MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandinborn carbohydrate metabolic disorder (MONDO:0019214)
Parent Node:
expandinborn disorder of energy metabolism (MONDO:0019243)
..Starting node
..expandglycogen storage disease ()

       Child Nodes:
........expandDanon disease ()
........expandglycogen storage disease due to aldolase A deficiency ()
........expandglycogen storage disease due to GLUT2 deficiency ()
........expandglycogen storage disease due to glycogen branching enzyme deficiency ()
........expandglycogen storage disease due to glycogen synthase deficiency ()
........expandglycogen storage disease due to lactate dehydrogenase deficiency ()
........expandglycogen storage disease due to muscle beta-enolase deficiency ()
........expandglycogen storage disease due to phosphoglycerate kinase 1 deficiency ()
........expandglycogen storage disease due to phosphoglycerate mutase deficiency ()
........expandglycogen storage disease due to phosphorylase kinase deficiency ()
........expandglycogen storage disease I ()
........expandglycogen storage disease II ()
........expandglycogen storage disease III ()
........expandglycogen storage disease V ()
........expandglycogen storage disease VI ()
........expandglycogen storage disease VII ()
........expandglycogen storage disease VIII ()
........expandglycogen storage disease XV ()
........expandlethal congenital glycogen storage disease of heart ()
........expandpolyglucosan body myopathy type 1 ()
........expandpolyglucosan body myopathy type 2 ()



 Sister Nodes: 
..expandenergy metabolism disorder with epilepsy ()
..expandglycogen storage disease ()
..expandinborn disorder of fatty acid oxidation and ketone body metabolism ()
..expandinborn mitochondrial metabolism disorder ()
..expandpyruvate metabolism disorder ()
..expandtricarboxylic acid cycle disorder ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:2412
Name:glycogen storage disease
Definition:An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues.
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Synonyms:glycogen metabolism disorder; glycogen storage disease; glycogen storage disorder; glycogenoses; glycogenosis; GSD; inborn error of glycogen metabolic process; inborn glycogen metabolic process disorder; inborn glycogen storage disorder; rare inborn error of glycogen metabolic process; rare inborn e
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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