7 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
    3
    1. ClingenBaseline 24 Oct 2026
      Scheie

      Case#: 1.8% residual activity at 37 °C

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 4.9 ± 1.5 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.826G>A (p.E276K)

      Variant1ClinVarID: 3233261

      Variant1CAID: CA355962355

      Variant2: c.826G>A (p.E276K)

      ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:3233261 CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 24 Oct 2026
      Scheie

      Case#: 1.2% residual activity at 37 °C

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.3 ± 1.1 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.826G>A (p.E276K)

      Variant1ClinVarID: 3233261

      Variant1CAID: CA355962355

      Variant2: c.826G>A (p.E276K)

      ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:3233261 CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 23 Oct 2026
      Scheie

      Case#: 1.1% residual activity at 37 °C

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.0 ± 0.4 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.826G>A (p.E276K)

      Variant1ClinVarID: 3233261

      Variant1CAID: CA355962355

      Variant2: c.826G>A (p.E276K)

      ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:3233261 CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S1096719213001820
  3. 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
    2
    1. ClingenBaseline 24 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 102, Greece

      DiseaseAssertion: MPS1-H/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.250G>C (p.G84R)

      Variant1ClinVarID: 3906899

      Variant1CAID: CA355946488

      Variant2: c.826G>A (p.E276K)

      Variant2ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:3906899 CAID:CA355946488 ClinVarID:3233261 CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 93, 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.826G>A (p.E276K)

      Variant1ClinVarID: 3233261

      Variant1CAID: CA355962355

      Variant2: c.826G>A (p.E276K)

      Variant2ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:3233261 CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A novel p.E276K IDUA mutation decreasing α-L-iduronidase activity causes mucopolysaccharidosis type I
    1
    1. ClingenBaseline 23 Oct 2026
      Patient 2

      Case#: Patient 2, female, 29 years old (age at diagnosis)

      DiseaseAssertion: MPS I-S

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, corneal clouding, claw hand deformity (HP:0000280, HP:0007957, HP:0034337)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Yes - a significant reduction in enzyme activity (0.61 nmol/h/mg protein). The mean of α-L-iduronidase activity in leukocytes obtained from eight unaffected adult Thai controls was 23.10±8.80 nmol/h/mg protein.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.826G>A (p.E276K)

      Variant1ClinVarID: 3233261

      Variant1CAID: CA355962355

      Variant2: c.826G>A (p.E276K)

      Variant2ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CAID:CA355962355 Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:3233261 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3042362/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Insights into Mucopolysaccharidosis I from the structure and action of α-L-Iduronidase
    1
    1. ClingenBaseline 22 Oct 2026

      Case#: Variant not associated with a proband. Variant listed in supplementary materials in Supplementary Table 4

      DiseaseAssertion: Mucopolysaccharidosis type I, MPS I

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: E276K

      Variant1ClinVarID:

      Variant1CAID: CA355962355

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo SupplementalData CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/