glycogen storage disease II

Summary
Synonym
  • Generalized glycogenosis
  • Glycogen storage disease 2
  • Glycogen storage disease, type II
  • Glycogenosis, type 2
  • Lysosomal alpha-1,4-glucosidase deficiency
  • Pompe's disease
  • acid maltase deficiency
  • deficiency of glucoamylase
  • deficiency of maltase
  • glycogen storage disease type II
Definition
A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.
Super Class
autosomal recessive disease glycogen storage disease
External Links
Disease Ontology
DOID:2752
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 31 - 39 of 39 in total
Gene ID Gene Symbol Description Source
54576 UGT1A8 UDP glucuronosyltransferase family 1 member A8
54577 UGT1A7 UDP glucuronosyltransferase family 1 member A7
54578 UGT1A6 UDP glucuronosyltransferase family 1 member A6
54579 UGT1A5 UDP glucuronosyltransferase family 1 member A5
54600 UGT1A9 UDP glucuronosyltransferase family 1 member A9
54657 UGT1A4 UDP glucuronosyltransferase family 1 member A4
54658 UGT1A1 UDP glucuronosyltransferase family 1 member A1
54659 UGT1A3 UDP glucuronosyltransferase family 1 member A3
57104 PNPLA2 patatin like phospholipase domain containing 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
14387 Gaa glucosidase, alpha, acid
Displaying 1 entry
Gene ID Gene Symbol Description Source
367562 Gaa alpha glucosidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 50 in total
HPO ID HPO Term
HP:0002747 Respiratory insufficiency due to muscle weakness
HP:0001324 Muscle weakness
HP:0008947 Infantile muscular hypotonia
HP:0000365 Hearing impairment
HP:0003701 Proximal muscle weakness
HP:0012379 Abnormal circulating enzyme concentration or activity
HP:0001712 Left ventricular hypertrophy
HP:0000183 Difficulty in tongue movements
HP:0002098 Respiratory distress
HP:0005165 Shortened PR interval
Displaying 1 entry
Gene ID Gene Symbol Description
2548 GAA alpha glucosidase

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Last updated: August 19, 2024