3 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
    2
    1. ClingenBaseline 26 Oct 2026
      5/M

      Case#: 5, Male, 1 year (onset), 3 years (diagnosed), 3 years (report)

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0001387, HP:0002240, HP:0001744, HP:0000501, HP:0000280, HP:0000943, HP:0007957 (Joint Stiffness, Hepatomegaly (moderate), Splenomegaly (moderate), Glaucoma, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: Mental Development (delayed since 2y), LV hypertrophy (at 3y)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.W402X

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: p.V620F

      Variant2ClinVarID: 1067173

      Variant2CAID: CA355965934

      AdditionalVariants: p.R105Q, p.N181, p.A314, p.T410, p.V454I, p.R489

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA220498 ClinVarID:11908 CAID:CA355965934 ClinVarID:1067173 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      20/F

      Case#: 20, Female, infancy (onset), 2 years (diagnosed), 2 years (report)

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0004322, HP:0002240, HP:0001744, HP:0000280, HP:0000943, HP:0007957 (Short Stature, Hepatomegaly, Splenomegaly, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: (Mental Development (delayed since early infancy), Mild LV hypertrophy, Frequent respiratory infections, Vision Impairment and Hearing Loss)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.V620F

      Variant1ClinVarID: 1067173

      Variant1CAID: CA355965934

      Variant2: p.V620F

      Variant2ClinVarID: 1067173

      Variant2CAID: CA355965934

      AdditionalVariants: p.R105Q/R105Q, p.N181/N181, p.A314/A314, p.A361T/A361T, p.T388/T388, p.T410/T410, p.V454I/V454I, p.R489/R489

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA355965934 ClinVarID:1067173 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3526155/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
    1
    1. ClingenBaseline 21 Oct 2026
      10 MPS I patients

      Case#: MPS 1 patient

      DiseaseAssertion: N/A

      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.1858G>T (p.V620F)

      Variant1ClinVarID: 1067173

      Variant1CAID: CA355965934

      Variant2: c.1858G>T (p.V620F)

      Variant2ClinVarID: 1067173

      Variant2CAID: CA355965934

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:1067173 CAID:CA355965934 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/19954743/