Trăsături

Trăsături asociate cu RAF1

Raf-1 proto-oncogene, serine/threonine kinase

Human Phenotype Ontology asociază 158 trăsături cu RAF1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Cardiac failure	Întotdeauna
Mitral regurgitation	Întotdeauna
Reduced left ventricular ejection fraction	Întotdeauna
Stretched and thinned heart muscle	Întotdeauna
Abnormal cardiovascular system morphology	Foarte des (80–99%)
Abnormal EKG	Foarte des (80–99%)
Abnormal heart rate	Foarte des (80–99%)
Abnormal pulmonary valve morphology	Foarte des (80–99%)
Abnormal ST segment	Foarte des (80–99%)
Abnormality of lung artery	Foarte des (80–99%)
Bundle branch block	Foarte des (80–99%)
Enlarged and thickened heart muscle	Foarte des (80–99%)
Increased left ventricular end-diastolic volume	Foarte des (80–99%)
Left ventricular systolic dysfunction	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 lymphatic system	Des (30–79%)
Abnormality of the spleen	Des (30–79%)
An opening in the wall separating the top two chambers of the heart	Des (30–79%)
Hole in center of heart	Des (30–79%)
Mitral valve prolapse	Des (30–79%)
Ventricular arrhythmia	Des (30–79%)
Abnormal endocardium morphology	Uneori (5–29%)
Aneurysm	Uneori (5–29%)
Heart attack	Uneori (5–29%)
Narrowing of aorta	Uneori (5–29%)
Patent ductus arteriosus	Rar (1–4%)

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Cystic hygroma	Foarte des (80–99%)
Downward slanting of the opening between the eyelids	Foarte des (80–99%)
Full lower lip	Foarte des (80–99%)
High forehead	Foarte des (80–99%)
High palate	Foarte des (80–99%)
Little lower jaw	Foarte des (80–99%)
Midface retrusion	Foarte des (80–99%)
Thickened skin folds of neck	Foarte des (80–99%)
Triangular face	Foarte des (80–99%)
Webbed neck	Foarte des (80–99%)
Abnormality of the face	Des (30–79%)
Big calvaria	Des (30–79%)
Big lower jaw	Des (30–79%)
Depressed nasal bridge	Des (30–79%)
Eye folds	Des (30–79%)
Full lips	Des (30–79%)
Long, narrow head	Des (30–79%)
Low hairline at back of neck	Des (30–79%)
Prominent forehead	Des (30–79%)
Short neck	Des (30–79%)
Wide nasal bridge	Des (30–79%)
Broad head shape	Uneori (5–29%)
Sparse eyebrow	Uneori (5–29%)
Wide mouth	Uneori (5–29%)
Abnormal facial shape	Neînregistrat

Abnormality of the integument

Trăsătură	Cât de frecvent apare
Abnormal skin pigmentation	Foarte des (80–99%)
Beauty mark	Foarte des (80–99%)
Freckling	Foarte des (80–99%)
Giant pigmented mole	Foarte des (80–99%)
Hyperelastic skin	Foarte des (80–99%)
Liver spots	Foarte des (80–99%)
Mole	Foarte des (80–99%)
Abnormal fingerprints	Des (30–79%)
Abnormal hair quantity	Des (30–79%)
Coarse hair	Des (30–79%)
Dry skin	Des (30–79%)
Lack of sweating	Des (30–79%)
Poor wound healing	Des (30–79%)
Birthmark	Uneori (5–29%)
Chicken skin	Uneori (5–29%)
Curly hair	Uneori (5–29%)
Cutaneous melanoma	Uneori (5–29%)
Excessive hair growth	Uneori (5–29%)
Excessive wrinkled skin	Uneori (5–29%)
Fine hair	Uneori (5–29%)
Firm lump under the skin	Uneori (5–29%)
Itching	Uneori (5–29%)
Patchy loss of skin color	Uneori (5–29%)
Small nail	Rar (1–4%)

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Double-Jointed	Foarte des (80–99%)
Funnel chest	Foarte des (80–99%)
Muscle weakness	Foarte des (80–99%)
Pigeon chest	Foarte des (80–99%)
Wide rib cage	Foarte des (80–99%)
Delayed bone maturation	Des (30–79%)
High shoulder blade	Des (30–79%)
Low muscle tone	Des (30–79%)
Scoliosis	Des (30–79%)
EMG abnormality	Uneori (5–29%)
Loss of fat tissue in localized area	Uneori (5–29%)
Muscle tissue disease	Uneori (5–29%)
Osteopenia	Uneori (5–29%)
Hypophosphatemic rickets	Rar (1–4%)
Abnormality of the sternum	Neînregistrat

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Abnormal speech pattern	Foarte des (80–99%)
Difficulty articulating speech	Foarte des (80–99%)
Intellectual disability	Des (30–79%)
Neurodevelopmental delay	Des (30–79%)
Behavioral abnormality	Uneori (5–29%)
Cancer of early nerve cells	Uneori (5–29%)
Epilepsy	Uneori (5–29%)
Global developmental delay	Uneori (5–29%)
Headache	Uneori (5–29%)
Intellectual disability, mild	Uneori (5–29%)
Pressure on spinal cord	Uneori (5–29%)
Rise in pressure inside skull	Uneori (5–29%)
Specific learning disability	Uneori (5–29%)
Spina bifida occulta	Uneori (5–29%)
Too much cerebrospinal fluid in the brain	Uneori (5–29%)

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	Uneori (5–29%)
Juvenile myelomonocytic leukemia	Uneori (5–29%)
Myelodysplasia	Uneori (5–29%)
Thromboembolic stroke	Uneori (5–29%)

Abnormality of the ear

Trăsătură	Cât de frecvent apare
Ears rotated toward back of head	Foarte des (80–99%)
Low-set ears	Foarte des (80–99%)
Sensorineural hearing impairment	Foarte des (80–99%)
Severe sensorineural hearing impairment	Foarte des (80–99%)
Thickened helices	Foarte des (80–99%)
Aplasia of the semicircular canal	Uneori (5–29%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Bulging eye	Foarte des (80–99%)
Drooping upper eyelid	Foarte des (80–99%)
Wide-set eyes	Foarte des (80–99%)
Blue eyes	Des (30–79%)
Cross-eyed	Des (30–79%)
Involuntary, rapid, rhythmic eye movements	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Abnormality of the reproductive system	Foarte des (80–99%)
Decreased fertility	Des (30–79%)
Undescended testes	Des (30–79%)
Abnormal localisation of kidneys	Uneori (5–29%)
Dilatation of the renal pelvis	Uneori (5–29%)
Hypospadias	Uneori (5–29%)

Abnormality of limbs

Trăsătură	Cât de frecvent apare
Outward turned elbows	Des (30–79%)
Winged shoulder blade	Des (30–79%)
Curvature of little finger	Uneori (5–29%)
Fused forearm bones	Uneori (5–29%)
Short fingers or toes	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Growth delay	Foarte des (80–99%)
Prenatal growth deficiency	Foarte des (80–99%)
Short stature	Foarte des (80–99%)
Birth weight > 90th percentile	Uneori (5–29%)
Growth delay as children	Uneori (5–29%)

Abnormality of the digestive system

Trăsătură	Cât de frecvent apare
Absent/small abdominal wall muscles	Foarte des (80–99%)
Enlarged liver	Des (30–79%)
Feeding difficulties in infancy	Des (30–79%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Hypogonadotropic hypogonadism	Foarte des (80–99%)
Delayed start of first period	Uneori (5–29%)
Premature breast development	Rar (1–4%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Exertional breathlessness	Des (30–79%)
Orthopnea	Des (30–79%)
Softening of voice box tissue	Uneori (5–29%)

Laboratory abnormality

Trăsătură	Cât de frecvent apare
Fluid retention	Des (30–79%)
Swelling caused by excess lymph fluid under skin	Uneori (5–29%)

Abnormal tissue mass

Trăsătură	Cât de frecvent apare
Cancer of skin pigment cells	Uneori (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the breast

Trăsătură	Cât de frecvent apare
Wide-spaced nipples	Foarte des (80–99%)

Abnormality of the voice

Trăsătură	Cât de frecvent apare
Abnormality of the voice	Uneori (5–29%)

Constitutional symptom

Trăsătură	Cât de frecvent apare
Fatigue	Des (30–79%)

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 RAF1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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