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

Abnormality of head or neck

Trait	Hvor ofte den forekommer
Cystic hygroma	Svært ofte (80–99 %)
Downward slanting of the opening between the eyelids	Svært ofte (80–99 %)
Full lower lip	Svært ofte (80–99 %)
High forehead	Svært ofte (80–99 %)
High palate	Svært ofte (80–99 %)
Little lower jaw	Svært ofte (80–99 %)
Midface retrusion	Svært ofte (80–99 %)
Thickened skin folds of neck	Svært ofte (80–99 %)
Triangular face	Svært ofte (80–99 %)
Webbed neck	Svært ofte (80–99 %)
Abnormality of the face	Ofte (30–79 %)
Big calvaria	Ofte (30–79 %)
Big lower jaw	Ofte (30–79 %)
Depressed nasal bridge	Ofte (30–79 %)
Eye folds	Ofte (30–79 %)
Full lips	Ofte (30–79 %)
Long, narrow head	Ofte (30–79 %)
Low hairline at back of neck	Ofte (30–79 %)
Prominent forehead	Ofte (30–79 %)
Short neck	Ofte (30–79 %)
Wide nasal bridge	Ofte (30–79 %)
Broad head shape	Noen ganger (5–29 %)
Sparse eyebrow	Noen ganger (5–29 %)
Wide mouth	Noen ganger (5–29 %)
Abnormal facial shape	Ikke registrert

Abnormality of the integument

Trait	Hvor ofte den forekommer
Abnormal skin pigmentation	Svært ofte (80–99 %)
Beauty mark	Svært ofte (80–99 %)
Freckling	Svært ofte (80–99 %)
Giant pigmented mole	Svært ofte (80–99 %)
Hyperelastic skin	Svært ofte (80–99 %)
Liver spots	Svært ofte (80–99 %)
Mole	Svært ofte (80–99 %)
Abnormal fingerprints	Ofte (30–79 %)
Abnormal hair quantity	Ofte (30–79 %)
Coarse hair	Ofte (30–79 %)
Dry skin	Ofte (30–79 %)
Lack of sweating	Ofte (30–79 %)
Poor wound healing	Ofte (30–79 %)
Birthmark	Noen ganger (5–29 %)
Chicken skin	Noen ganger (5–29 %)
Curly hair	Noen ganger (5–29 %)
Cutaneous melanoma	Noen ganger (5–29 %)
Excessive hair growth	Noen ganger (5–29 %)
Excessive wrinkled skin	Noen ganger (5–29 %)
Fine hair	Noen ganger (5–29 %)
Firm lump under the skin	Noen ganger (5–29 %)
Itching	Noen ganger (5–29 %)
Patchy loss of skin color	Noen ganger (5–29 %)
Small nail	Sjelden (1–4%)

Abnormality of the musculoskeletal system

Trait	Hvor ofte den forekommer
Double-Jointed	Svært ofte (80–99 %)
Funnel chest	Svært ofte (80–99 %)
Muscle weakness	Svært ofte (80–99 %)
Pigeon chest	Svært ofte (80–99 %)
Wide rib cage	Svært ofte (80–99 %)
Delayed bone maturation	Ofte (30–79 %)
High shoulder blade	Ofte (30–79 %)
Low muscle tone	Ofte (30–79 %)
Scoliosis	Ofte (30–79 %)
EMG abnormality	Noen ganger (5–29 %)
Loss of fat tissue in localized area	Noen ganger (5–29 %)
Muscle tissue disease	Noen ganger (5–29 %)
Osteopenia	Noen ganger (5–29 %)
Hypophosphatemic rickets	Sjelden (1–4%)
Abnormality of the sternum	Ikke registrert

Abnormality of the nervous system

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

Abnormality of blood and blood-forming tissues

Trait	Hvor ofte den forekommer
Abnormal platelet function	Ofte (30–79 %)
Abnormality of coagulation	Ofte (30–79 %)
Bleeding tendency	Ofte (30–79 %)
Bruising susceptibility	Noen ganger (5–29 %)
Juvenile myelomonocytic leukemia	Noen ganger (5–29 %)
Myelodysplasia	Noen ganger (5–29 %)
Thromboembolic stroke	Noen ganger (5–29 %)

Abnormality of the ear

Trait	Hvor ofte den forekommer
Ears rotated toward back of head	Svært ofte (80–99 %)
Low-set ears	Svært ofte (80–99 %)
Sensorineural hearing impairment	Svært ofte (80–99 %)
Severe sensorineural hearing impairment	Svært ofte (80–99 %)
Thickened helices	Svært ofte (80–99 %)
Aplasia of the semicircular canal	Noen ganger (5–29 %)

Abnormality of the eye

Trait	Hvor ofte den forekommer
Bulging eye	Svært ofte (80–99 %)
Drooping upper eyelid	Svært ofte (80–99 %)
Wide-set eyes	Svært ofte (80–99 %)
Blue eyes	Ofte (30–79 %)
Cross-eyed	Ofte (30–79 %)
Involuntary, rapid, rhythmic eye movements	Noen ganger (5–29 %)

Abnormality of the genitourinary system

Trait	Hvor ofte den forekommer
Abnormality of the reproductive system	Svært ofte (80–99 %)
Decreased fertility	Ofte (30–79 %)
Undescended testes	Ofte (30–79 %)
Abnormal localisation of kidneys	Noen ganger (5–29 %)
Dilatation of the renal pelvis	Noen ganger (5–29 %)
Hypospadias	Noen ganger (5–29 %)

Abnormality of limbs

Trait	Hvor ofte den forekommer
Outward turned elbows	Ofte (30–79 %)
Winged shoulder blade	Ofte (30–79 %)
Curvature of little finger	Noen ganger (5–29 %)
Fused forearm bones	Noen ganger (5–29 %)
Short fingers or toes	Noen ganger (5–29 %)

Growth abnormality

Trait	Hvor ofte den forekommer
Growth delay	Svært ofte (80–99 %)
Prenatal growth deficiency	Svært ofte (80–99 %)
Short stature	Svært ofte (80–99 %)
Birth weight > 90th percentile	Noen ganger (5–29 %)
Growth delay as children	Noen ganger (5–29 %)

Abnormality of the digestive system

Trait	Hvor ofte den forekommer
Absent/small abdominal wall muscles	Svært ofte (80–99 %)
Enlarged liver	Ofte (30–79 %)
Feeding difficulties in infancy	Ofte (30–79 %)

Abnormality of the endocrine system

Trait	Hvor ofte den forekommer
Hypogonadotropic hypogonadism	Svært ofte (80–99 %)
Delayed start of first period	Noen ganger (5–29 %)
Premature breast development	Sjelden (1–4%)

Abnormality of the respiratory system

Trait	Hvor ofte den forekommer
Exertional breathlessness	Ofte (30–79 %)
Orthopnea	Ofte (30–79 %)
Softening of voice box tissue	Noen ganger (5–29 %)

Laboratory abnormality

Trait	Hvor ofte den forekommer
Fluid retention	Ofte (30–79 %)
Swelling caused by excess lymph fluid under skin	Noen ganger (5–29 %)

Abnormal tissue mass

Trait	Hvor ofte den forekommer
Cancer of skin pigment cells	Noen ganger (5–29 %)

Abnormality of prenatal development or birth

Trait	Hvor ofte den forekommer
High levels of amniotic fluid	Ofte (30–79 %)

Abnormality of the breast

Trait	Hvor ofte den forekommer
Wide-spaced nipples	Svært ofte (80–99 %)

Abnormality of the voice

Trait	Hvor ofte den forekommer
Abnormality of the voice	Noen ganger (5–29 %)

Constitutional symptom

Trait	Hvor ofte den forekommer
Fatigue	Ofte (30–79 %)

Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.

Slik er informasjonen samlet

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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