1 Matching Annotations
  1. Last 7 days
  2. 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
      17/M

      Patient17: Male

      CasePresentingHPOs: HP:0004887, HP:0011471, HP:0001270, HP:0002546

      HPOsFreeText: CRIM negative, tracheostomy, heart normalization

      CaseNotHPOs: HP:0000365, HP:0001371

      NotHPOsFreeText: infusion associated reaction

      CaseAddInfo: homozygous variants in trans, symptom onset at 2yo, diagnosis and ERT at 6yo

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant: NM_000152.4(GAA):c.1A>G (p.Met1Val)

      ClinVar: 188785, https://www.ncbi.nlm.nih.gov/clinvar/variation/188785/

      gnomAD: n/a

      Individual CaseInfo Variant ClinVarID:188785 inferred_gene_hgnc:12840 inferred_gene_source:ClinVar GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0