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Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga MRAS seotud tunnused
muscle RAS oncogene homolog
Inimese fenotüübi ontoloogia seostab geeniga MRAS 83 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bulbous nose | Alati |
| Depressed nasal bridge | Alati |
| Downward slanting of the opening between the eyelids | Alati |
| Full lips | Alati |
| Relatively large head | Alati |
| Cystic hygroma | 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%) |
| Long face | Sageli (30–79%) |
| Low hairline at back of neck | Sageli (30–79%) |
| Pointed chin | Sageli (30–79%) |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiovascular system morphology | Väga sageli (80–99%) |
| Abnormal EKG | Väga sageli (80–99%) |
| Narrowing of lung artery | Väga sageli (80–99%) |
| Abnormal heart rate | Sageli (30–79%) |
| Abnormal pulmonary valve morphology | Sageli (30–79%) |
| Abnormality of the lymphatic system | Sageli (30–79%) |
| Abnormality of the spleen | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Sageli (30–79%) |
| Enlarged and thickened heart muscle | Sageli (30–79%) |
| Narrowing of pulmonic valve | Sageli (30–79%) |
| Narrowing of aorta | Mõnikord (5–29%) |
| Patent ductus arteriosus | Harva (1–4%) |
Abnormality of the musculoskeletal system
| Tunnus | 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%) |
| Low muscle tone | Sageli (30–79%) |
| Scoliosis | Sageli (30–79%) |
| Osteopenia | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed ability to walk | Alati |
| Delayed speech and language development | Alati |
| Global developmental delay | Alati |
| Abnormal speech pattern | Väga sageli (80–99%) |
| Difficulty articulating speech | Väga sageli (80–99%) |
| Neurodevelopmental delay | Sageli (30–79%) |
| Intellectual disability | Mõnikord (5–29%) |
| Specific learning disability | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bilateral sensorineural hearing impairment | Alati |
| Ears rotated toward back of head | Alati |
| Low-set ears | Alati |
| Thickened helices | Väga sageli (80–99%) |
| Aplasia of the semicircular canal | Mõnikord (5–29%) |
| Sensorineural hearing impairment | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-set eyes | Alati |
| Bulging eye | Väga sageli (80–99%) |
| Drooping upper eyelid | Väga sageli (80–99%) |
| Blue eyes | Sageli (30–79%) |
| Cross-eyed | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Mõnikord (5–29%) |
Abnormality of blood and blood-forming tissues
| Tunnus | 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%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Excessive wrinkled skin of palms and soles | Sageli (30–79%) |
| Curvature of little finger | Mõnikord (5–29%) |
| Fused forearm bones | Mõnikord (5–29%) |
| Short fingers or toes | Mõnikord (5–29%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal fingerprints | Sageli (30–79%) |
| Abnormal hair quantity | Sageli (30–79%) |
| Coarse hair | Sageli (30–79%) |
| Beauty mark | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Feeding difficulties in infancy | Alati |
| Absent/small abdominal wall muscles | Väga sageli (80–99%) |
| Enlarged liver | Sageli (30–79%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the reproductive system | Sageli (30–79%) |
| Undescended testes | Sageli (30–79%) |
| Dilatation of the renal pelvis | Mõnikord (5–29%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hypogonadotropic hypogonadism | Väga sageli (80–99%) |
| Delayed start of first period | Mõnikord (5–29%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Väga sageli (80–99%) |
| Growth delay as children | Mõnikord (5–29%) |
Abnormality of the breast
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Wide-spaced nipples | Väga sageli (80–99%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Swelling caused by excess lymph fluid under skin | Mõnikord (5–29%) |
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
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga MRAS seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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