Glycogen Storage Disease Type IIb

Go to external page http://id.nlm.nih.gov/mesh/D052120


An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.

Synonyms: Glycogen Storage Disease Type IIb, Pseudoglycogenosis 2, Pseudoglycogenosis IIs, X Linked Vacuolar Cardiomyopathy and Myopathy, Glycogen Storage Cardiomyopathies, Glycogen Storage Cardiomyopathy, Disease, Antopol, Glycogen Storage Disease Type 2B, Antopol Disease, Glycogen Storage Disease Limited to the Heart, X-Linked Vacuolar Cardiomyopathy and Myopathy, Danon Disease, Vacuolar Cardiomyopathy and Myopathy, X linked, Vacuolar Cardiomyopathy and Myopathy, X-linked, Cardiomyopathies, Glycogen Storage, Pseudoglycogenosis 2s, Pseudoglycogenosis II, Glycogen Storage Disease IIb, Lysosomal Glycogen Storage Disease with Normal Acid Maltase, Cardiomyopathy, Glycogen Storage, Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency