1 Matching Annotations
  1. Last 7 days
  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
    1
    1. ClingenBaseline 26 Oct 2026
      6

      Case#: Patient 6 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 6 was diagnosed at 1 year.

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facies, corneal clouding, hernias, intellectual disability, skeletal abnormalities, cardiac abnormalities, and hepatosplenomegaly (HP:0000256, HP:0007957, HP:0100790, HP:0001249, HP:0002360, HP:0001627, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Growth delay (HP:0001510)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: IDUA activity of 1.78 nmol/mg/protein/hr. No reference range provided.

      CaseUrineGAGs: 2517.8 CPC unit/g creatinine. No reference range provided.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1487C>G (p.P496R)

      Variant1ClinVarID: 496861

      Variant1CAID: CA2802275

      Variant2: c.1854C>A (p.Y618X)

      Variant2ClinVarID: 554826

      Variant2CAID: CA355965929

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:496861 CAID:CA2802275 ClinVarID:554826 CAID:CA355965929 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4983032/