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  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan
    8
    2. ClingenBaseline 23 Oct 2026
      29

      Patient29: Female, 30 years onset

      CasePresentingHPOs: HP:0001324, HP:0001288 (Muscle weakness, Gait disturbance)

      HPOsFreeText: GAA activity 4% from leukocyte

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      CaseInfo Individual ClinVarID:370637 inferred_gene_hgnc:11273 inferred_gene_source:ClinVar GAA variant
    6. ClingenBaseline 22 Oct 2026
      22

      Patient22: Male, 30 years report, 23 year onset

      CasePresentingHPOs: HP:0001324, HP:0002098 (Muscle weakness, Respiratory distress)

      HPOsFreeText: GAA activity 1.1% from leukocyte, Wheelchair needed

      CaseNotHPOs: HP:0001640, HP:0002240 (Cardiomegaly, Hepatomegaly)

      NotHPOsFreeText: Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:370637 ClinVarID:556117 inferred_gene_hgnc:11273 inferred_gene_source:ClinVar GAA variant
    8. ClingenBaseline 22 Oct 2026
      16

      Patient16: Female, 36 years report, 28 years onset

      CasePresentingHPOs: HP:0001324 (Muscle weakness)

      HPOsFreeText: GAA activity 1% from a dried blood spot

      CaseNotHPOs: HP:0002098, HP:0002240, HP:0001640 (Respiratory distress, Hepatomegaly, Cardiomegaly)

      NotHPOsFreeText: No wheelchair needed, Respiratory Assistance not needed

      CaseAddInfo: LOPD

      Individual CaseInfo ClinVarID:370637 ClinVarID:558604 inferred_gene_hgnc:11273 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5671405/
  3. www.sciencedirect.com www.sciencedirect.com
    Targeted population screening of late onset Pompe disease in unspecified myopathy patients for Korean population
    1
    1. ClingenBaseline 22 Oct 2026
      44

      Case44: Male, 10yo at onset, 15yo at enrollment

      CasePresentingHPOs: HP:0007340, HP:0003701, HP:0003327, HP:0003236, HP:0002111, HP:0100748, HP:0003458

      HPOsFreeText: symmetric muscle weakness of extremities, CK = 3313 IU/L, FVC = 23%, Unspecific myopathic change, DBS GAA activity = 0.1, mixed leukocyte GAA activity = 1.80

      CaseNotHPOs: HP:0001627, HP:0002086

      NotHPOsFreeText:

      CaseAddInfo: 5 years between onset and diagnosis

      CasePreviousTesting: clinical history, laboratory data, DBS and ML assays to measure GAA activity, electromyography, muscle pathology analysis

      CaseGenotypingMethod: full sequencing of GAA gene

      VariantAllele1: NM_000152.4(GAA):c.546G>T (p.Thr182=)

      ClinVar: 370637, https://www.ncbi.nlm.nih.gov/clinvar/variation/370637/

      gnomAD: n/a

      VariantAllele2: NM_000152.4(GAA):c.1316T>A (p.Met439Lys)

      ClinVar: 371305, https://www.ncbi.nlm.nih.gov/clinvar/variation/371305/

      gnomAD: 3.988e-05, http://exac.broadinstitute.org/variant/17-78082617-T-A

      Individual CaseInfo GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:370637 ClinVarID:371305 inferred_gene_hgnc:11273 inferred_gene_source:ClinVar GAA variant
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    sciencedirect.com/science/article/pii/S0960896617300275