Effects of immunomodulation in classic infantile Pompe patients with high antibody titers
PMID: 31256280
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
29 Matching Annotations
- Oct 2026
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study
PMID: 30832705 Gene: GAA
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www.sciencedirect.com www.sciencedirect.com
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The nature of respiratory muscle weakness in patients with late-onset Pompe disease
PMID: 31327549
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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A novel homozygous mutation at the GAA gene in Mexicans with early-onset Pompe disease
PMID: 24399866
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand
PMID: 31510962
Gene:GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
PMID: 33977031
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Algorithm for the Early Diagnosis and Treatment of Patients with Cross Reactive Immunologic Material-Negative Classic Infantile Pompe Disease: A Step towards Improving the Efficacy of ERT
PMID: 23825616
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Genetic cause of heterogeneous inherited myopathies in a cohort of Greek patients
PMID: PMC7711282
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www-nature-com.libproxy.lib.unc.edu www-nature-com.libproxy.lib.unc.edu
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Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients
PMID: 31076647
Gene GAA
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87
Case#: 87, Gender N/A, 6 months old when diagnosed, Asian
DiseaseAssertion:Pompe disease
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText:N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant by PolyPhen-2
CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.
Dried Blood spot test found an GAA activity of 4.6 pmol/h/disk with a reference value of 6.5 pmol/h/disk
enzyme activity in fibroblast was recorded to be 5.4 nmol/h/mg protein.
Variants: Variant1: (Two mutated alleles with heterozygous mutations)
Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)
Variant2: NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
ClinVar: 546808
CAID: N/A
gnomAD: N/A
ParentalGenotype:N/A
PreviouslyPublished:N/A
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84
Case#: 84, Gender N/A, 6 months old when diagnosed, Asian
DiseaseAssertion: Pompe disease
FamilyInfo: Both parents were tested for variants in GAA
CasePresentingHPOs: N/A
CaseHPOFreeText:N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient did not present any symptoms, diagnosed was made based on the predicted impact of the variant by PolyPhen-2
CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.
Dried Blood spot test found an GAA activity of 3.8 pmol/h/disk with a reference value of 6.5 pmol/h/disk
enzyme activity in fibroblast was recorded to be 3.0 nmol/h/mg protein.
Variants: Variant1: (Two mutated alleles with heterozygous mutations)
Variant1.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant1.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest popu;ation MAF= 0.002235 (East Asians)
Variant2: C.1244C>T
ClinVar: N/A
CAID: N/A
gnomAD: N/A
ParentalGenotype: The c.752C>T+c.761C>T and c.1244C>T of subject ID 84 were derived from mother and father, respectively
PreviouslyPublished:N/A
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93
Case#: 93, gender N/A, 6months old when diagnosed, Asian
DiseaseAssertion: Pompe disease
FamilyInfo: Both parents were carriers of mutations in the GAA gene. The patient inherited the mutations.
CasePresentingHPOs: N/A
CaseHPOFreeText: Symptoms were noted at the age of 2.7 months old
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient showed no symptoms but LOPD was diagnosed based on the predicted impact of the variants by PolyPhen-2
CasePreviousTesting: The GAA gene was sequenced using NGS and resequenced for confirmation using Sanger.
Dried Blood spot test found an GAA activity of 0.25 pmol/h/disk with a reference value of 6.5 pmol/h/disk
Variant1: NM_000152.5(GAA):c.317G>A (p.Arg106His)
ClinVar: 286481
CAID: CA8814849
gnomAD: MAF=0.0001094 in East Asian
Variant2: (COMBINATION OF MUTATIONS IN THIS ALLELE, DOUBT HERE)
Variant2.1: NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
ClinVar: 346310
CAID: CA8815007
gnomAD: Highest population MAF = 0.002234 (East Asian)
Variant2.2: NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
ClinVar: 330447
CAID: CA8815009
gnomAD: Highest population MAF= 0.002235 (East Asians)
ParentalGenotype: Father is heterozygous for c.317G>A (p.Arg106His).
Mother carries both mutations of c.[752C>T,761C>T].
PreviouslyPublished:N/A
Tags
- HGNC:4065
- InheritancePattern:AutosomalRecessive
- ClinVarID:330447
- inferred_gene_hgnc:4065
- inferred_gene_source:hgnc_tag
- Gene:GAA
- CAID:CA8815009
- DiseaseEntity:PompeDisease
- CAID:CA8815007
- Zygosity:CompoundHeterozygous
- CAID:CA8814849
- PreviousTesting:GAAmeasurement
- Individual
- GAA variant
- General
- ClinVarID:546808
- ClinVarID:286481
- gene: GAA
- CaseInfo
- ClinVarID:346310
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
PMID: 30371346
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Outcome of Patients with Classical Infantile Pompe Disease Receiving Enzyme Replacement Therapy in Germany
PMID: 25626711
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Bright tongue sign in patients with late-onset Pompe disease
PMID: 31256280
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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link-springer-com.libproxy.lib.unc.edu link-springer-com.libproxy.lib.unc.edu
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A male child, diagnosed with IOPD at the age of 3 months
Case#: case 1, male, 3 months old at diagnosis, ethnicity unknown
DiseaseAssertion: Pompe disease
FamilyInfo: N/A
CasePresentingHPOs: HP:0001638, HP:0001252 (cardiomyopathy, muscular hypotonia)
CaseHPOFreeText: (Associated with Pompe Disease): Interventricular septum hypertrophy, increased serum CK, increased serum tryptase
CaseHPOFreeText: (Infussion associated reactions) Urticarial rash, unresponsive to antihistamines and corticosteroids
CaseNotHPOs:
CaseNotHPOFreeText: Infusion associated reactions are not associated with an IgE mediated mechanism.
CasePreviousTesting:
GAA activity on fibroblast is 0.8 nmol/mg prot/h with a reference range of 64.4 ± 22.9 nmol/mg prot/h
GAA activity on lymphocytes is 2.2 nmol 4 Mu/mg prot/h with a reference range of 21.4 ± 6.2 nmol 4 Mu/mg prot/h
Variants:<br /> Variant 1: NM_000152.5(GAA):c.236_246del (p.Pro79fs)
ClinVar: 371302
CAID: 16041880
Variant 2: NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)
ClinVar:279811
CAID: 8815429
gnomAD: N/A
ParentalGenotype: N/A
PreviouslyPublished: N/A
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Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa
PMID: 30778879
Gene: GAA
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Case 2A 50-day-old male infant was diagnosed with IOPD (Table 1)
Case#: Case 2, male, 50 days old when diagnosed, ethnicity unknown
DiseaseAssertion: Pompe disease
FamilyInfo: N/A
CasePresentingHPOs: HP:0001638, HP:0001252, HP:0000282 (cardiomyopathy, muscular hypotonia, facial edema)
CaseHPOFreeText:(Associated to Pompe disease) increased serum CK.
CaseHPOFreeText: (Infussion associated reactions) Generalized rash, cough and bronchospasm
CaseNotHPOs: N/A
CaseNotHPOFreeText: Infusion associated reactions are not associated with an IgE mediated mechanism.
CasePreviousTesting: See Table 1 for reports on GAA metabolic activity.
GAA activity in dried blood spots is 0 μmol/l/h with a reference range of 1.86–21.9 μmol/l/h
GAA activity on lymphocytes is 0.5 nmol 4 Mu/mg prot/h with a reference range of 21.4 ± 6.2 nmol 4 Mu/mg prot/h
Variant: c1124G>T (p.R375L)
ClinVar: N/A
CAID: N/A
gnomAD: N/A
ParentalGenotype: N/A
PreviouslyPublished: N/A
Tags
- HGNC:4065
- ClinVarID:279811
- inferred_gene_hgnc:4065
- inferred_gene_source:hgnc_tag
- Gene:GAA
- CAid:CA8815429
- DiseaseEntity:PompeDisease
- Zygosity:CompoundHeterozygous
- PreviousTesting:GAAmeasurement
- Individual
- GAA variant
- General
- ClinVarID: 371302
- gene:GAA
- ParentalTest:None
- CaseInfo
- Zygosity:Homozygous
- CAid:CA16041880
- UnregisteredVariant
Annotators
URL
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Unusual Cardiac “Masses” in a Newborn with Infantile Pompe Disease
PMID: 23430912
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE
PMID: 23430513
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease
PMID: 31392188
Gene: GAA
Disease: Pompe disease
Inheritance: Autosomal recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy
PMID: 23787031
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Pearls & Oy-sters: Clues to the diagnosis of adult-onset acid maltase deficiency
PMID: 24590251
Gene: GAA
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www-sciencedirect-com.libproxy.lib.unc.edu www-sciencedirect-com.libproxy.lib.unc.edu
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Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA in a 61-year-old woman diagnosed with Pompe disease by muscle biopsy
PMID: 30770309 Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening
PMID: PMC7780922
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Modeling CNS Involvement in Pompe Disease Using Neural Stem Cells Generated from Patient-Derived Induced Pluripotent Stem Cells
PMID: PMC7822217
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Clinical laboratory experience of blood CRIM testing in infantile Pompe disease
PMID: 26693141
Gene: GAA
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www.sciencedirect.com www.sciencedirect.com
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Novel GAA mutations in patients with Pompe disease
PMID: 25681614
Gene: GAA
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www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
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Function, structure and quality of striated muscles in the lower extremities in patients with late onset Pompe Disease—an MRI study
PMID: 33996274
Gene: GAA
Disease: Pompe Disease
Inheritance: Autosomal Recessive
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