Tunnused

Geeniga BRAF seotud tunnused

B-Raf proto-oncogene, serine/threonine kinase

Inimese fenotüübi ontoloogia seostab geeniga BRAF 359 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.

Abnormality of head or neck

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

Abnormality of the integument

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

Abnormality of the nervous system

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

Abnormality of the cardiovascular system

Tunnus	Kui sageli seda täheldatakse
Increased spleen size	Alati
Abnormal cardiovascular system morphology	Väga sageli (80–99%)
Abnormal EKG	Väga sageli (80–99%)
Abnormal heart rate	Väga sageli (80–99%)
Abnormal heart valve morphology	Väga sageli (80–99%)
Abnormal pulmonary valve morphology	Väga sageli (80–99%)
Abnormality of lung artery	Väga sageli (80–99%)
An opening in the wall separating the top two chambers of the heart	Väga sageli (80–99%)
Bundle branch block	Väga sageli (80–99%)
Enlarged and thickened heart muscle	Väga sageli (80–99%)
Narrowing of lung artery	Väga sageli (80–99%)
Narrowing of pulmonic valve	Väga sageli (80–99%)
Abnormal mitral valve morphology	Sageli (30–79%)
Abnormality of the cardiovascular system	Sageli (30–79%)
Abnormality of the lymphatic system	Sageli (30–79%)
Abnormality of the spleen	Sageli (30–79%)
Capillary fragility	Sageli (30–79%)
Collection of dilated blood vessels that forms mass	Sageli (30–79%)
Disease of the heart muscle	Sageli (30–79%)
High blood pressure	Sageli (30–79%)
Hole in center of heart	Sageli (30–79%)
Mitral valve prolapse	Sageli (30–79%)
Tetralogy of Fallot	Sageli (30–79%)
Abnormal endocardium morphology	Mõnikord (5–29%)
Aneurysm	Mõnikord (5–29%)
Disruption of blood oxygen supply to brain	Mõnikord (5–29%)
Heart attack	Mõnikord (5–29%)
Livedo reticularis	Mõnikord (5–29%)
Narrowing of aorta	Mõnikord (5–29%)
Stroke	Mõnikord (5–29%)
Hole in heart wall separating two lower heart chambers	Harva (1–4%)
Patent ductus arteriosus	Harva (1–4%)
Abnormal aortic valve morphology	Pole registreeritud

Abnormality of the musculoskeletal system

Tunnus	Kui sageli seda täheldatakse
Delayed bone maturation	Alati
Funnel chest	Alati
Low muscle tone, in neonatal onset	Alati
Scoliosis	Alati
Shield chest	Alati
Wide rib cage	Alati
Abnormal deposits of calcium in the brain	Väga sageli (80–99%)
Double-Jointed	Väga sageli (80–99%)
Generalized decreased muscle tone	Väga sageli (80–99%)
Low muscle tone	Väga sageli (80–99%)
Muscle weakness	Väga sageli (80–99%)
Pigeon chest	Väga sageli (80–99%)
Fatiguable weakness of proximal limb muscles	Sageli (30–79%)
High shoulder blade	Sageli (30–79%)
Osteoporosis	Sageli (30–79%)
Wasting of muscles near the body	Sageli (30–79%)
Abnormality of the sternum	Mõnikord (5–29%)
Compression fracture of a vertebral body	Mõnikord (5–29%)
Increased susceptibility to fractures	Mõnikord (5–29%)
Osteopenia	Mõnikord (5–29%)
Death of bone due to decreased blood supply	Harva (1–4%)
Hypophosphatemic rickets	Harva (1–4%)
Kyphoscoliosis	Pole registreeritud
Pectus excavatum of inferior sternum	Pole registreeritud
Spasticity and rigidity of muscles	Pole registreeritud
Superior pectus carinatum	Pole registreeritud
Synovitis	Pole registreeritud

Abnormality of the eye

Tunnus	Kui sageli seda täheldatakse
Blue eyes	Alati
Bulging eye	Alati
Farsightedness	Alati
Wide-set eyes	Alati
Abnormality of the eye	Väga sageli (80–99%)
Abnormality of vision	Väga sageli (80–99%)
Drooping upper eyelid	Väga sageli (80–99%)
Abnormal visual field test	Sageli (30–79%)
Bitemporal hemianopia	Sageli (30–79%)
Close sighted	Sageli (30–79%)
Cross-eyed	Sageli (30–79%)
Involuntary, rapid, rhythmic eye movements	Sageli (30–79%)
Papilledema	Sageli (30–79%)
Progressive visual field defects	Sageli (30–79%)
Slow decrease in sharpness of vision	Sageli (30–79%)
Cerebral visual impairment	Mõnikord (5–29%)
Optic atrophy	Mõnikord (5–29%)
Optic nerve compression	Harva (1–4%)
Partial loss of field of vision	Harva (1–4%)
Sudden decrease in vision	Harva (1–4%)
Oculomotor apraxia	Pole registreeritud
Optic nerve dysplasia	Pole registreeritud
Progressive loss of vision	Pole registreeritud
Uveal melanoma	Pole registreeritud

Abnormality of the digestive system

Tunnus	Kui sageli seda täheldatakse
Feeding difficulties	Alati
Absent/small abdominal wall muscles	Väga sageli (80–99%)
Feeding difficulties in infancy	Väga sageli (80–99%)
Impaired oropharyngeal swallow response	Väga sageli (80–99%)
Poor suck	Väga sageli (80–99%)
Abnormality of esophagus structure	Sageli (30–79%)
Enlarged liver	Sageli (30–79%)
Gastrostomy tube feeding in infancy	Sageli (30–79%)
Nasogastric tube feeding in infancy	Sageli (30–79%)
Nausea and vomiting	Sageli (30–79%)
Abnormality of the gastrointestinal tract	Mõnikord (5–29%)
Functional abnormality of the gastrointestinal tract	Mõnikord (5–29%)
Acid reflux	Pole registreeritud
Colon cancer	Pole registreeritud
Constipation	Pole registreeritud
Hereditary nonpolyposis colorectal carcinoma	Pole registreeritud
Poor swallowing	Pole registreeritud
Stomach tumor	Pole registreeritud
Vomiting	Pole registreeritud

Abnormality of the endocrine system

Tunnus	Kui sageli seda täheldatakse
Enlarged pituitary gland	Väga sageli (80–99%)
Hypogonadotropic hypogonadism	Väga sageli (80–99%)
Hypopituitarism	Väga sageli (80–99%)
Increased circulating cortisol level	Väga sageli (80–99%)
Neoplasm of the anterior pituitary	Väga sageli (80–99%)
Paradoxical increased cortisol secretion on dexamethasone suppression test	Väga sageli (80–99%)
Pituitary corticotropic cell adenoma	Väga sageli (80–99%)
Central adrenal insufficiency	Sageli (30–79%)
Central diabetes insipidus	Sageli (30–79%)
Decreased activity of gonads	Sageli (30–79%)
Enlarged adrenal glands	Sageli (30–79%)
Increased circulating ACTH level	Sageli (30–79%)
Increased circulating prolactin concentration	Sageli (30–79%)
Low thyroid gland function due to abnormal pituitary gland	Sageli (30–79%)
Delayed puberty	Mõnikord (5–29%)
Delayed start of first period	Mõnikord (5–29%)
Premature breast development	Harva (1–4%)

Abnormality of the genitourinary system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the reproductive system	Väga sageli (80–99%)
Undescended testes	Väga sageli (80–99%)
Abnormal absence of menstruation	Sageli (30–79%)
Decreased fertility	Sageli (30–79%)
Abnormal libido	Mõnikord (5–29%)
Abnormal localisation of kidneys	Mõnikord (5–29%)
Dilatation of the renal pelvis	Mõnikord (5–29%)
Hydronephrosis	Mõnikord (5–29%)
Hypospadias	Mõnikord (5–29%)
Light or infrequent menstrual periods	Mõnikord (5–29%)
Previous menstrual periods stop	Mõnikord (5–29%)
Cancer starting in small tubes in kidneys	Pole registreeritud
Male infertility	Pole registreeritud
Transitional cell carcinoma of the bladder	Pole registreeritud
Uterine leiomyosarcoma	Pole registreeritud

Abnormality of blood and blood-forming tissues

Tunnus	Kui sageli seda täheldatakse
Abnormal platelet function	Sageli (30–79%)
Abnormality of coagulation	Sageli (30–79%)
Bleeding tendency	Sageli (30–79%)
Bruising susceptibility	Sageli (30–79%)
Decreased blood lymphocyte number	Sageli (30–79%)
Decreased total eosinophil count	Sageli (30–79%)
Elevated white blood count	Sageli (30–79%)
Blood spots	Mõnikord (5–29%)
Ecchymosis	Mõnikord (5–29%)
Juvenile myelomonocytic leukemia	Mõnikord (5–29%)
Myelodysplasia	Mõnikord (5–29%)
Amegakaryocytic thrombocytopenia	Pole registreeritud
Reduced factor XII activity	Pole registreeritud
Reduced factor XIII activity	Pole registreeritud

Abnormality of limbs

Tunnus	Kui sageli seda täheldatakse
Curvature of little finger	Alati
Outward turned elbows	Alati
Thickening of palms and soles	Väga sageli (80–99%)
Abnormal morphology of ulna	Sageli (30–79%)
Deep palm line	Sageli (30–79%)
Winged shoulder blade	Sageli (30–79%)
Fused forearm bones	Mõnikord (5–29%)
Knock knees	Mõnikord (5–29%)
Short fingers or toes	Mõnikord (5–29%)
Fluid accumulation in lower limbs	Harva (1–4%)
Curvature of digit	Pole registreeritud
Finger joint hyperextensibility	Pole registreeritud
Multiple plantar creases	Pole registreeritud
Radial deviation of finger	Pole registreeritud

Growth abnormality

Tunnus	Kui sageli seda täheldatakse
Growth delay	Alati
Short stature	Alati
Faltering weight	Väga sageli (80–99%)
Faltering weight in infancy	Väga sageli (80–99%)
Prenatal growth deficiency	Väga sageli (80–99%)
Abdominal obesity	Sageli (30–79%)
Birth weight > 90th percentile	Sageli (30–79%)
Increased body weight	Sageli (30–79%)
Obesity	Sageli (30–79%)
Truncal obesity	Sageli (30–79%)
Growth delay as children	Mõnikord (5–29%)
Proportionate short stature	Mõnikord (5–29%)

Abnormality of the ear

Tunnus	Kui sageli seda täheldatakse
Ears rotated toward back of head	Alati
Low-set ears	Alati
Sensorineural hearing impairment	Alati
Thickened helices	Alati
Severe sensorineural hearing impairment	Väga sageli (80–99%)
Large earlobe	Sageli (30–79%)
Large ears	Sageli (30–79%)
Aplasia of the semicircular canal	Mõnikord (5–29%)
Hearing impairment	Mõnikord (5–29%)
Dizziness	Harva (1–4%)
Earlobe crease	Pole registreeritud

Laboratory abnormality

Tunnus	Kui sageli seda täheldatakse
High urine cortisol level	Väga sageli (80–99%)
Diabetes mellitus	Sageli (30–79%)
Impaired glucose tolerance	Sageli (30–79%)
Chylothorax	Mõnikord (5–29%)
Noninsulin-dependent diabetes	Mõnikord (5–29%)
Swelling caused by excess lymph fluid under skin	Mõnikord (5–29%)

Abnormality of the immune system

Tunnus	Kui sageli seda täheldatakse
Acne	Sageli (30–79%)
Decreased immune function	Sageli (30–79%)
Recurrent cutaneous fungal infections	Mõnikord (5–29%)
Recurrent infections	Harva (1–4%)
Baby eczema	Pole registreeritud

Abnormality of the respiratory system

Tunnus	Kui sageli seda täheldatakse
Abnormality of the respiratory system	Mõnikord (5–29%)
Alveolar cell carcinoma	Pole registreeritud
Lung adenocarcinoma	Pole registreeritud
Non-small cell lung carcinoma	Pole registreeritud

Abnormal tissue mass

Tunnus	Kui sageli seda täheldatakse
Cancer of skin pigment cells	Mõnikord (5–29%)
Malignant peripheral nerve sheath tumor	Pole registreeritud

Abnormality of prenatal development or birth

Tunnus	Kui sageli seda täheldatakse
Premature birth	Sageli (30–79%)
High levels of amniotic fluid	Pole registreeritud

Abnormality of the breast

Tunnus	Kui sageli seda täheldatakse
Wide-spaced nipples	Alati

Abnormality of the voice

Tunnus	Kui sageli seda täheldatakse
Abnormality of the voice	Mõnikord (5–29%)

Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.

Allikas

Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga BRAF seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.

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