7 Matching Annotations
  1. Oct 2026
  2. 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 26 Oct 2026
      30

      Case#: Patient 30, female, 3 years (age at presentation).

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: Consanguinity in the family present for this patient. Family had a prenatal diagnosis "CVS-unaffected"

      CasePresentingHPOs: Corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint stiffness, splenomegaly, short stature, umbilical hernia (HP:0007957, HP:0000256, HP:0000943, HP:0002240, HP:0001387, HP:0001744, HP:0004322, HP:0001537)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1861C>T (p.R621X)

      Variant1ClinVarID: 11917

      Variant1CAID: CA256118

      Variant2: c.1861C>T (p.R621X)

      Variant2ClinVarID: 11917

      Variant2CAID: CA256118

      AdditionalVariants: N/A

      ParentalGenotype: Mother and father are both carriers but does not specify for which variants.

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11917 CAID:CA256118 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
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients
    1
    1. ClingenBaseline 26 Oct 2026
      1 nonsense mutation

      Case#: One patient whose country of origin is not identifiable.

      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.1861C>T (p.R621X)

      Variant1ClinVarID: 11917

      Variant1CAID: CA256118

      Variant2: c.1205G>A (p.W402X)

      Variant2ClinVarID: 11908

      Variant2CAID: CA220498

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11917 CAID:CA256118 ClinVarID:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/7951228/
  4. 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 24 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 64, Spain

      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.1189+4A>G

      Variant1ClinVarID: N/A

      Variant1CAID: CA2586965964

      Variant2: c.1861C>T (p.R621X)

      Variant2ClinVarID: 11917

      Variant2CAID: CA256118

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA2586965964 ClinVarID:11917 CAID:CA256118 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  5. www.sciencedirect.com www.sciencedirect.com
    Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
    1
    1. ClingenBaseline 24 Oct 2026
      Scheie

      Case#: 0.9% residual activity at 37 °C

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.5 ± 0.2 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1861C>T (p.R621X)

      Variant1ClinVarID: 11917

      Variant1CAID: CA256118

      Variant2: c.974ins12 in paper but nomenclature is c.878_889dup (p.Thr293_Tyr296dup)

      ClinVarID: 550382

      Variant2CAID: CA2802114

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11917 CAID:CA256118 ClinVarID:550382 CAID:CA2802114 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S1096719213001820
  6. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 22 Oct 2026
      Abnormal

      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: Abnormal

      CaseUrineGAGs: Abnormal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1861C>T (p.R621X)

      Variant1ClinVarID: 11917

      Variant1CAID: CA256118

      Variant2: c.1861C>T (p.R621X)

      Variant2ClinVarID: 11917

      Variant2CAID: CA256118

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11917 CAID:CA256118 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347623005073
  7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    High Precision Newborn Screening for Mucopolysaccharidosis Type I by Enzymatic Activity followed by Endogenous, Non-Reducing End Glycosaminoglycan Analysis
    1
    1. ClingenBaseline 22 Oct 2026

      Case#: CA-112 ID number, Table S1.1 of Supplementary Material. Male, 2 weeks old (age at first symptoms), 7 months old (age at diagnosis). Stored frozen (-20ºC) 16 yr

      DiseaseAssertion: Severe MPS-I

      FamilyInfo: N/A

      CasePresentingHPOs: Megalocornea, recurrent ear infections, hernia (groin), corneal clouding, joint stiffness (HP:0000485, HP:0410018, HP:0100790, HP:0007957, HP:0001387)

      CaseHPOFreeText: Aortic/mitra valve regurgitation

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: 1352 fmol/punch

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1861C>T (p.R621X)

      Variant1ClinVarID: 11917

      Variant1CAID: CA256118

      Variant2: c.1163C>G (p.T388R)

      Variant2ClinVarID: 496384

      Variant2CAID: CA91169370

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11917 CAID:CA256118 ClinVarID:496384 CAID:CA91169370 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC12017804/
  8. 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 23, UK

      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.1139A>G (p.Q380R)

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      Variant2: c.1861C>T (p.R621X)

      Variant2ClinVarID: 11917

      Variant2CAID: CA256118

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550799 CAID:CA2802202 ClinVarID:11917 CAID:CA256118 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/11735025/