2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
    1
    1. ClingenBaseline 23 Oct 2026
      Hurler disease

      Case#: Patient 9, 11 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0100790)

      CaseHPOFreeText: Cardiac disease

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 4.5% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.523_534del (p.Trp175_Glu178del)

      Variant1ClinVarID: 2734635

      Variant1CAID: CA645372297

      Variant2: c.523_534del (p.Trp175_Glu178del)

      Variant2ClinVarID: 2734635

      Variant2CAID: CA645372297

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:2734635 CAID:CA645372297 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
    1
    1. ClingenBaseline 22 Oct 2026
      c.523_534delTGGAACTTCGAG

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.523_534delTGGAACTTCGAG (p.Trp175_Glu178del)

      Variant1ClinVarID: 2734635

      Variant1CAID: CA645372297

      Variant2: c.523_534delTGGAACTTCGAG (p.Trp175_Glu178del)

      Variant2ClinVarID: 2734635

      Variant2CAID: CA645372297

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 CAID:CA645372297 ClinVarID:2734635 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301