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Tunnused
Geeniga GAA seotud tunnused
alpha glucosidase
Inimese fenotüübi ontoloogia seostab geeniga GAA 67 tunnust kehasüsteemide kaupa: omadusi, mida täheldatakse inimestel, kellel on selle geeni üks haruldastest seisunditest.
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Logi sisseKüsiSekveneeri oma genoom↗
AtlasKellele me abiks olemeMeie teadusTootedTulemused
Logi sisseKüsiSekveneeri oma genoom↗
Laboratory abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Elevated blood creatine phosphokinase | Alati |
| Elevated circulating alanine aminotransferase concentration | Alati |
| Elevated circulating aspartate aminotransferase concentration | Alati |
| Elevated circulating CK-MB concentration | Alati |
| Elevated circulating NT-proBNP concentration | Alati |
| Fluid around lungs | Alati |
| Increased circulating lactate dehydrogenase concentration | Alati |
| Increased muscle glycogen content | Alati |
| Nonimmune hydrops fetalis | Alati |
| Abnormal circulating enzyme concentration or activity | Väga sageli (80–99%) |
| Oligosacchariduria | Väga sageli (80–99%) |
| Elevated urine glucose tetrasaccharide level | Pole registreeritud |
| Fever | Pole registreeritud |
| Reduced muscle alpha-1,4-glucosidase activity | Pole registreeritud |
Abnormality of the cardiovascular system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Right axis deviation | Alati |
| Sinus tachycardia | Alati |
| Enlarged and thickened heart muscle | Väga sageli (80–99%) |
| Enlarged heart | Väga sageli (80–99%) |
| Left ventricular hypertrophy | Väga sageli (80–99%) |
| Left ventricular outflow tract obstruction | Väga sageli (80–99%) |
| Heart murmur | Sageli (30–79%) |
| Low-output congestive heart failure | Sageli (30–79%) |
| Shortened PR interval | Sageli (30–79%) |
| Brain aneurysm | Pole registreeritud |
| Increased spleen size | Pole registreeritud |
| Wolff-Parkinson-White syndrome | Pole registreeritud |
Abnormality of the musculoskeletal system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Difficulty descending stairs | Alati |
| Difficulty walking up stairs | Alati |
| Generalized muscle weakness | Alati |
| Muscle weakness | Alati |
| Reduced maximal expiratory pressure | Alati |
| Reduced maximal inspiratory pressure | Alati |
| Decreased muscle tone in infant | Väga sageli (80–99%) |
| Decreased lung function due to weak breathing muscles | Sageli (30–79%) |
| Proximal neurogenic muscle weakness | Sageli (30–79%) |
| Diaphragmatic paralysis | Pole registreeritud |
| Firm muscles | Pole registreeritud |
| Low muscle tone | Pole registreeritud |
Abnormality of the nervous system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormal gait | Alati |
| Decreased reflex response | Alati |
| Delayed ability to sit | Väga sageli (80–99%) |
| Delayed ability to stand | Väga sageli (80–99%) |
| Multifocal hyperintensity of cerebral white matter on MRI | Väga sageli (80–99%) |
| Absent reflexes | Sageli (30–79%) |
| Motor delay | Sageli (30–79%) |
| Intellectual disability | Mõnikord (5–29%) |
| Abnormal CNS myelination | Pole registreeritud |
Abnormality of the respiratory system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Breathing difficulty | Alati |
| Breathing difficulties | Väga sageli (80–99%) |
| Respiratory failure | Sageli (30–79%) |
| Respiratory failure requiring assisted ventilation | Sageli (30–79%) |
| Respiratory function loss | Sageli (30–79%) |
| Respiratory tract infection | Sageli (30–79%) |
Abnormality of head or neck
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Abnormally large tongue | Sageli (30–79%) |
| Decreased facial muscle tone | Sageli (30–79%) |
| Tongue muscle weakness | Sageli (30–79%) |
Abnormality of limbs
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Limb muscle weakness | Alati |
| Lower limb muscle weakness | Alati |
Abnormality of the digestive system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Enlarged liver | Väga sageli (80–99%) |
| Feeding difficulties in infancy | Väga sageli (80–99%) |
Constitutional symptom
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Decreased ability to exercise | Alati |
| Fatigue | Alati |
Abnormality of blood and blood-forming tissues
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Subarachnoid hemorrhage | Alati |
Abnormality of the ear
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Hearing impairment | Mõnikord (5–29%) |
Abnormality of the genitourinary system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Loss of bladder control | Alati |
Abnormality of the immune system
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Recurrent respiratory infections | Pole registreeritud |
Growth abnormality
| Tunnus | Kui sageli seda täheldatakse |
|---|---|
| Faltering weight | Väga sageli (80–99%) |
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 GAA seotud tunnused ja iga tunnuse esinemissagedus. Lisateavet leiate aadressilt hpo.jax.org.
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