

Egenskap	Hur ofta den förekommer
Abnormality of the voice	Ibland (5–29 %)

Hur ofta det förekommer hos personer med ett av genens tillstånd, den vanligaste frekvensen bland dem, enligt Human Phenotype Ontology. Dessa sidor beskriver egenskaper och forskningen bakom dem. De är inte en diagnos, och det är läkare eller genetisk rådgivare du bör fråga om symtom.

Varifrån informationen kommer

Human Phenotype Ontology, version 2026-09-01: egenskaperna som kopplas till BRAF och hur ofta varje egenskap ses. Läs mer på hpo.jax.org.

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