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  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
    2
    1. ClingenBaseline 23 Oct 2026
      3/F

      Patient3: female

      CasePresentingHPOs: HP:0001270, HP:0001371

      HPOsFreeText: CRIM positive, partial heart normalization

      CaseNotHPOs: HP:0004887, HP:0025156

      NotHPOsFreeText: infusion associate reaction

      CaseAddInfo: symptom onset at 1yo, diagnosis and ERT at 5yo. Died due to failure to respond to ERT.

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant 1-3 in cis

      Variant1: NM_000152.3:c.1833_1839del

      CAID: CA913184757, http://reg.clinicalgenome.org/redmine/projects/registry/gene_indel

      gnomAD: n/a

      Variant2: NM_000152.3:c.1846G>T

      CAID: CA401369607, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401369607

      gnomAD: n/a

      Variant3: NM_000152.3:c.1847_1848insT

      CAID: CA913184758, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184758

      gnomAD: n/a

      Variant4: NM_000152.4(GAA):c.1124G>T (p.Arg375Leu)

      ClinVar: 283230, https://www.ncbi.nlm.nih.gov/clinvar/variation/283230/

      gnomAD: 8.561e-06, http://exac.broadinstitute.org/variant/17-78082336-G-T

      Individual CaseInfo Variant CA913184757 CA401369607 CA913184758 ClinVarID:283230 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    2. ClingenBaseline 23 Oct 2026
      10/M

      Patient10: male

      CasePresentingHPOs: HP:0011471, HP:0001270, HP:0004887, HP:0002546, HP:0001371

      HPOsFreeText: CRIM negative, Anti-rh GGA antibodies maximum titer = 1:25.600, immunomodulation = 14m, infusion associated reaction, tracheostomy, partial heart normalization

      CaseNotHPOs:

      CaseAddInfo: variants 1-3 in cis, but homozygous in trans, symptom onset at 2yo, diagnosis and ERT at 7yo. Died at 60mo due to cardiorespiratory failure.

      CasePreviousTesting: same as group

      CaseGenotypingMethod: same as group

      Variant1: NM_000152.3:c.1833_1839del

      CAID: CA913184757, http://reg.clinicalgenome.org/redmine/projects/registry/gene_indel

      gnomAD: n/a

      Variant2: NM_000152.3:c.1846G>T

      CAID: CA401369607, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA401369607

      gnomAD: n/a

      Variant3: NM_000152.3:c.1847_1848insT

      CAID: CA913184758, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA913184758

      gnomAD: n/a

      Individual CaseInfo Variant CA913184757 CA401369607 CA913184758 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    ojrd.biomedcentral.com/articles/10.1186/s13023-018-0771-0