Pompe disease

Synonym(s)
- Glycogen storage disease type 2,
- GSD2,
- Alpha-glucosidase deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- GAA / Acid Alpha-Glucosidase
  17q25.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Acid alpha-glucosidase
Parent entry
- 20.8 Other disorders of complex molecule degradation
Child entries
- Pompe disease, infantile onset
- Pompe disease, late onset