Glycogen storage disease due to acid maltase deficiency

General Information (adopted from Orphanet):

Glycogenosis due to acid maltase deficiency
pompe disease
Glycogen storage disease type 2
Glycogenosis type 2
GSD due to acid maltase deficiency
GSD type 2
Alpha-1,4-glucosidase acid deficiency
Number of Symptoms 0
OrphanetNr: 365
OMIM Id: 232300
ICD-10: E74.0
UMLs: C0017921
MeSH: D006009
MedDRA: 10053185
Snomed: 124454007

Prevalence, inheritance and age of onset:

Prevalence: 0.8
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Glycogen storage disease
 -Rare genetic disease
Glycogen storage disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Lysosomal disease with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Lysosomal disease with restrictive cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Lysosomal glycogen storage disease
 -Rare genetic disease
Muscular glycogenosis
 -Rare genetic disease
 -Rare neurologic disease


This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
GAA rs121907936 pathogenic RCV000004236.3
GAA rs121907937 pathogenic RCV000004237.3
GAA rs121907937 likely pathogenic RCV000169465.1
GAA rs121907938 likely pathogenic RCV000169045.1
GAA rs121907938 pathogenic RCV000004239.2
GAA rs121907939 pathogenic RCV000004243.2
GAA rs121907940 pathogenic RCV000156941.1
GAA rs121907940 pathogenic RCV000004240.2
GAA rs121907941 pathogenic RCV000004241.3
GAA rs121907942 pathogenic RCV000004247.3
GAA rs121907943 pathogenic RCV000004249.4
GAA rs121907944 pathogenic RCV000004250.3
GAA rs121907945 pathogenic RCV000004251.2
GAA rs147804176 likely pathogenic RCV000169615.1
GAA rs201185475 likely pathogenic RCV000169263.1
GAA rs201896815 likely pathogenic RCV000169139.1
GAA rs28937909 pathogenic RCV000004238.4
GAA rs28940868 pathogenic RCV000004244.3
GAA rs28940868 pathogenic RCV000055768.1
GAA rs368438393 likely pathogenic RCV000169030.1
GAA rs368438393 likely pathogenic RCV000169400.1
GAA rs369532274 pathogenic RCV000175263.1
GAA rs370950728 likely pathogenic RCV000169462.1
GAA rs374143224 likely pathogenic RCV000169600.1
GAA rs374470794 pathogenic RCV000174449.1
GAA rs386834235 pathogenic RCV000004248.5
GAA rs386834236 pathogenic RCV000004242.4
GAA rs386834236 pathogenic RCV000055770.2
GAA rs398123169 pathogenic RCV000173646.1
GAA rs398123170 pathogenic RCV000174660.1
GAA rs398123171 pathogenic RCV000174830.1
GAA rs398123172 likely pathogenic RCV000174831.1
GAA rs398123173 pathogenic RCV000175264.1
GAA rs398123174 pathogenic RCV000175529.1
GAA rs528367092 likely pathogenic RCV000169143.1
GAA rs536906561 likely pathogenic RCV000169262.1
GAA rs543300039 likely pathogenic RCV000169127.1
GAA rs549029029 likely pathogenic RCV000169115.1
GAA rs730880022 pathogenic RCV000156939.1
GAA rs730880372 pathogenic RCV000156940.1
GAA rs757111744 likely pathogenic RCV000169099.1
GAA rs757700700 likely pathogenic RCV000169620.1
GAA rs767882689 likely pathogenic RCV000169454.1
GAA rs770276275 likely pathogenic RCV000169228.1
GAA rs770610356 likely pathogenic RCV000169488.1
GAA rs772883420 likely pathogenic RCV000169391.1
GAA rs780321415 likely pathogenic RCV000169394.1
GAA rs781088002 likely pathogenic RCV000169308.1
GAA rs786204467 likely pathogenic RCV000169114.1
GAA rs786204507 likely pathogenic RCV000169190.1
GAA rs786204517 likely pathogenic RCV000169210.1
GAA rs786204532 likely pathogenic RCV000169234.1
GAA rs786204549 likely pathogenic RCV000169264.1
GAA rs786204561 likely pathogenic RCV000169291.1
GAA rs786204614 likely pathogenic RCV000169376.1
GAA rs786204621 likely pathogenic RCV000169390.1
GAA rs786204645 likely pathogenic RCV000169431.1
GAA rs786204646 likely pathogenic RCV000169433.1
GAA rs786204661 likely pathogenic RCV000169456.1
GAA rs786204720 likely pathogenic RCV000169538.1
GAA rs786204727 likely pathogenic RCV000169565.1
GAA rs796051877 pathogenic RCV000186551.1

Additional Information:

Description: (OMIM) Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal ...
Diagnosis OMIM Angelini et al. (1972) showed that the adult form of the disease can be diagnosed in cultured skin fibroblasts. Askanas et al. (1976) established muscle tissue cultures from a 34-year-old patient with the adult-onset myopathy. Morphologically and biochemically, ...
Clinical Description OMIM - Infantile Onset (Pompe Disease)

In classic cases of Pompe disease, affected children are prostrate and markedly hypotonic with large hearts. The tongue may be enlarged. Although the enzyme is deficient in all tissues, muscle weakness ...

Molecular genetics OMIM Multiple mutations in the acid maltase gene have been shown to cause glycogen storage disease II. Martiniuk et al. (1990) demonstrated a single basepair substitution of G to A at position 271 (606800.0001). Wokke et al. (1995) found ...
Population genetics OMIM In Israel, almost all cases of Pompe disease have occurred in Palestinian Arabs (Bashan et al., 1988).

On the basis of Hardy-Weinberg equilibrium and the fact that 7 mutations they tested represented only 29% of the ...

Diagnosis GeneReviews The two general subtypes of glycogen storage disease type II (GSD II), also known as Pompe disease, differ by age of onset and clinical findings....
Clinical Description GeneReviews Glycogen storage disease type II (GSD II; Pompe disease) has been classified based on age of onset, organ involvement, severity, and rate of progression. As a general rule, the earlier the onset of symptoms, the faster the rate of progression....
Genotype-Phenotype Correlations GeneReviews GAA enzyme activity may correlate with age of onset and rate of progression as a "rough" general rule:...
Differential Diagnosis GeneReviews Infantile-onset Pompe disease. Disorders to be considered in the differential diagnosis:...
Management GeneReviews To establish the extent of disease in an individual diagnosed with glycogen storage disease type II (GSD II; Pompe disease), the following guidelines for the initial evaluation of infantile Pompe disease put forth by an expert panel from the American College of Medical Genetics [Kishnani et al 2006b] are recommended (see Image guidelines.jpg):...
Molecular genetics GeneReviews Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED....