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Traits
Traits linked to GAA
alpha glucosidase
The Human Phenotype Ontology links 67 traits to GAA, by body system: features seen in people with one of the gene's rare conditions.
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Laboratory abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Elevated blood creatine phosphokinase | Alltid |
| Elevated circulating alanine aminotransferase concentration | Alltid |
| Elevated circulating aspartate aminotransferase concentration | Alltid |
| Elevated circulating CK-MB concentration | Alltid |
| Elevated circulating NT-proBNP concentration | Alltid |
| Fluid around lungs | Alltid |
| Increased circulating lactate dehydrogenase concentration | Alltid |
| Increased muscle glycogen content | Alltid |
| Nonimmune hydrops fetalis | Alltid |
| Abnormal circulating enzyme concentration or activity | Svært ofte (80–99 %) |
| Oligosacchariduria | Svært ofte (80–99 %) |
| Elevated urine glucose tetrasaccharide level | Ikke registrert |
| Fever | Ikke registrert |
| Reduced muscle alpha-1,4-glucosidase activity | Ikke registrert |
Abnormality of the cardiovascular system
| Trait | Hvor ofte den forekommer |
|---|---|
| Right axis deviation | Alltid |
| Sinus tachycardia | Alltid |
| Enlarged and thickened heart muscle | Svært ofte (80–99 %) |
| Enlarged heart | Svært ofte (80–99 %) |
| Left ventricular hypertrophy | Svært ofte (80–99 %) |
| Left ventricular outflow tract obstruction | Svært ofte (80–99 %) |
| Heart murmur | Ofte (30–79 %) |
| Low-output congestive heart failure | Ofte (30–79 %) |
| Shortened PR interval | Ofte (30–79 %) |
| Brain aneurysm | Ikke registrert |
| Increased spleen size | Ikke registrert |
| Wolff-Parkinson-White syndrome | Ikke registrert |
Abnormality of the musculoskeletal system
| Trait | Hvor ofte den forekommer |
|---|---|
| Difficulty descending stairs | Alltid |
| Difficulty walking up stairs | Alltid |
| Generalized muscle weakness | Alltid |
| Muscle weakness | Alltid |
| Reduced maximal expiratory pressure | Alltid |
| Reduced maximal inspiratory pressure | Alltid |
| Decreased muscle tone in infant | Svært ofte (80–99 %) |
| Decreased lung function due to weak breathing muscles | Ofte (30–79 %) |
| Proximal neurogenic muscle weakness | Ofte (30–79 %) |
| Diaphragmatic paralysis | Ikke registrert |
| Firm muscles | Ikke registrert |
| Low muscle tone | Ikke registrert |
Abnormality of the nervous system
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormal gait | Alltid |
| Decreased reflex response | Alltid |
| Delayed ability to sit | Svært ofte (80–99 %) |
| Delayed ability to stand | Svært ofte (80–99 %) |
| Multifocal hyperintensity of cerebral white matter on MRI | Svært ofte (80–99 %) |
| Absent reflexes | Ofte (30–79 %) |
| Motor delay | Ofte (30–79 %) |
| Intellectual disability | Noen ganger (5–29 %) |
| Abnormal CNS myelination | Ikke registrert |
Abnormality of the respiratory system
| Trait | Hvor ofte den forekommer |
|---|---|
| Breathing difficulty | Alltid |
| Breathing difficulties | Svært ofte (80–99 %) |
| Respiratory failure | Ofte (30–79 %) |
| Respiratory failure requiring assisted ventilation | Ofte (30–79 %) |
| Respiratory function loss | Ofte (30–79 %) |
| Respiratory tract infection | Ofte (30–79 %) |
Abnormality of head or neck
| Trait | Hvor ofte den forekommer |
|---|---|
| Abnormally large tongue | Ofte (30–79 %) |
| Decreased facial muscle tone | Ofte (30–79 %) |
| Tongue muscle weakness | Ofte (30–79 %) |
Abnormality of limbs
| Trait | Hvor ofte den forekommer |
|---|---|
| Limb muscle weakness | Alltid |
| Lower limb muscle weakness | Alltid |
Abnormality of the digestive system
| Trait | Hvor ofte den forekommer |
|---|---|
| Enlarged liver | Svært ofte (80–99 %) |
| Feeding difficulties in infancy | Svært ofte (80–99 %) |
Constitutional symptom
| Trait | Hvor ofte den forekommer |
|---|---|
| Decreased ability to exercise | Alltid |
| Fatigue | Alltid |
Abnormality of blood and blood-forming tissues
| Trait | Hvor ofte den forekommer |
|---|---|
| Subarachnoid hemorrhage | Alltid |
Abnormality of the ear
| Trait | Hvor ofte den forekommer |
|---|---|
| Hearing impairment | Noen ganger (5–29 %) |
Abnormality of the genitourinary system
| Trait | Hvor ofte den forekommer |
|---|---|
| Loss of bladder control | Alltid |
Abnormality of the immune system
| Trait | Hvor ofte den forekommer |
|---|---|
| Recurrent respiratory infections | Ikke registrert |
Growth abnormality
| Trait | Hvor ofte den forekommer |
|---|---|
| Faltering weight | Svært ofte (80–99 %) |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
Slik er informasjonen samlet
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to GAA and how often each is seen. Find out more at hpo.jax.org.
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