GenTIGSA Gene Database on Rare Genetic Disorders
  Beta Version

Lists of Rare Genetic Disorders  

Glycogen Storage Disease, Type II(Pompe disease) 
An Autosomal recessive mode(s) within the Metabolic disorders/Lysosomal storage disorders category
Reported Pathogenic variants
Candidate Gene Information
S.No. Name/GeneID Description Cytogentic Band Gene Location on genomic DNA Gene Length Exons Details Gene Cross-References
1 GAA/2548 alpha glucosidase 17q25.3 Chr17, NC_000017.11
(80101581..80119881)
18301 nt 21 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

2 PIK3CA/5290 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha 3q26.32 Chr3, NC_000003.12
(179148126..179240093)
91968 nt 22 More... OMIM gene
gnomAD browser
EnsEMBL
GeneCards
ClinGen gene

Variant Information
Disorder Cross-References:      Orphanet          OMIM                    GTR          MedGen          MalaCards          EMBL-EBI OLS    Monarch Initiative          NORD     

Patient care services
Clinical Symptoms & Disabilities

Prevalence
Under development