AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Tunnused
Geeniga PAN2 seotud tunnused
poly(A) specific ribonuclease subunit PAN2
Inimese fenotüübi ontoloogia seostab geeniga PAN2 98 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 |
|---|---|
| Asymmetry of the posterior head | Alati |
| Deformity of the skull | Alati |
| Depressed nasal bridge | Alati |
| Eye folds | Alati |
| Full cheeks | Alati |
| Little lower jaw | Alati |
| Long philtrum | Alati |
| Myopathic facies | Alati |
| Nasal tip, upturned | Alati |
| Smooth philtrum | Alati |
| Sparse eyebrow | Alati |
| Thick eyebrow | Alati |
| Triangular head shape | Alati |
| Upward slanting of the opening between the eyelids | Alati |
| Wide mouth | Alati |
| Abnormally small head | Sageli (30–79%) |
| Broad forehead | Sageli (30–79%) |
| Broad head shape | Sageli (30–79%) |
| Downward slanting of the opening between the eyelids | Sageli (30–79%) |
| High palate | Sageli (30–79%) |
| Low frontal hairline | Sageli (30–79%) |
| Monobrow | Sageli (30–79%) |
| Short neck | Sageli (30–79%) |
| Thin red part of the upper lip | Sageli (30–79%) |
| Wide nasal bridge | Sageli (30–79%) |
| Bifid uvula | Mõnikord (5–29%) |
| Cleft palate | Mõnikord (5–29%) |
| Flat back of skull | Mõnikord (5–29%) |
| Long nose | Mõnikord (5–29%) |
| Small face | Mõnikord (5–29%) |
Abnormality of the eye
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally close eyes | Alati |
| Close sighted | Alati |
| Drooping upper eyelid | Alati |
| Posterior embryotoxon | Alati |
| Severe farsightedness | Alati |
| Cross-eyed | Sageli (30–79%) |
| Esodeviation | Sageli (30–79%) |
| Wide-set eyes | Sageli (30–79%) |
| Deeply set eye | Mõnikord (5–29%) |
| Hyperopic astigmatism | Mõnikord (5–29%) |
| Iris degeneration | Mõnikord (5–29%) |
| Rieger anomaly | Mõnikord (5–29%) |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormality of balance | Alati |
| Delayed speech and language development | Alati |
| EEG abnormality | Alati |
| Febrile seizure (within the age range of 3 months to 6 years) | Alati |
| Frequent temper tantrums | Alati |
| Global developmental delay | Alati |
| Intellectual disability, mild | Alati |
| Myoclonic seizure | Alati |
| Slurred speech | Alati |
| IQ between 34 and 49 | Väga sageli (80–99%) |
| Epilepsy | Sageli (30–79%) |
| Intellectual disability, borderline | Mõnikord (5–29%) |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Absent anus | Alati |
| Acid reflux | Alati |
| Anal fistula | Alati |
| Feeding difficulties | Alati |
| Gallbladder inflammation | Alati |
| Gallstones | Alati |
| Inguinal hernia | Alati |
| Pancreatic inflammation | Alati |
| Umbilical hernia | Alati |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hole in heart wall separating two lower heart chambers | Alati |
| Patent ductus arteriosus | Alati |
| Patent foramen ovale | Alati |
| Tetralogy of Fallot | Sageli (30–79%) |
| An opening in the wall separating the top two chambers of the heart | Mõnikord (5–29%) |
| Bulge in wall of root of large artery that carries blood away from heart | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal kidney location | Alati |
| Duplicated collecting system | Alati |
| Frequent urinary tract infections | Alati |
| Kidney stone | Alati |
| Renal failure | Alati |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Delayed bone maturation | Alati |
| Funnel chest | Alati |
| Low muscle tone | Alati |
| Narrow chest | Alati |
| Scoliosis | Alati |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Broad thumb | Alati |
| Curvature of digit | Alati |
| Curvature of little finger | Alati |
| Overlapping toe | Alati |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Ears rotated toward back of head | Alati |
| Recurrent middle ear infection | Alati |
| Sensorineural hearing impairment | Alati |
| Low-set ears | Sageli (30–79%) |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Autoimmune thrombocytopenia | Alati |
| Hemolytic anemia | Alati |
| Petechiae | Alati |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Prenatal growth deficiency | Alati |
| Decreased body weight | Sageli (30–79%) |
| Short stature | Sageli (30–79%) |
Abnormal tissue mass
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal tissue mass | Alati |
Abnormality of prenatal development or birth
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Moderate to late preterm birth | Alati |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Brain abscess | Alati |
Abnormality of the integument
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Sparse hair | Mõnikord (5–29%) |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Apnea | Alati |
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 PAN2 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