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	Hoe vaak het voorkomt
Cardiac failure	Altijd
Mitral regurgitation	Altijd
Reduced left ventricular ejection fraction	Altijd
Stretched and thinned heart muscle	Altijd
Abnormal cardiovascular system morphology	Heel vaak (80–99%)
Abnormal EKG	Heel vaak (80–99%)
Abnormal heart rate	Heel vaak (80–99%)
Abnormal pulmonary valve morphology	Heel vaak (80–99%)
Abnormal ST segment	Heel vaak (80–99%)
Abnormality of lung artery	Heel vaak (80–99%)
Bundle branch block	Heel vaak (80–99%)
Enlarged and thickened heart muscle	Heel vaak (80–99%)
Increased left ventricular end-diastolic volume	Heel vaak (80–99%)
Left ventricular systolic dysfunction	Heel vaak (80–99%)
Narrowing of lung artery	Heel vaak (80–99%)
Narrowing of pulmonic valve	Heel vaak (80–99%)
Abnormal mitral valve morphology	Vaak (30–79%)
Abnormality of the lymphatic system	Vaak (30–79%)
Abnormality of the spleen	Vaak (30–79%)
An opening in the wall separating the top two chambers of the heart	Vaak (30–79%)
Hole in center of heart	Vaak (30–79%)
Mitral valve prolapse	Vaak (30–79%)
Ventricular arrhythmia	Vaak (30–79%)
Abnormal endocardium morphology	Soms (5–29%)
Aneurysm	Soms (5–29%)
Heart attack	Soms (5–29%)
Narrowing of aorta	Soms (5–29%)
Patent ductus arteriosus	Zelden (1–4%)

Abnormality of head or neck

Trait	Hoe vaak het voorkomt
Cystic hygroma	Heel vaak (80–99%)
Downward slanting of the opening between the eyelids	Heel vaak (80–99%)
Full lower lip	Heel vaak (80–99%)
High forehead	Heel vaak (80–99%)
High palate	Heel vaak (80–99%)
Little lower jaw	Heel vaak (80–99%)
Midface retrusion	Heel vaak (80–99%)
Thickened skin folds of neck	Heel vaak (80–99%)
Triangular face	Heel vaak (80–99%)
Webbed neck	Heel vaak (80–99%)
Abnormality of the face	Vaak (30–79%)
Big calvaria	Vaak (30–79%)
Big lower jaw	Vaak (30–79%)
Depressed nasal bridge	Vaak (30–79%)
Eye folds	Vaak (30–79%)
Full lips	Vaak (30–79%)
Long, narrow head	Vaak (30–79%)
Low hairline at back of neck	Vaak (30–79%)
Prominent forehead	Vaak (30–79%)
Short neck	Vaak (30–79%)
Wide nasal bridge	Vaak (30–79%)
Broad head shape	Soms (5–29%)
Sparse eyebrow	Soms (5–29%)
Wide mouth	Soms (5–29%)
Abnormal facial shape	Niet vastgelegd

Abnormality of the integument

Trait	Hoe vaak het voorkomt
Abnormal skin pigmentation	Heel vaak (80–99%)
Beauty mark	Heel vaak (80–99%)
Freckling	Heel vaak (80–99%)
Giant pigmented mole	Heel vaak (80–99%)
Hyperelastic skin	Heel vaak (80–99%)
Liver spots	Heel vaak (80–99%)
Mole	Heel vaak (80–99%)
Abnormal fingerprints	Vaak (30–79%)
Abnormal hair quantity	Vaak (30–79%)
Coarse hair	Vaak (30–79%)
Dry skin	Vaak (30–79%)
Lack of sweating	Vaak (30–79%)
Poor wound healing	Vaak (30–79%)
Birthmark	Soms (5–29%)
Chicken skin	Soms (5–29%)
Curly hair	Soms (5–29%)
Cutaneous melanoma	Soms (5–29%)
Excessive hair growth	Soms (5–29%)
Excessive wrinkled skin	Soms (5–29%)
Fine hair	Soms (5–29%)
Firm lump under the skin	Soms (5–29%)
Itching	Soms (5–29%)
Patchy loss of skin color	Soms (5–29%)
Small nail	Zelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hoe vaak het voorkomt
Double-Jointed	Heel vaak (80–99%)
Funnel chest	Heel vaak (80–99%)
Muscle weakness	Heel vaak (80–99%)
Pigeon chest	Heel vaak (80–99%)
Wide rib cage	Heel vaak (80–99%)
Delayed bone maturation	Vaak (30–79%)
High shoulder blade	Vaak (30–79%)
Low muscle tone	Vaak (30–79%)
Scoliosis	Vaak (30–79%)
EMG abnormality	Soms (5–29%)
Loss of fat tissue in localized area	Soms (5–29%)
Muscle tissue disease	Soms (5–29%)
Osteopenia	Soms (5–29%)
Hypophosphatemic rickets	Zelden (1–4%)
Abnormality of the sternum	Niet vastgelegd

Abnormality of the nervous system

Trait	Hoe vaak het voorkomt
Abnormal speech pattern	Heel vaak (80–99%)
Difficulty articulating speech	Heel vaak (80–99%)
Intellectual disability	Vaak (30–79%)
Neurodevelopmental delay	Vaak (30–79%)
Behavioral abnormality	Soms (5–29%)
Cancer of early nerve cells	Soms (5–29%)
Epilepsy	Soms (5–29%)
Global developmental delay	Soms (5–29%)
Headache	Soms (5–29%)
Intellectual disability, mild	Soms (5–29%)
Pressure on spinal cord	Soms (5–29%)
Rise in pressure inside skull	Soms (5–29%)
Specific learning disability	Soms (5–29%)
Spina bifida occulta	Soms (5–29%)
Too much cerebrospinal fluid in the brain	Soms (5–29%)

Abnormality of blood and blood-forming tissues

Trait	Hoe vaak het voorkomt
Abnormal platelet function	Vaak (30–79%)
Abnormality of coagulation	Vaak (30–79%)
Bleeding tendency	Vaak (30–79%)
Bruising susceptibility	Soms (5–29%)
Juvenile myelomonocytic leukemia	Soms (5–29%)
Myelodysplasia	Soms (5–29%)
Thromboembolic stroke	Soms (5–29%)

Abnormality of the ear

Trait	Hoe vaak het voorkomt
Ears rotated toward back of head	Heel vaak (80–99%)
Low-set ears	Heel vaak (80–99%)
Sensorineural hearing impairment	Heel vaak (80–99%)
Severe sensorineural hearing impairment	Heel vaak (80–99%)
Thickened helices	Heel vaak (80–99%)
Aplasia of the semicircular canal	Soms (5–29%)

Abnormality of the eye

Trait	Hoe vaak het voorkomt
Bulging eye	Heel vaak (80–99%)
Drooping upper eyelid	Heel vaak (80–99%)
Wide-set eyes	Heel vaak (80–99%)
Blue eyes	Vaak (30–79%)
Cross-eyed	Vaak (30–79%)
Involuntary, rapid, rhythmic eye movements	Soms (5–29%)

Abnormality of the genitourinary system

Trait	Hoe vaak het voorkomt
Abnormality of the reproductive system	Heel vaak (80–99%)
Decreased fertility	Vaak (30–79%)
Undescended testes	Vaak (30–79%)
Abnormal localisation of kidneys	Soms (5–29%)
Dilatation of the renal pelvis	Soms (5–29%)
Hypospadias	Soms (5–29%)

Abnormality of limbs

Trait	Hoe vaak het voorkomt
Outward turned elbows	Vaak (30–79%)
Winged shoulder blade	Vaak (30–79%)
Curvature of little finger	Soms (5–29%)
Fused forearm bones	Soms (5–29%)
Short fingers or toes	Soms (5–29%)

Growth abnormality

Trait	Hoe vaak het voorkomt
Growth delay	Heel vaak (80–99%)
Prenatal growth deficiency	Heel vaak (80–99%)
Short stature	Heel vaak (80–99%)
Birth weight > 90th percentile	Soms (5–29%)
Growth delay as children	Soms (5–29%)

Abnormality of the digestive system

Trait	Hoe vaak het voorkomt
Absent/small abdominal wall muscles	Heel vaak (80–99%)
Enlarged liver	Vaak (30–79%)
Feeding difficulties in infancy	Vaak (30–79%)

Abnormality of the endocrine system

Trait	Hoe vaak het voorkomt
Hypogonadotropic hypogonadism	Heel vaak (80–99%)
Delayed start of first period	Soms (5–29%)
Premature breast development	Zelden (1–4%)

Abnormality of the respiratory system

Trait	Hoe vaak het voorkomt
Exertional breathlessness	Vaak (30–79%)
Orthopnea	Vaak (30–79%)
Softening of voice box tissue	Soms (5–29%)

Laboratory abnormality

Trait	Hoe vaak het voorkomt
Fluid retention	Vaak (30–79%)
Swelling caused by excess lymph fluid under skin	Soms (5–29%)

Abnormal tissue mass

Trait	Hoe vaak het voorkomt
Cancer of skin pigment cells	Soms (5–29%)

Abnormality of prenatal development or birth

Trait	Hoe vaak het voorkomt
High levels of amniotic fluid	Vaak (30–79%)

Abnormality of the breast

Trait	Hoe vaak het voorkomt
Wide-spaced nipples	Heel vaak (80–99%)

Abnormality of the voice

Trait	Hoe vaak het voorkomt
Abnormality of the voice	Soms (5–29%)

Constitutional symptom

Trait	Hoe vaak het voorkomt
Fatigue	Vaak (30–79%)

Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.

Waar dit vandaan komt

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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