8 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)
    2
    1. ClingenBaseline 21 Oct 2026
      14

      Case#: Patient 14, born in 1998 (paper published in 2017), 19 months (age at first treatment)

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: Corneal clouding, cataract (HP:0007957, HP:0000518)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Retinopathy (HP:0000488)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 31.4 ng/mol (60.7 weight matched enzyme reference assay)

      CaseUrineGAGs: 0.60 DS/CS

      CaseERT: No

      CaseBMT: Yes, MUD

      Variant1: c.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.979G>C (p.A327P)

      Variant2ClinVarID: 167190

      Variant2CAID: CA234128

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 ClinVarID:167190 CAID:CA234128 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      2

      Case#: Patient 2, born in 2000 (paper published in 2017), 18 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: 28 ng/mol (38 weight matched enzyme reference assay)

      CaseUrineGAGs: 0.36 DS/CS

      CaseERT: No

      CaseBMT: Yes, MUD

      Variant1: c.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.979G>C (p.A327P)

      Variant2ClinVarID: 167190

      Variant2CAID: CA234128

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 ClinVarID:167190 CAID:CA234128 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/aos.13627
  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 21 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 29, Italy

      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.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.878_889dup

      Variant2ClinVarID: 550382

      Variant2CAID: CA2802114

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:167190 CAID:CA234128 ClinVarID:550382 CAID:CA2802114 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      missense mutations

      Case#: Patient 65, Spain

      DiseaseAssertion: MPS1-H

      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.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.1154C>G (p.P385R)

      Variant2ClinVarID: 556024

      Variant2CAID: CA355963438

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:167190 CAID:CA234128 ClinVarID:556024 CAID:CA355963438 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/21394825/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation
    1
    1. ClingenBaseline 21 Oct 2026
      patients

      Case#: Patient 8, 15-years old at the start of ERT

      DiseaseAssertion: MPS1-S - confirmed diagnosis of MPS 1 by enzymatic and mutation analysis

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: Urine GAGs are displayed in a figure and show the level at the start of ERT to 24-months later. At the start, urine GAGs appear to be between 40-45 mg/mmol creatinine. After 24-months they decreased to be ~5 mg/mmol creatinine. Normal values for >10-year olds are 1-8 mg/mmol creatinine.

      CaseERT: Yes - started at 15-years old and was given once every week

      CaseBMT: No

      Variant1: c.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.1148G>A (p.R383H)

      Variant2ClinVarID: 558189

      Variant2CAID: CA2802205

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:167190 CAID:CA234128 ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/20455661/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assessment of IDUA variants of uncertain significance identified by newborn screening
    1
    1. ClingenBaseline 21 Oct 2026
      c.979G>C

      Case#: Functional assay variant with a clinical significance of pathogenic.

      DiseaseAssertion: MPS-I

      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.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA234128 ClinVarID:167190 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  6. www.sciencedirect.com www.sciencedirect.com
    Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System
    1
    1. ClingenBaseline 21 Oct 2026
      3/f

      Case#: Patient 3, female, 18.1 months (age at diagnosis), 31 months (age at HSCT), 7 MRI + neuropsychological observations over the course of 16 years.

      DiseaseAssertion: MPS-1H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 43.5 nmol/h/mg (Normal values: 11-43 nmol/h/mg)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: Yes

      Variant1: c.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.979G>C (p.A327P)

      Variant2ClinVarID: 167190

      Variant2CAID: CA234128

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:167190 CAID:CA234128 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0022347621008945
  7. 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

      Case#: 0.2% residual activity at 37 °C

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.5 ± 0.1 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.979G>A (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.979G>A (p.A327P)

      ClinVarID: 167190

      Variant2CAID: CA234128

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:167190 CAID:CA234128 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S1096719213001820