GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Myopathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker group BEFREE Deficiency of acid alpha-glucosidase (GAA) results in widespread cellular deposition of lysosomal glycogen manifesting as myopathy and cardiomyopathy. 14567965 2004
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker group BEFREE Autosomal recessive deficiency of lysosomal acid maltase (GAA) or glycogen storage disease type II (GSDII) results in a spectrum of phenotypes including a rapidly fatal infantile disorder (Pompe's), juvenile, and a late-onset adult myopathy. 12443541 2002
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 AlteredExpression group BEFREE Although many lysosomal disorders are corrected by a small amount of the missing enzyme, it has been generally accepted that 20-30% of normal acid alpha-glucosidase (GAA) activity, provided by gene or enzyme replacement therapy, would be required to reverse the myopathy and cardiomyopathy in Pompe disease. 12409258 2002
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 Biomarker group BEFREE Pompe disease is a lethal cardioskeletal myopathy in infants and results from genetic deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). 11268285 2001
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 AlteredExpression group BEFREE Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. 3087571 1986
CUI: C0026848
Disease: Myopathy
Myopathy 		0.150 CausalMutation group CLINVAR