3 Matching Annotations
  1. Last 7 days
  2. link.springer.com link.springer.com
    Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD)
    1
    1. ClingenBaseline 23 Oct 2026
      12

      Patient12: 53yo

      CasePresentingHPOs: HP:0003325, HP:0002093, HP:0002315

      HPOsFreeText: morning headache, GAA = 5%, BMI = 27.4, left ventricular artery dominant, subcortical white matter lacunes

      CaseNotHPOs:

      NotHPOsFreeText: No cardiovascular risk

      CaseAddInfo: 11yr disease duration, variants in trans

      CasePMIDs:

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: 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: NM_000152.4(GAA):c.670C>T (p.Arg224Trp)

      ClinVar: 189188, https://www.ncbi.nlm.nih.gov/clinvar/variation/189188/

      gnomAD: 2.53e-05, http://exac.broadinstitute.org/variant/17-78079671-C-T

      Individual Variant CaseInfo EnzymeActivity ClinVarID:4027 ClinVarID:189188 inferred_gene_hgnc:10484 inferred_gene_source:ClinVar GAA variant
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    link.springer.com/article/10.1007/s10545-015-9913-x
  3. www.nature.com www.nature.com
    Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study
    1
    1. ClingenBaseline 22 Oct 2026
      (Supplementary Table S3 shows details, IgG trajectories, and outcomes).

      Patient 11 - LOPD

      Variant1: NM_000152.4(GAA):c.670C>T (p.Arg224Trp)

      ClinVar: 189188, https://www.ncbi.nlm.nih.gov/clinvar/variation/189188/

      gnomAD: 0.00002184, http://gnomad.broadinstitute.org/variant/17-78079671-C-T

      Variant2: NM_000152.4(GAA):c.2331+2T>A

      ClinVar: 371281, https://www.ncbi.nlm.nih.gov/clinvar/variation/371281/

      gnomAD: 0.000004033, http://gnomad.broadinstitute.org/variant/17-78090910-T-A

      Individual CaseInfo Variant ClinVarID:189188 ClinVarID:371281 inferred_gene_hgnc:10484 inferred_gene_source:ClinVar GAA variant
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    nature.com/articles/gim20182
  4. ojrd.biomedcentral.com ojrd.biomedcentral.com
    Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy
    1
    1. ClingenBaseline 22 Oct 2026
      8/F

      Patient8: Female

      CasePresentingHPOs: HP:0004887, HP:0001270

      HPOsFreeText: CRIM positive, tracheostomy partial heart normalization

      CaseNotHPOs: HP:0025156, HP:0001371

      NotHPOsFreeText: infusion associated reaction

      CaseAddInfo: variants in trans, symptom onset at 1yo, diagnosis at 9yo, ERT at 10yo. Died due to infusion reaction with ERT.

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: 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

      Variant2: NM_000152.4(GAA):c.670C>T (p.Arg224Trp)

      ClinVar: 189188, https://www.ncbi.nlm.nih.gov/clinvar/variation/189188/

      gnomAD: 2.53e-05, http://exac.broadinstitute.org/variant/17-78079671-C-T

      Individual CaseInfo Variant ClinVarID:4033 ClinVarID:189188 inferred_gene_hgnc:10484 inferred_gene_source:ClinVar GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0