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 23 Oct 2026
      9/M

      Patient9: male

      CasePresentingHPOs: HP:0001270

      HPOsFreeText: CRIM negative, Anti-rh GGA antibodies maximum titer = 1:102.400, able to sit independently, partial heart normalization

      CaseNotHPOs: HP:0004887, HP:0025156, HP:0001371

      NotHPOsFreeText: infusion associated reaction

      CaseAddInfo: homozygous variants in trans, symptom onset at birth, diagnosis at 5 days, ERT at 1 year. Died due to cardiorespiratory failure.

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.1497G>A

      CAID: CA401367008, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401367008

      gnomAD: n/a

      Individual CaseInfo Variant CA401367008 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    Visit annotations in context

    Tags

    Annotators

    URL

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