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    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 25 Oct 2026
      8/M

      Case#: 8, Male, 2, 5 years (onset), 3,5 months (diagnosed), 16 years (report)

      DiseaseAssertion: Hurler-Scheie Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0000256, HP:0001387, HP:0002240, HP:0001744, HP:0001537, HP:001285, HP:0000280, HP:0000943, HP:0007957 (Macrocephaly, Joint Stiffness, Hepatomegaly (mild before HSCT), Splenomegaly (mild before HSCT), Umbilical Hernia, Carpal tunnel syndrome, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: Mental Development (Borderline developmental quotient at 3y, IQ 117 at 12y)

      CaseNotHPOs: HP:0004322, HP:0002240, HP:0001744 (Short Stature, Hepatomegaly (after HSCT), Splenomegaly (after HSCT))

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: normal IDUA activity at 16 years

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: Hematopoietic Stem Cell Transplantation at 5y

      GenotypingMethod: Not Provided

      Variant1: p.W402X

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: p.E640fs

      Variant2ClinVarID: 558359

      Variant2CAID: CA355966048

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA220498 ClinVarID:11908 CAID:CA355966048 ClinVarID:558359 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      9/F

      Case#: 9, Female, 3-4 years (onset), 4 years (diagnosed), 20 years (report), deceased (accidentally at 21y)

      DiseaseAssertion: Hurler-Scheie Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0000256, HP:0001387, HP:0002240, HP:0001744, HP:0001639, HP:001285, HP:0000158, HP:0000280, HP:0000943, HP:0007957 (Macrocephaly, Joint Stiffness (Severe and progressive), Hepatomegaly (Severe at diagnosis but none at report), Splenomegaly (mild at diagnosis and report), Hypertrophic Cardiomyopathy (Progressive), Carpal tunnel syndrome, Large Tongue, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: Mental Development (Uneven Development at 2y; IQ 117 at 12y)

      CaseNotHPOs: HP:0004322 (Short Stature)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: ERT since 18y

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.W402X

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: p.E640fs

      Variant2ClinVarID: 558359

      Variant2CAID: CA355966048

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA220498 ClinVarID:11908 ClinVarID:558359 CAID:CA355966048 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3526155/