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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
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    1. ClingenBaseline 23 Oct 2026
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      Case#: Patient 2 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 2 was diagnosed at 1 year.

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facies, corneal clouding, skeletal abnormalities, cardiac abnormalities, and hepatosplenomegaly (HP:0000256, HP:0007957, HP:0002360, HP:0001627, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Intellectual disability, growth delay, hernias (HP:0001249, HP:0001510, HP:0100790)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: IDUA activity of 2.8 nmol/mg/protein/hr. No reference range provided.

      CaseUrineGAGs: 733.8 CPC unit/g creatinine. No reference range provided.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1163C>A (p.T388K)

      Variant1ClinVarID: 198696

      Variant1CAID: CA247499

      Variant2: c.1163C>A (p.T388K)

      Variant2ClinVarID: 198696

      Variant2CAID: CA247499

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:198696 CAID:CA247499 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4983032/