9 Matching Annotations
  1. Last 7 days
  2. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Decreased outlet angle of the superior cerebellar artery as indicator for dolichoectasia in late onset Pompe disease
    3
    1. ClingenBaseline 06 Nov 2026
      P15

      Patient15: Female, 56yo

      CasePresentingHPOs: HP:0003077, HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 19yr disease duration, ERT lasted 48mo

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      P14

      Patient14: Female, 54yo

      CasePresentingHPOs: HP:0003077, HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 18yr disease duration, ERT lasted 44mo

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    3. ClingenBaseline 06 Nov 2026
      P10a

      Patient10: Female, 75yo

      CasePresentingHPOs: HP:0000822

      HPOsFreeText: LOPD

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo: 5yr follow-up MRI, 40yr disease duration, ERT lasted 103mo

      CasePMIDs: PMID: 25614309

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (del exon 18)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0794-6
  3. onlinelibrary.wiley.com onlinelibrary.wiley.com
    Effects of a higher dose of alglucosidase alfa on ventilator‐free survival and motor outcome in classic infantile Pompe disease: an open‐label single‐center study
    1
    1. ClingenBaseline 06 Nov 2026
      4

      Patient4: Male, 2.2mo at ERT start, 1.7yo at study end

      CasePresentingHPOs:

      HPOsFreeText: treated with 20mg/kg/2wks, patient had 3 infusion associated reactions

      CaseNotHPOs:

      NotHPOsFreeText:

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481 + 102_2646 + 31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Variant2: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 0.00009959, http://gnomad.broadinstitute.org/variant/17-78078909-CT-C

      Individual CaseInfo Variant ClinVarID:456368 ClinVarID:4033 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary.wiley.com/doi/full/10.1007/s10545-015-9912-y
  4. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 06 Nov 2026
      14

      Patient14: 48yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0004944

      HPOsFreeText: GAA = 6.5%, BMI = 20.3, MCA M1 tract aneurysm (2mm), normal CT

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 28yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    link.springer.com/article/10.1007/s10545-015-9913-x
  5. www.nature.com www.nature.com
    Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy
    1
    1. ClingenBaseline 06 Nov 2026
      Here, we investigated anti-rhGAA antibody formation in a cohort of 73 adult Pompe patients during a period of 3 years of ERT. We measured their neutralizing effect on GAA enzymatic activity and cellular uptake and their impact on clinical outcome.

      GroupPresentingHPOs: HP:0005952, HP:0030197

      HPOsFreeText: LOPD confirmed by enzyme analysis in leukocytes or fibroblasts and mutation analysis, median GAA activity in leukocytes = 1.0 nmol glucose/mg hour, median GAA activity in fibroblasts = 12.9 nmol 4MU/mg hour, median MRC sum score = 80.8, 7 patients had total wheelchair dependence, 17 patients had partial wheelchair dependence, median upright FVC = 71.9%, median supine FVC = 54.0%, 4 patients required invasive ventilation, 18 required NIV, 13 patients experienced infusion associated reactions

      GroupNotHPOs:

      NotHPOsFreeText: no ERT treatments prior to study, no pregnant patients

      NumberMales: 37

      NumberFemales: 36

      CountryOrigin: n/a

      Ethnicity: n/a

      Race: n/a

      AgeRange: at symtom onset = 1.4-62.6yrs, at diagnosis = 1.4-72.7yrs, at ERT start = 26.2-74.0yrs

      TotalNumber: 73

      FamilyInfo: n/a

      NoFamily: n/a

      GroupAddInfo: all patients received ERT of 20mg/kg/2wk alglucosidase alfa intravenoulsy, minimum 5 months of treatment. Median duration of disease = 8.2yrs

      GroupPreviousTesting: anti-rhGAA antibody titers determined in plasma or serum using ELISA, neutralizing effects of antibodies determined by addition of alglucosidase alfa and patient serum to medium of GAA-deficient fibroblasts then by measurement of GAA activity in cells and medium, manual muscle testing to assess skeletal muscle strength, FVC in upright and supine positions, 46 patients developed anti-rhGAA titers about background of 1:250 (16 high, 29 intermediate, 28 low to no)

      GroupGenotypingMethod: mutation analysis (PMID: 18425781)

      Variant1: NM_000152.4(GAA):c.-32-13T>G this was carried by all but 1 patient

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      The following are the four most common variants on the second allele

      Variant2: NM_000152.4(GAA):c.525delT (p.Glu176Argfs)

      ClinVar: 4033, https://www.ncbi.nlm.nih.gov/clinvar/variation/4033/

      gnomAD: 7.041e-05, http://exac.broadinstitute.org/variant/17-78078909-CT-C

      Variant3: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Variant4: NM_000152.4(GAA):c.1548G>A (p.Trp516Ter)

      ClinVar: 189025, https://www.ncbi.nlm.nih.gov/clinvar/variation/189025/

      gnomAD: n/a

      Variant5: NM_000152.4(GAA):c.925G>A (p.Gly309Arg)

      ClinVar: 188797, https://www.ncbi.nlm.nih.gov/clinvar/variation/188797/

      gnomAD: 4.609e-05, http://exac.broadinstitute.org/variant/17-78081665-G-A

      Group Phenotypes Demographics GenotypingMethod PreviousTesting Variant EnzymeActivity ClinVarID:4027 ClinVarID:4033 ClinVarID:456368 ClinVarID:189025 ClinVarID:188797 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    nature.com/articles/gim201670
  6. jnnp.bmj.com jnnp.bmj.com
    LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population
    2
    1. ClingenBaseline 06 Nov 2026
      8

      Case#: Patient 8, male

      CasePresentingHPOs: HP:0003236, HP:0003325

      CaseAddInfo: 30yo at onset, 35yo at diagnosis

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026
      11

      Case#: Patient 11, male

      CasePresentingHPOs: HP:0003236, HP:0003325

      CaseAddInfo: 24yo at onset, 47yo at diagnosis

      VariantAllele1: NM_000152.4(GAA):c.-32-13T>G

      ClinVar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      VariantAllele2: NC_000017.11:g.(?80118193)(80118357_?)del

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    jnnp.bmj.com/content/87/1/5
  7. journals.plos.org journals.plos.org
    Quantification of intramuscular fat in patients with late-onset Pompe disease by conventional magnetic resonance imaging for the long-term follow-up of enzyme replacement therapy
    1
    1. ClingenBaseline 06 Nov 2026
      Detailed characteristics of these patients

      Patient13: male, 32yo, juvenile onset

      CasePresentingHPOs:

      HPOsFreeText: LOPD, BMI = 24.9 / 25 / n-a, WGMS = 3 / 3 / n-a

      CaseNotHPOs: HP:0002355

      NotHPOsFreeText: did not require respiratory support

      CaseAddInfo:

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.4(GAA):c.-32-13T>G

      Clinvar: 4027, https://www.ncbi.nlm.nih.gov/clinvar/variation/4027/

      gnomAD: 0.003582, http://exac.broadinstitute.org/variant/17-78078341-T-G

      Variant2: NC_000017.11:g.(?80118193)(80118357_?)del (c.2481+102_2646+31del)

      ClinVar: 456368, https://www.ncbi.nlm.nih.gov/clinvar/variation/456368/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:4027 ClinVarID:456368 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.plos.org/plosone/article