Požymiai

Su RAF1 susiję požymiai

Raf-1 proto-oncogene, serine/threonine kinase

Žmogaus fenotipo ontologija sieja 158 požymių su RAF1, pagal kūno sistemas: požymiai, pastebimi žmonėms, sergantiems viena iš šio geno retųjų ligų.

Abnormality of the cardiovascular system

Požymis	Kaip dažnai pasireiškia
Cardiac failure	Visada
Mitral regurgitation	Visada
Reduced left ventricular ejection fraction	Visada
Stretched and thinned heart muscle	Visada
Abnormal cardiovascular system morphology	Labai dažnai (80–99%)
Abnormal EKG	Labai dažnai (80–99%)
Abnormal heart rate	Labai dažnai (80–99%)
Abnormal pulmonary valve morphology	Labai dažnai (80–99%)
Abnormal ST segment	Labai dažnai (80–99%)
Abnormality of lung artery	Labai dažnai (80–99%)
Bundle branch block	Labai dažnai (80–99%)
Enlarged and thickened heart muscle	Labai dažnai (80–99%)
Increased left ventricular end-diastolic volume	Labai dažnai (80–99%)
Left ventricular systolic dysfunction	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 lymphatic system	Dažnai (30–79%)
Abnormality of the spleen	Dažnai (30–79%)
An opening in the wall separating the top two chambers of the heart	Dažnai (30–79%)
Hole in center of heart	Dažnai (30–79%)
Mitral valve prolapse	Dažnai (30–79%)
Ventricular arrhythmia	Dažnai (30–79%)
Abnormal endocardium morphology	Kartais (5–29%)
Aneurysm	Kartais (5–29%)
Heart attack	Kartais (5–29%)
Narrowing of aorta	Kartais (5–29%)
Patent ductus arteriosus	Retai (1–4 %)

Abnormality of head or neck

Požymis	Kaip dažnai pasireiškia
Cystic hygroma	Labai dažnai (80–99%)
Downward slanting of the opening between the eyelids	Labai dažnai (80–99%)
Full lower lip	Labai dažnai (80–99%)
High forehead	Labai dažnai (80–99%)
High palate	Labai dažnai (80–99%)
Little lower jaw	Labai dažnai (80–99%)
Midface retrusion	Labai dažnai (80–99%)
Thickened skin folds of neck	Labai dažnai (80–99%)
Triangular face	Labai dažnai (80–99%)
Webbed neck	Labai dažnai (80–99%)
Abnormality of the face	Dažnai (30–79%)
Big calvaria	Dažnai (30–79%)
Big lower jaw	Dažnai (30–79%)
Depressed nasal bridge	Dažnai (30–79%)
Eye folds	Dažnai (30–79%)
Full lips	Dažnai (30–79%)
Long, narrow head	Dažnai (30–79%)
Low hairline at back of neck	Dažnai (30–79%)
Prominent forehead	Dažnai (30–79%)
Short neck	Dažnai (30–79%)
Wide nasal bridge	Dažnai (30–79%)
Broad head shape	Kartais (5–29%)
Sparse eyebrow	Kartais (5–29%)
Wide mouth	Kartais (5–29%)
Abnormal facial shape	Neužfiksuota

Abnormality of the integument

Požymis	Kaip dažnai pasireiškia
Abnormal skin pigmentation	Labai dažnai (80–99%)
Beauty mark	Labai dažnai (80–99%)
Freckling	Labai dažnai (80–99%)
Giant pigmented mole	Labai dažnai (80–99%)
Hyperelastic skin	Labai dažnai (80–99%)
Liver spots	Labai dažnai (80–99%)
Mole	Labai dažnai (80–99%)
Abnormal fingerprints	Dažnai (30–79%)
Abnormal hair quantity	Dažnai (30–79%)
Coarse hair	Dažnai (30–79%)
Dry skin	Dažnai (30–79%)
Lack of sweating	Dažnai (30–79%)
Poor wound healing	Dažnai (30–79%)
Birthmark	Kartais (5–29%)
Chicken skin	Kartais (5–29%)
Curly hair	Kartais (5–29%)
Cutaneous melanoma	Kartais (5–29%)
Excessive hair growth	Kartais (5–29%)
Excessive wrinkled skin	Kartais (5–29%)
Fine hair	Kartais (5–29%)
Firm lump under the skin	Kartais (5–29%)
Itching	Kartais (5–29%)
Patchy loss of skin color	Kartais (5–29%)
Small nail	Retai (1–4 %)

Abnormality of the musculoskeletal system

Požymis	Kaip dažnai pasireiškia
Double-Jointed	Labai dažnai (80–99%)
Funnel chest	Labai dažnai (80–99%)
Muscle weakness	Labai dažnai (80–99%)
Pigeon chest	Labai dažnai (80–99%)
Wide rib cage	Labai dažnai (80–99%)
Delayed bone maturation	Dažnai (30–79%)
High shoulder blade	Dažnai (30–79%)
Low muscle tone	Dažnai (30–79%)
Scoliosis	Dažnai (30–79%)
EMG abnormality	Kartais (5–29%)
Loss of fat tissue in localized area	Kartais (5–29%)
Muscle tissue disease	Kartais (5–29%)
Osteopenia	Kartais (5–29%)
Hypophosphatemic rickets	Retai (1–4 %)
Abnormality of the sternum	Neužfiksuota

Abnormality of the nervous system

Požymis	Kaip dažnai pasireiškia
Abnormal speech pattern	Labai dažnai (80–99%)
Difficulty articulating speech	Labai dažnai (80–99%)
Intellectual disability	Dažnai (30–79%)
Neurodevelopmental delay	Dažnai (30–79%)
Behavioral abnormality	Kartais (5–29%)
Cancer of early nerve cells	Kartais (5–29%)
Epilepsy	Kartais (5–29%)
Global developmental delay	Kartais (5–29%)
Headache	Kartais (5–29%)
Intellectual disability, mild	Kartais (5–29%)
Pressure on spinal cord	Kartais (5–29%)
Rise in pressure inside skull	Kartais (5–29%)
Specific learning disability	Kartais (5–29%)
Spina bifida occulta	Kartais (5–29%)
Too much cerebrospinal fluid in the brain	Kartais (5–29%)

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

Abnormality of the ear

Požymis	Kaip dažnai pasireiškia
Ears rotated toward back of head	Labai dažnai (80–99%)
Low-set ears	Labai dažnai (80–99%)
Sensorineural hearing impairment	Labai dažnai (80–99%)
Severe sensorineural hearing impairment	Labai dažnai (80–99%)
Thickened helices	Labai dažnai (80–99%)
Aplasia of the semicircular canal	Kartais (5–29%)

Abnormality of the eye

Požymis	Kaip dažnai pasireiškia
Bulging eye	Labai dažnai (80–99%)
Drooping upper eyelid	Labai dažnai (80–99%)
Wide-set eyes	Labai dažnai (80–99%)
Blue eyes	Dažnai (30–79%)
Cross-eyed	Dažnai (30–79%)
Involuntary, rapid, rhythmic eye movements	Kartais (5–29%)

Abnormality of the genitourinary system

Požymis	Kaip dažnai pasireiškia
Abnormality of the reproductive system	Labai dažnai (80–99%)
Decreased fertility	Dažnai (30–79%)
Undescended testes	Dažnai (30–79%)
Abnormal localisation of kidneys	Kartais (5–29%)
Dilatation of the renal pelvis	Kartais (5–29%)
Hypospadias	Kartais (5–29%)

Abnormality of limbs

Požymis	Kaip dažnai pasireiškia
Outward turned elbows	Dažnai (30–79%)
Winged shoulder blade	Dažnai (30–79%)
Curvature of little finger	Kartais (5–29%)
Fused forearm bones	Kartais (5–29%)
Short fingers or toes	Kartais (5–29%)

Growth abnormality

Požymis	Kaip dažnai pasireiškia
Growth delay	Labai dažnai (80–99%)
Prenatal growth deficiency	Labai dažnai (80–99%)
Short stature	Labai dažnai (80–99%)
Birth weight > 90th percentile	Kartais (5–29%)
Growth delay as children	Kartais (5–29%)

Abnormality of the digestive system

Požymis	Kaip dažnai pasireiškia
Absent/small abdominal wall muscles	Labai dažnai (80–99%)
Enlarged liver	Dažnai (30–79%)
Feeding difficulties in infancy	Dažnai (30–79%)

Abnormality of the endocrine system

Požymis	Kaip dažnai pasireiškia
Hypogonadotropic hypogonadism	Labai dažnai (80–99%)
Delayed start of first period	Kartais (5–29%)
Premature breast development	Retai (1–4 %)

Abnormality of the respiratory system

Požymis	Kaip dažnai pasireiškia
Exertional breathlessness	Dažnai (30–79%)
Orthopnea	Dažnai (30–79%)
Softening of voice box tissue	Kartais (5–29%)

Laboratory abnormality

Požymis	Kaip dažnai pasireiškia
Fluid retention	Dažnai (30–79%)
Swelling caused by excess lymph fluid under skin	Kartais (5–29%)

Abnormal tissue mass

Požymis	Kaip dažnai pasireiškia
Cancer of skin pigment cells	Kartais (5–29%)

Abnormality of prenatal development or birth

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

Abnormality of the breast

Požymis	Kaip dažnai pasireiškia
Wide-spaced nipples	Labai dažnai (80–99%)

Abnormality of the voice

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

Constitutional symptom

Požymis	Kaip dažnai pasireiškia
Fatigue	Dažnai (30–79%)

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 RAF1 susiję požymiai ir kaip dažnai kiekvienas pasitaiko. Daugiau informacijos rasite adresu hpo.jax.org.

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