Traits

Traits linked to RAF1

Raf-1 proto-oncogene, serine/threonine kinase

The Human Phenotype Ontology links 158 traits to RAF1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the cardiovascular system

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

Abnormality of head or neck

Trait	Hur ofta den förekommer
Cystic hygroma	Mycket ofta (80–99 %)
Downward slanting of the opening between the eyelids	Mycket ofta (80–99 %)
Full lower lip	Mycket ofta (80–99 %)
High forehead	Mycket ofta (80–99 %)
High palate	Mycket ofta (80–99 %)
Little lower jaw	Mycket ofta (80–99 %)
Midface retrusion	Mycket ofta (80–99 %)
Thickened skin folds of neck	Mycket ofta (80–99 %)
Triangular face	Mycket ofta (80–99 %)
Webbed neck	Mycket ofta (80–99 %)
Abnormality of the face	Ofta (30–79 %)
Big calvaria	Ofta (30–79 %)
Big lower jaw	Ofta (30–79 %)
Depressed nasal bridge	Ofta (30–79 %)
Eye folds	Ofta (30–79 %)
Full lips	Ofta (30–79 %)
Long, narrow head	Ofta (30–79 %)
Low hairline at back of neck	Ofta (30–79 %)
Prominent forehead	Ofta (30–79 %)
Short neck	Ofta (30–79 %)
Wide nasal bridge	Ofta (30–79 %)
Broad head shape	Ibland (5–29 %)
Sparse eyebrow	Ibland (5–29 %)
Wide mouth	Ibland (5–29 %)
Abnormal facial shape	Inte registrerat

Abnormality of the integument

Trait	Hur ofta den förekommer
Abnormal skin pigmentation	Mycket ofta (80–99 %)
Beauty mark	Mycket ofta (80–99 %)
Freckling	Mycket ofta (80–99 %)
Giant pigmented mole	Mycket ofta (80–99 %)
Hyperelastic skin	Mycket ofta (80–99 %)
Liver spots	Mycket ofta (80–99 %)
Mole	Mycket ofta (80–99 %)
Abnormal fingerprints	Ofta (30–79 %)
Abnormal hair quantity	Ofta (30–79 %)
Coarse hair	Ofta (30–79 %)
Dry skin	Ofta (30–79 %)
Lack of sweating	Ofta (30–79 %)
Poor wound healing	Ofta (30–79 %)
Birthmark	Ibland (5–29 %)
Chicken skin	Ibland (5–29 %)
Curly hair	Ibland (5–29 %)
Cutaneous melanoma	Ibland (5–29 %)
Excessive hair growth	Ibland (5–29 %)
Excessive wrinkled skin	Ibland (5–29 %)
Fine hair	Ibland (5–29 %)
Firm lump under the skin	Ibland (5–29 %)
Itching	Ibland (5–29 %)
Patchy loss of skin color	Ibland (5–29 %)
Small nail	Sällan (1–4%)

Abnormality of the musculoskeletal system

Trait	Hur ofta den förekommer
Double-Jointed	Mycket ofta (80–99 %)
Funnel chest	Mycket ofta (80–99 %)
Muscle weakness	Mycket ofta (80–99 %)
Pigeon chest	Mycket ofta (80–99 %)
Wide rib cage	Mycket ofta (80–99 %)
Delayed bone maturation	Ofta (30–79 %)
High shoulder blade	Ofta (30–79 %)
Low muscle tone	Ofta (30–79 %)
Scoliosis	Ofta (30–79 %)
EMG abnormality	Ibland (5–29 %)
Loss of fat tissue in localized area	Ibland (5–29 %)
Muscle tissue disease	Ibland (5–29 %)
Osteopenia	Ibland (5–29 %)
Hypophosphatemic rickets	Sällan (1–4%)
Abnormality of the sternum	Inte registrerat

Abnormality of the nervous system

Trait	Hur ofta den förekommer
Abnormal speech pattern	Mycket ofta (80–99 %)
Difficulty articulating speech	Mycket ofta (80–99 %)
Intellectual disability	Ofta (30–79 %)
Neurodevelopmental delay	Ofta (30–79 %)
Behavioral abnormality	Ibland (5–29 %)
Cancer of early nerve cells	Ibland (5–29 %)
Epilepsy	Ibland (5–29 %)
Global developmental delay	Ibland (5–29 %)
Headache	Ibland (5–29 %)
Intellectual disability, mild	Ibland (5–29 %)
Pressure on spinal cord	Ibland (5–29 %)
Rise in pressure inside skull	Ibland (5–29 %)
Specific learning disability	Ibland (5–29 %)
Spina bifida occulta	Ibland (5–29 %)
Too much cerebrospinal fluid in the brain	Ibland (5–29 %)

Abnormality of blood and blood-forming tissues

Trait	Hur ofta den förekommer
Abnormal platelet function	Ofta (30–79 %)
Abnormality of coagulation	Ofta (30–79 %)
Bleeding tendency	Ofta (30–79 %)
Bruising susceptibility	Ibland (5–29 %)
Juvenile myelomonocytic leukemia	Ibland (5–29 %)
Myelodysplasia	Ibland (5–29 %)
Thromboembolic stroke	Ibland (5–29 %)

Abnormality of the ear

Trait	Hur ofta den förekommer
Ears rotated toward back of head	Mycket ofta (80–99 %)
Low-set ears	Mycket ofta (80–99 %)
Sensorineural hearing impairment	Mycket ofta (80–99 %)
Severe sensorineural hearing impairment	Mycket ofta (80–99 %)
Thickened helices	Mycket ofta (80–99 %)
Aplasia of the semicircular canal	Ibland (5–29 %)

Abnormality of the eye

Trait	Hur ofta den förekommer
Bulging eye	Mycket ofta (80–99 %)
Drooping upper eyelid	Mycket ofta (80–99 %)
Wide-set eyes	Mycket ofta (80–99 %)
Blue eyes	Ofta (30–79 %)
Cross-eyed	Ofta (30–79 %)
Involuntary, rapid, rhythmic eye movements	Ibland (5–29 %)

Abnormality of the genitourinary system

Trait	Hur ofta den förekommer
Abnormality of the reproductive system	Mycket ofta (80–99 %)
Decreased fertility	Ofta (30–79 %)
Undescended testes	Ofta (30–79 %)
Abnormal localisation of kidneys	Ibland (5–29 %)
Dilatation of the renal pelvis	Ibland (5–29 %)
Hypospadias	Ibland (5–29 %)

Abnormality of limbs

Trait	Hur ofta den förekommer
Outward turned elbows	Ofta (30–79 %)
Winged shoulder blade	Ofta (30–79 %)
Curvature of little finger	Ibland (5–29 %)
Fused forearm bones	Ibland (5–29 %)
Short fingers or toes	Ibland (5–29 %)

Growth abnormality

Trait	Hur ofta den förekommer
Growth delay	Mycket ofta (80–99 %)
Prenatal growth deficiency	Mycket ofta (80–99 %)
Short stature	Mycket ofta (80–99 %)
Birth weight > 90th percentile	Ibland (5–29 %)
Growth delay as children	Ibland (5–29 %)

Abnormality of the digestive system

Trait	Hur ofta den förekommer
Absent/small abdominal wall muscles	Mycket ofta (80–99 %)
Enlarged liver	Ofta (30–79 %)
Feeding difficulties in infancy	Ofta (30–79 %)

Abnormality of the endocrine system

Trait	Hur ofta den förekommer
Hypogonadotropic hypogonadism	Mycket ofta (80–99 %)
Delayed start of first period	Ibland (5–29 %)
Premature breast development	Sällan (1–4%)

Abnormality of the respiratory system

Trait	Hur ofta den förekommer
Exertional breathlessness	Ofta (30–79 %)
Orthopnea	Ofta (30–79 %)
Softening of voice box tissue	Ibland (5–29 %)

Laboratory abnormality

Trait	Hur ofta den förekommer
Fluid retention	Ofta (30–79 %)
Swelling caused by excess lymph fluid under skin	Ibland (5–29 %)

Abnormal tissue mass

Trait	Hur ofta den förekommer
Cancer of skin pigment cells	Ibland (5–29 %)

Abnormality of prenatal development or birth

Trait	Hur ofta den förekommer
High levels of amniotic fluid	Ofta (30–79 %)

Abnormality of the breast

Trait	Hur ofta den förekommer
Wide-spaced nipples	Mycket ofta (80–99 %)

Abnormality of the voice

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

Constitutional symptom

Trait	Hur ofta den förekommer
Fatigue	Ofta (30–79 %)

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

The Human Phenotype Ontology, release 2026-09-01: the traits linked to RAF1 and how often each is seen. Find out more at hpo.jax.org.

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