/Danon disease

Danon disease

Rare Disease

MONDO:0010281

Also Known As

ANTOPOL diseaseDanon diseaseDanon disease, X-linked dominantGSD due to LAMP-2 deficiencyLAMP2 lysosomal glycogen storage diseaseglycogen storage disease type IIbglycogenosis due to LAMP-2 deficiencylysosomal glycogen storage disease caused by mutation in LAMP2lysosomal glycogen storage disease with normal acid maltase activitypseudoglycogenosis IIAntopol diseaseGSD IIbGSD IIb, formerlyGSD2B (formerly)X-linked vacuolar cardiomyopathy and myopathyglycogen storage cardiomyopathyglycogen storage disease IIbglycogen storage disease due to LAMP-2 deficiencyglycogen storage disease limited to the heartglycogen storage disease type 2b (formerly)lysosomal glycogen storage disease without acid maltase deficiencylysosomal glycogen storage disease without acid maltase deficiency (formerly)lysosomal glycogen storage disease without acid maltase deficiency, formerlypseudoglycogenosis 2vacuolar cardiomyopathy and myopathy X-linkedvacuolar cardiomyopathy and myopathy, X-linked

Definition

A lysosomal glycogen storage disease characterized by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.