2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Efficacy of recombinant human alpha-L-iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients
    2
    1. ClingenBaseline 23 Oct 2026
      Scheie

      Case#: Patient 17 (group 2), Poland, female 39 years old (age at diagnosis), 39 years old (age at baseline), 42 years old (current age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: Limitation of join mobility, joint stiffness (HP:0001376, HP:0001387)

      CaseHPOFreeText: Patients in group 2 had normal mental development or only slightly delayed mental development and, therefore, could undergo active physical rehabilitation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Diagnosis of MPS I was confirmed by the biochemical determination of α-L-iduronidase activity deficiency in leukocytes and by molecular analysis.

      CaseUrineGAGs: N/A

      CaseERT: Yes, weekly infusions for 52-208 weeks (depending on the patient)

      CaseBMT: N/A

      Variant1: There are multiple variants listed for this patient (974-975ins12/L118, N181,IVS5(1486)C>T, IVS8(2537)insC,T410, V4541,R489, IVS10(3013)G>T, IVS12(3512)T>G) all of which have old, difficult nomenclature. Therefore, we cannot determine what the current nomenclature is.

      Variant1ClinVarID: N/A

      Variant1CAID: N/A

      Variant2: See above.

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 Old nomenclature inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      Scheie

      Case#: Patient 16 (group 2), Poland, male 32 years old (age at diagnosis), 32 years old (age at baseline), 35 years old (current age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: Limitation of join mobility, joint stiffness (HP:0001376, HP:0001387)

      CaseHPOFreeText: Patients in group 2 had normal mental development or only slightly delayed mental development and, therefore, could undergo active physical rehabilitation.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Diagnosis of MPS I was confirmed by the biochemical determination of α-L-iduronidase activity deficiency in leukocytes and by molecular analysis.

      CaseUrineGAGs: N/A

      CaseERT: Yes, weekly infusions for 52-208 weeks (depending on the patient)

      CaseBMT: N/A

      Variant1: There are multiple variants listed for this patient (974-975ins12/L118, N181,IVS5(1486)C>T, IVS8(2537)insC,T410, V4541,R489, IVS10(3013)G>T, IVS12(3512)T>G) all of which have old, difficult nomenclature. Therefore, we cannot determine what the current nomenclature is.

      Variant1ClinVarID: N/A

      Variant1CAID: N/A

      Variant2: See above.

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo Old nomenclature inferred_gene_hgnc:5391 inferred_gene_source:Gene_Name IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/20217237/