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Glycogen storage disease due to acid maltase deficiency, juvenile onset
1 associated gene
16 connected diseases
No signs/symptoms info
Disease Type of connection
Glycogen storage disease due to acid maltase deficiency, adult onset
Glycogen storage disease due to acid maltase deficiency, infantile onset
Chronic granulomatous disease
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Synonym(s):
- Alpha-1,4-glucosidase acid deficiency, juvenile onset
- GSD due to acid maltase deficiency, juvenile onset
- GSD type 2, juvenile onset
- Glycogen storage disease type 2, juvenile onset
- Glycogenosis due to acid maltase deficiency, juvenile onset
- Glycogenosis type 2, juvenile onset
- Pompe disease, juvenile onset
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
GAA P10253606800
No signs/symptoms info available.