5 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
    1
    1. ClingenBaseline 21 Oct 2026
      Hurler/Scheie

      Case#: 0.3% residual activity at 37 °C

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.9 ± 0.1 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1469T>C (p.L490P)

      Variant1ClinVarID: 11919

      Variant1CAID: CA220503

      Variant2: c.1598C>G (p.P533R)

      ClinVarID: 11919

      Variant2CAID: CA220503

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11919 CAID:CA220503 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S1096719213001820
  3. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
    1
    1. ClingenBaseline 21 Oct 2026
      20

      Case#: Patient 20, male, 8 years (age at presentation).

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: Consanguinity in the family not present for this patient.

      CasePresentingHPOs: Corneal clouding, coarse facial features, cardiomyopathy, dystosis multiplex (HP:0007957, HP:0000256, HP:0001638, HP:0000943)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1469T>C (p.L490P)

      Variant1ClinVarID: 11919

      Variant1CAID: CA220503

      Variant2: c.1469T>C (p.L490P)

      Variant2ClinVarID: 11919

      Variant2CAID: CA220503

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11919 CAID:CA220503 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships
    1
    1. ClingenBaseline 21 Oct 2026
      oldest sibling

      Case#: OS of sibship 5 (see Table 1), female, 3 years old (age at diagnosis), 5.8 years old (age at ERT enrollment), 8.6 years (duration of ERT)

      DiseaseAssertion: MPS1-HS

      FamilyInfo: Two affected YS (YS1 and YS2 of sibship 5)

      CasePresentingHPOs: HP:0007957, HP:0002828, HP:0001270 (Corneal opacity, joint contractures, motor delay)

      CaseHPOFreeText: Cardiac disease, ocular disease

      CaseNotHPOs: HP:0000943 (Dysostosis)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes - There were improvements in organomegaly and motor function. Pulmonary function was at 30–40 % of normal at follow-up (no information available at T1). Ocular involvement and lower extremity joint symptoms progressed, but cardiac disease remained stable.

      CaseBMT: N/A

      Variant1: c.1469T>C (p.L490P)

      Variant1ClinVarID: 11919

      Variant1CAID: CA220503

      Variant2: c.1469T>C (p.L490P)

      Variant2ClinVarID: 11919

      Variant2CAID: CA220503

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11919 CAID:CA220503 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4597395/
  5. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    1
    1. ClingenBaseline 21 Oct 2026
      missense mutations

      Case#: Patient 82, Turkey

      DiseaseAssertion: MPS1-S

      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.1469T>C (p.L490P)

      Variant1ClinVarID: 11919

      Variant1CAID: CA220503

      Variant2: c.1469T>C (p.L490P)

      Variant2ClinVarID: 11919

      Variant2CAID: CA220503

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11919 CAID:CA220503 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    1
    1. ClingenBaseline 21 Oct 2026
      5 Hurler/Scheie

      Case#: Family 21, Pakistan

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: The α-L-iduronidase enzyme activities in leucocytes from all patients in the study was measured using the artificial substrate 4-methylumbelliferyl α-L iduronide (Sigma). Values ranged from 0 to 2.47 nmol/h/mg protein (reference range: 28–92 nmol/h/mg protein) and did not correlate to the clinical phenotype.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1469T>C (p.L490P)

      Variant1ClinVarID: 11919

      Variant1CAID: CA220503

      Variant2: c.1469T>C (p.L490P)

      Variant2ClinVarID: 11919

      Variant2CAID: CA220503

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11919 CAID:CA220503 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/11735025/