3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I
    1
    1. ClingenBaseline 24 Oct 2026
      c.1898C > A

      Case#: No additional case information provided

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.13 umol/g hr, reference range 10–50 umol/g hr.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1898C>A (p.S633X)

      Variant1ClinVarID: 1068474

      Variant1CAID: CA355966009

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1068474 CAID:CA355966009 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1002/humu.23301
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I
    1
    1. ClingenBaseline 24 Oct 2026
      31

      Case#: Patient 31 (Table 3)

      DiseaseAssertion: Severe naïve MPS 1

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2 nmol/h/mg per DBS (dried blood spots) determined during NBS. 7.57 relative protein abundance, expressed as the ratio between IDUA/GAA (amol / fmol) in buccal swabs.

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1898C>A (p.S633Ter)

      Variant1ClinVarID: 1068474

      Variant1CAID: CA355966009

      Variant2: c.298A>G (p.R100G)

      Variant2ClinVarID: 2058952

      Variant2CAID: CA2801159

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1068474 CAID:CA355966009 ClinVarID:2058952 CAID:CA2801159 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10387444/
  4. onlinelibrary.wiley.com onlinelibrary.wiley.com
    The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)
    1
    1. ClingenBaseline 23 Oct 2026
      20

      Case#: Patient 20, born in 2003 (paper published in 2017), 20 months (age at first treatment)

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: Corneal clouding (HP:0007957)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Retinopathy, cataract (HP:0000488, HP:0000518)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 57.2 ng/mol (26 weight matched enzyme reference assay)

      CaseUrineGAGs: 0.63 DS/CS

      CaseERT: No

      CaseBMT: Yes, Cord

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1898C>A (p.S633X)

      Variant2ClinVarID: 1068474

      Variant2CAID: CA355966009

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 ClinVarID:1068474 CAID:CA355966009 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary.wiley.com/doi/10.1111/aos.13627