AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga EXT2 seotud tunnused
exostosin glycosyltransferase 2
Inimese fenotüübi ontoloogia seostab geeniga EXT2 136 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 limbs
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Low muscle tone | Alati |
| Multiple exostoses | Alati |
| Osteochondroma | Alati |
| Scoliosis | Alati |
| Formation of new noncancerous bone on top of existing bone | Väga sageli (80–99%) |
| Low solidness and mass of the bones | Väga sageli (80–99%) |
| Abnormal bone structure | Sageli (30–79%) |
| Abnormal shape of cartilage | Sageli (30–79%) |
| Functional motor deficit | Sageli (30–79%) |
| Limitation of joint mobility | Sageli (30–79%) |
| Arthritis | Mõnikord (5–29%) |
| Bursitis | Mõnikord (5–29%) |
| Chondrosarcoma | Mõnikord (5–29%) |
| Limited hip movement | Mõnikord (5–29%) |
| Short long bone | Mõnikord (5–29%) |
| Abnormal shape of pelvis bone | Harva (1–4%) |
| Bone fracture | Harva (1–4%) |
| Neuropathic spinal arthropathy | Harva (1–4%) |
| Rib exostoses | Harva (1–4%) |
| Scapular exostoses | Harva (1–4%) |
| Pelvic bone exostoses | Pole registreeritud |
| Protuberances at ends of long bones | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Epilepsy | Alati |
| Global developmental delay | Alati |
| IQ between 34 and 49 | Alati |
| Delayed speech and language development | Väga sageli (80–99%) |
| Autism | Sageli (30–79%) |
| Intellectual disability, mild | Sageli (30–79%) |
| Unsteady walk | Sageli (30–79%) |
| Wide based walk | Sageli (30–79%) |
| Intellectual disability | Mõnikord (5–29%) |
| Intellectual disability, severe | Mõnikord (5–29%) |
| Loss of ability to walk | Mõnikord (5–29%) |
| Pauses in breathing while sleeping | Mõnikord (5–29%) |
| Somatic sensory dysfunction | Mõnikord (5–29%) |
| Cervical myelopathy | Harva (1–4%) |
| Fluid-filled cyst in spinal cord | Harva (1–4%) |
| Peripheral nerve compression | Harva (1–4%) |
| Pressure on spinal cord | Harva (1–4%) |
| Tethered cord | Harva (1–4%) |
| Autism spectrum disorder | Pole registreeritud |
| Motor delay | Pole registreeritud |
| Poor speech | Pole registreeritud |
| Repetitive movements | Pole registreeritud |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Big calvaria | Alati |
| Broad head shape | Väga sageli (80–99%) |
| Broad nasal tip | Väga sageli (80–99%) |
| Decreased bone formation of skull | Väga sageli (80–99%) |
| Depressed nasal tip | Väga sageli (80–99%) |
| Eye folds | Väga sageli (80–99%) |
| Little lower jaw | Väga sageli (80–99%) |
| Prominent nasal bridge | Väga sageli (80–99%) |
| Underdeveloped tissue around nostril | Väga sageli (80–99%) |
| Bulbous nose | Sageli (30–79%) |
| Downturned corners of mouth | Sageli (30–79%) |
| Holes in parietal bones | Sageli (30–79%) |
| Long philtrum | Sageli (30–79%) |
| Short philtrum | Sageli (30–79%) |
| Abnormally small head | Mõnikord (5–29%) |
| Flat forehead | Mõnikord (5–29%) |
| High forehead | Mõnikord (5–29%) |
| Prominent forehead | Mõnikord (5–29%) |
| Coarse facial features | Pole registreeritud |
| Hypoplastic philtrum | Pole registreeritud |
| Skin tag in front of the ear | Pole registreeritud |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Acid reflux | Sageli (30–79%) |
| Constipation | Sageli (30–79%) |
| Intestinal malrotation | Sageli (30–79%) |
| Nausea | Sageli (30–79%) |
| Stomach hernia | Mõnikord (5–29%) |
| Stool holding | Mõnikord (5–29%) |
| Volvulus | Mõnikord (5–29%) |
| Intestinal obstruction | Harva (1–4%) |
| Poor swallowing | Harva (1–4%) |
| Feeding difficulties | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal cardiovascular system morphology | Sageli (30–79%) |
| Hole in heart wall separating two lower heart chambers | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| High blood pressure | Mõnikord (5–29%) |
| Patent ductus arteriosus | Harva (1–4%) |
| Pseudoaneurysm | Harva (1–4%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Undescended testes | Alati |
| Abnormality of the kidney | Sageli (30–79%) |
| Short penis | Sageli (30–79%) |
| Nephroblastoma | Mõnikord (5–29%) |
| Urinary retention | Harva (1–4%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Pain | Sageli (30–79%) |
| Muscle ache | Mõnikord (5–29%) |
| Tendon pain | Mõnikord (5–29%) |
| Chest pain | Harva (1–4%) |
Abnormality of the endocrine system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed puberty | Mõnikord (5–29%) |
| Early onset of puberty | Mõnikord (5–29%) |
| Underactive thyroid | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Cross-eyed | Sageli (30–79%) |
| Involuntary, rapid, rhythmic eye movements | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the skin | Sageli (30–79%) |
| Atypical nail growth | Pole registreeritud |
| Sparse hair | Pole registreeritud |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Bleeding in brain | Sageli (30–79%) |
| Low number of red blood cells or hemoglobin | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Collapsed lung | Harva (1–4%) |
| Hemothorax | Harva (1–4%) |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Short stature | Sageli (30–79%) |
| Uneven or disproportionate growth of one body part compared to another | Mõnikord (5–29%) |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High levels of amniotic fluid | Mõnikord (5–29%) |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of the outer ear | Sageli (30–79%) |
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| High urine protein levels | 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
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: geeniga EXT2 seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast