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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.
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Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of the cardiovascular system
Abnormality of head or neck
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Cystic hygroma | Väga sageli (80–99%) |
| Downward slanting of the opening between the eyelids | Väga sageli (80–99%) |
| Full lower lip | Väga sageli (80–99%) |
| High forehead | Väga sageli (80–99%) |
| High palate | Väga sageli (80–99%) |
| Little lower jaw | Väga sageli (80–99%) |
| Midface retrusion | Väga sageli (80–99%) |
| Thickened skin folds of neck | Väga sageli (80–99%) |
| Triangular face | Väga sageli (80–99%) |
| Webbed neck | Väga sageli (80–99%) |
| Abnormality of the face | Sageli (30–79%) |
| Big calvaria | Sageli (30–79%) |
| Big lower jaw | Sageli (30–79%) |
| Depressed nasal bridge | Sageli (30–79%) |
| Eye folds | Sageli (30–79%) |
| Full lips | Sageli (30–79%) |
| Long, narrow head | Sageli (30–79%) |
| Low hairline at back of neck | Sageli (30–79%) |
| Prominent forehead | Sageli (30–79%) |
| Short neck | Sageli (30–79%) |
| Wide nasal bridge | Sageli (30–79%) |
| Broad head shape | Mõnikord (5–29%) |
| Sparse eyebrow | Mõnikord (5–29%) |
| Wide mouth | Mõnikord (5–29%) |
| Abnormal facial shape | Pole registreeritud |
Abnormality of the integument
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal skin pigmentation | Väga sageli (80–99%) |
| Beauty mark | Väga sageli (80–99%) |
| Freckling | Väga sageli (80–99%) |
| Giant pigmented mole | Väga sageli (80–99%) |
| Hyperelastic skin | Väga sageli (80–99%) |
| Liver spots | Väga sageli (80–99%) |
| Mole | Väga sageli (80–99%) |
| Abnormal fingerprints | Sageli (30–79%) |
| Abnormal hair quantity | Sageli (30–79%) |
| Coarse hair | Sageli (30–79%) |
| Dry skin | Sageli (30–79%) |
| Lack of sweating | Sageli (30–79%) |
| Poor wound healing | Sageli (30–79%) |
| Birthmark | Mõnikord (5–29%) |
| Chicken skin | Mõnikord (5–29%) |
| Curly hair | Mõnikord (5–29%) |
| Cutaneous melanoma | Mõnikord (5–29%) |
| Excessive hair growth | Mõnikord (5–29%) |
| Excessive wrinkled skin | Mõnikord (5–29%) |
| Fine hair | Mõnikord (5–29%) |
| Firm lump under the skin | Mõnikord (5–29%) |
| Itching | Mõnikord (5–29%) |
| Patchy loss of skin color | Mõnikord (5–29%) |
| Small nail | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Double-Jointed | Väga sageli (80–99%) |
| Funnel chest | Väga sageli (80–99%) |
| Muscle weakness | Väga sageli (80–99%) |
| Pigeon chest | Väga sageli (80–99%) |
| Wide rib cage | Väga sageli (80–99%) |
| Delayed bone maturation | Sageli (30–79%) |
| High shoulder blade | Sageli (30–79%) |
| Low muscle tone | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| EMG abnormality | Mõnikord (5–29%) |
| Loss of fat tissue in localized area | Mõnikord (5–29%) |
| Muscle tissue disease | Mõnikord (5–29%) |
| Osteopenia | Mõnikord (5–29%) |
| Hypophosphatemic rickets | Harva (1–4%) |
| Abnormality of the sternum | Pole registreeritud |
Abnormality of the nervous system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal speech pattern | Väga sageli (80–99%) |
| Difficulty articulating speech | Väga sageli (80–99%) |
| Intellectual disability | Sageli (30–79%) |
| Neurodevelopmental delay | Sageli (30–79%) |
| Behavioral abnormality | Mõnikord (5–29%) |
| Cancer of early nerve cells | Mõnikord (5–29%) |
| Epilepsy | Mõnikord (5–29%) |
| Global developmental delay | Mõnikord (5–29%) |
| Headache | Mõnikord (5–29%) |
| Intellectual disability, mild | Mõnikord (5–29%) |
| Pressure on spinal cord | Mõnikord (5–29%) |
| Rise in pressure inside skull | Mõnikord (5–29%) |
| Specific learning disability | Mõnikord (5–29%) |
| Spina bifida occulta | Mõnikord (5–29%) |
| Too much cerebrospinal fluid in the brain | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormal platelet function | Sageli (30–79%) |
| Abnormality of coagulation | Sageli (30–79%) |
| Bleeding tendency | Sageli (30–79%) |
| Bruising susceptibility | Mõnikord (5–29%) |
| Juvenile myelomonocytic leukemia | Mõnikord (5–29%) |
| Myelodysplasia | Mõnikord (5–29%) |
| Thromboembolic stroke | Mõnikord (5–29%) |
Abnormality of the ear
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Väga sageli (80–99%) |
| Low-set ears | Väga sageli (80–99%) |
| Sensorineural hearing impairment | Väga sageli (80–99%) |
| Severe sensorineural hearing impairment | Väga sageli (80–99%) |
| Thickened helices | Väga sageli (80–99%) |
| Aplasia of the semicircular canal | Mõnikord (5–29%) |
Abnormality of the eye
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Bulging eye | Väga sageli (80–99%) |
| Drooping upper eyelid | Väga sageli (80–99%) |
| Wide-set eyes | Väga sageli (80–99%) |
| Blue eyes | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the reproductive system | Väga sageli (80–99%) |
| Decreased fertility | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Abnormal localisation of kidneys | Mõnikord (5–29%) |
| Dilatation of the renal pelvis | Mõnikord (5–29%) |
| Hypospadias | Mõnikord (5–29%) |
Abnormality of limbs
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Outward turned elbows | Sageli (30–79%) |
| Winged shoulder blade | Sageli (30–79%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Fused forearm bones | Mõnikord (5–29%) |
| Short fingers or toes | Mõnikord (5–29%) |
Growth abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Growth delay | Väga sageli (80–99%) |
| Prenatal growth deficiency | Väga sageli (80–99%) |
| Short stature | Väga sageli (80–99%) |
| Birth weight > 90th percentile | Mõnikord (5–29%) |
| Growth delay as children | Mõnikord (5–29%) |
Abnormality of the digestive system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Absent/small abdominal wall muscles | Väga sageli (80–99%) |
| Enlarged liver | Sageli (30–79%) |
| Feeding difficulties in infancy | Sageli (30–79%) |
Abnormality of the endocrine system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Hypogonadotropic hypogonadism | Väga sageli (80–99%) |
| Delayed start of first period | Mõnikord (5–29%) |
| Premature breast development | Harva (1–4%) |
Abnormality of the respiratory system
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Exertional breathlessness | Sageli (30–79%) |
| Orthopnea | Sageli (30–79%) |
| Softening of voice box tissue | Mõnikord (5–29%) |
Laboratory abnormality
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Fluid retention | Sageli (30–79%) |
| Swelling caused by excess lymph fluid under skin | Mõnikord (5–29%) |
Abnormal tissue mass
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Cancer of skin pigment cells | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Trait | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Sageli (30–79%) |
Abnormality of the breast
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Väga sageli (80–99%) |
Abnormality of the voice
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the voice | Mõnikord (5–29%) |
Constitutional symptom
| Trait | Kui sageli seda täheldatakse |
|---|---|
| Fatigue | Sageli (30–79%) |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Allikas
- 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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