Glycogen storage disease with hypertrophic cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs: GSD with hypertrophic cardiomyopathy
Glycogenosis with hypertrophic cardiomyopathy
Number of Symptoms 0
OrphanetNr: 217572
ICD-10: E74.0

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare familial disorder with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease


This term does not characterize a disease but a group of diseases.

Symptom Information: Sort by abundance 

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LAMP2 rs104894857 pathogenic RCV000010662.3
LAMP2 rs104894858 pathogenic RCV000010663.3
LAMP2 rs104894859 pathogenic RCV000010664.4
LAMP2 rs137852527 pathogenic RCV000010655.4
LAMP2 rs193922649 likely pathogenic RCV000037418.2
LAMP2 rs397516736 likely pathogenic RCV000037407.2
LAMP2 rs397516736 likely pathogenic RCV000037408.2
LAMP2 rs397516738 likely pathogenic RCV000037410.2
LAMP2 rs397516739 likely pathogenic RCV000037411.2
LAMP2 rs397516740 likely pathogenic RCV000037412.2
LAMP2 rs397516743 pathogenic RCV000037416.2
LAMP2 rs397516751 likely pathogenic RCV000037432.2
LAMP2 rs397516752 likely pathogenic RCV000037433.2
LAMP2 rs727503118 pathogenic RCV000150911.1
LAMP2 rs727503119 pathogenic RCV000150912.1
LAMP2 rs727503120 likely pathogenic RCV000150913.1
LAMP2 rs727504262 likely pathogenic RCV000154245.1
LAMP2 rs727504557 likely pathogenic RCV000155721.1
LAMP2 rs727504597 pathogenic RCV000155777.1
LAMP2 rs727504600 pathogenic RCV000155846.1
LAMP2 rs727504648 pathogenic RCV000155911.1
LAMP2 rs727504742 pathogenic RCV000156041.1
LAMP2 rs730880344 likely pathogenic RCV000154670.1

Additional Information: