2 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families
    2
    1. ClingenBaseline 21 Oct 2026
      2/m

      Case#: 2, Male, Han Chinese

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0001249, HP:0007957, HP:0001433 (Mental Retardation (severe), Corneal Clouding, Hepatosplenomegaly)

      CaseHPOFreeText: Skeletal Deformities

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0 Leukocyte IDUA activity (nmol/h/mg protein) (isolated leukocytes in the latter)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Using the artificial substrate 4-methyl-umbelliferyl α-L-iduronide (Sigma)

      Variant1: c.1190-1G>A

      Variant1ClinVarID: 1204494

      Variant1CAID: CA355963511

      Variant2: c.1190-1G>A

      Variant2ClinVarID: 1204494

      Variant2CAID: CA355963511

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA355963511 ClinVarID:1204494 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      5/m

      Case#: 5, Male, Han Chinese

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0001249, HP:0007957, HP:0001433 (Mental Retardation (severe), Corneal Clouding, Hepatosplenomegaly)

      CaseHPOFreeText: Skeletal Deformities

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0 Leukocyte IDUA activity (nmol/h/mg protein) (isolated leukocytes in the latter)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Using the artificial substrate 4-methyl-umbelliferyl α-L-iduronide (Sigma)

      Variant1: c.1190-1G>A

      Variant1ClinVarID: 1204494

      Variant1CAID: CA355963511

      Variant2: c.1190-1G>A

      Variant2ClinVarID: 1204494

      Variant2CAID: CA355963511

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo ClinVarID:1204494 CAID:CA355963511 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3115308/