glycogen storage disease II
Glycogen storage disease due to acid maltase deficiency (AMD) is an autosomal recessive trait leading to metabolic myopathy that affects cardiac and respiratory muscles in addition to skeletal muscle and other tissues. AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset. Early onset forms are more severe and often fatal.
MONDO:0002412
disorder of glycogen metabolism
is_a
MONDO:0016340
familial restrictive cardiomyopathy
is_a
MONDO:0017738
lysosomal glycogen storage disease
is_a
Aglucosidase alfa
related
Alpha-1,4-glucosidase acid deficiency
exact
GAA glycogen storage disease
exact
GSD II
related
GSD due to acid maltase deficiency
exact
GSD type 2
exact
GSD type II
exact
GSD2
related
Pompe Disease
exact
Pompe disease
exact
acid maltase deficiency
exact
acid maltase deficiency disease
related
deficiency of alpha-glucosidase
related
deficiency of lysosomal alpha-glucosidase
related
generalised glycogenosis
exact
glucosidase acid-1,4-alpha deficiency
related
glycogen storage disease II
exact
glycogen storage disease caused by mutation in GAA
exact
glycogen storage disease type 2
exact
glycogen storage disease type II
exact
glycogenosis due to acid maltase deficiency
exact
glycogenosis type 2
exact
glycogenosis type II
exact
SPAC1039.11c SPAC30D11.01c SPBC4C3.08 SPAPB24D3.10c