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GENATLAS PHENOTYPE

last update : 08-03-2011

Symbol	GSD2
Location	17q25.2-q25.3
Name	glycogen storage disease, type II
Other name(s)	Pompe disease acid alpha-glucosidase deficiency
Corresponding gene	GAA
Other symbol(s)	GAA
Main clinical features	infantile-onset Pompe disease is characterized by hypertrophic cardiomyopathy and profound generalized weakness presenting in the first few months of life, with rapid progression and death usually occurring by one year of age late-onset Pompe disease is characterized by onset of symptoms after one year of age, less severe or absence of cardiac involvement and slower progression, with symptoms primarily related to progressive dysfunction of skeletal muscles and respiratory muscle involvement
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	glucosidase,alpha,acid (GAA)

Remark(s)

prototypic lysosomal storage disease