present in Gene: GAA
present in Chromosome: 17
Position on Chromosome: 80104542
Alleles of this Variant: T/G
rs386834236 in
GAA gene and
Dysmorphic features
PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
PMID 19542901 2009 Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.
PMID 21631931 2011 Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
PMID 24107549 2013 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
PMID 23531252 2013 Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
PMID 3132435 1988 Glycogen storage disease type II in Israel.
PMID 17151339 2007 Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
PMID 25673129 2015 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
PMID 16702877 2006 Pompe disease diagnosis and management guideline.
PMID 16737883 2006 A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
PMID 12897283 2003 The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
PMID 8990003 1997 Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
PMID 15985590 2005 Disease severity in children and adults with Pompe disease related to age and disease duration.
rs386834236 in
GAA gene and
Glycogen Storage Disease
PMID 24008051 2014 The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
PMID 7881425 1994 Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
PMID 24150945 2014 Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
PMID 7717400 1995 Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
PMID 21439876 2011 Pompe disease: design, methodology, and early findings from the Pompe Registry.
PMID 16917947 2006 Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
PMID 26231297 2015 Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
PMID 17210890 2007 Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
PMID 26231297 2015 Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum.
PMID 27170567 2016 Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
PMID 24590251 2014 Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.
PMID 21439876 2011 Pompe disease: design, methodology, and early findings from the Pompe Registry.
PMID 22613277 2012 The impact of antibodies in late-onset Pompe disease: a case series and literature review.
PMID 14695532 2004 Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
PMID 24150945 2014 Functional characterization of the common c.-32-13T>G mutation of GAA gene: identification of potential therapeutic agents.
PMID 17210890 2007 Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype.
PMID 24245577 2013 Phenotypical variation within 22 families with Pompe disease.
PMID 22676651 2012 A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
PMID 27649523 2017 Late-onset pompe disease in Iran: A clinical and genetic report.
PMID 7881425 1994 Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation.
PMID 21109266 2011 Late form of Pompe disease with glycogen storage in peripheral nerves axons.
PMID 16917947 2006 Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
PMID 7717400 1995 Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.
rs386834236 in
GAA gene and
Multiple congenital anomalies
PMID 23430493 2013 Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
PMID 21631931 2011 Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy.
PMID 8558570 1995 Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients.
PMID 24107549 2013 Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.
PMID 21757382 2011 Rapid progressive course of later-onset Pompe disease in Chinese patients.
PMID 16702877 2006 Pompe disease diagnosis and management guideline.
PMID 18458862 2008 Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II.
PMID 19542901 2009 Early treatment with alglucosidase alpha prolongs long-term survival of infants with Pompe disease.
PMID 8990003 1997 Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
PMID 25673129 2015 Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
PMID 25526786 2014 Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
PMID 23531252 2013 Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
PMID 3132435 1988 Glycogen storage disease type II in Israel.
PMID 17151339 2007 Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.
PMID 16737883 2006 A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.
PMID 12897283 2003 The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
PMID 15985590 2005 Disease severity in children and adults with Pompe disease related to age and disease duration.