Engelsk definition
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.
Glycogen Storage Disease Type IIb
Glykogeninlagringssjukdom typ IIb
Svenska synonymer
Danons sjukdom — Antopols sjukdom — Glykogeninlagringskardiomyopati
Engelska synonymer
Vacuolar Cardiomyopathy and Myopathy, X-linked — Vacuolar Cardiomyopathy and Myopathy, X linked — Glycogen Storage Disease IIb — X-Linked Vacuolar Cardiomyopathy and Myopathy — X Linked Vacuolar Cardiomyopathy and Myopathy — Pseudoglycogenosis 2 — Pseudoglycogenosis 2s — Pseudoglycogenosis II — Pseudoglycogenosis IIs — Glycogen Storage Disease Type 2B — Antopol Disease — Disease, Antopol — Lysosomal Glycogen Storage Disease with Normal Acid Maltase — Glycogen Storage Disease Limited to the Heart — Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency — Danon Disease — Glycogen Storage Cardiomyopathy — Cardiomyopathies, Glycogen Storage — Cardiomyopathy, Glycogen Storage — Glycogen Storage Cardiomyopathies