6 Matching Annotations
  1. Oct 2026
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis
    1
    1. ClingenBaseline 24 Oct 2026
      46/M

      Case#: Patient 46, male, Han origin, 9 years 6 months old (age at diagnosis)

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: Joint stiffness, Hernia (HP:0001387, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Global Developmental Delay, Macrocephaly, Mongolian macula, Hepatosplenomegaly, Airway obstruction (HP:0001263, HP:0000256, HP:0011369, HP:0001433, HP:0006536)

      CaseNotHPOFreeText: Cardiac disease

      CaseEnzymeAssay: IDUA activity 1.2 nmol/h/mg protein. The normal range in Chinese controls was found to be 27.2–52 nmol/h/mg protein.

      CaseUrineGAGs: Diagnosis was confirmed biochemically by the demonstration of an increased excretion of urinary dermatan sulfate and heparan sulfate.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.532G>A (p.E178K)

      Variant1ClinVarID: 2203495

      Variant1CAID: 355961709

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:2203495 CAID:CA355961709 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/j.1399-0004.2011.01680.x
  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
    1
    1. ClingenBaseline 23 Oct 2026
      missense mutations

      Case#: Patient 11, Italy

      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.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.532G>A (p.E178K)

      Variant2ClinVarID: 2203495

      Variant2CAID: CA355961709

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 ClinVarID:2203495 CAID:CA355961709 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
    2
    1. ClingenBaseline 22 Oct 2026
      Hurler disease

      Case#: Patient 12, 7 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, intellectual disability (HP:0000280, HP:0001433, HP:0002828, HP:0001249)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.7% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.532G>A (p.Glu178Lys)

      Variant1ClinVarID: 2203495

      Variant1CAID: CA355961709

      Variant2: c.532G>A (p.Glu178Lys)

      Variant2ClinVarID: 2203495

      Variant2CAID: CA355961709

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:2203495 CAID:CA355961709 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      Hurler disease

      Case#: Patient 13, 9 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding (HP:0000280, HP:0001433, HP:0002828, HP:0007957)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.2% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.532G>A (p.Glu178Lys)

      Variant1ClinVarID: 2203495

      Variant1CAID: CA355961709

      Variant2: c.532G>A (p.Glu178Lys)

      Variant2ClinVarID: 2203495

      Variant2CAID: CA355961709

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:2203495 CAID:CA355961709 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/
  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: E178K

      Variant1ClinVarID: 2203495

      Variant1CAID: CA355961709

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA DiseaseEntity:MPS1 SupplementalData CaseInfo ClinVarID:2203495 CAID:CA355961709 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/
  6. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Clinical and Molecular Characterization of Patients with Mucopolysaccharidosis Type I in an Algerian Series
    1
    1. ClingenBaseline 21 Oct 2026
      P11

      Case#: P11, Female, 15.5 years (diagnosed), 15.7 (report), 33 kg (weight), 142 cm (height), Algerian

      DiseaseAssertion: Scheie Syndrome

      FamilyInfo: Parents are consanguineous

      CasePresentingHPOs: HP:0001999, HP:0000943, HP:0001387, HP:0001387, HP:0000365, HP:0007957 (Facial Dysmorphic Features, Multiple Dysostosis, Joint Stiffness, Hernia(Ombelical), Deafness(mixed), Corneal Opacity)

      CaseHPOFreeText: Cardiac Manifestations (Mitral Insufficiency)

      CaseNotHPOs: HP:0001249, HP:0000238 (Mental Retardation, Hydrocephalus)

      CaseNotHPOFreeText: HM/HSM, Chronic Rhinorrhea

      CaseEnzymeAssay: IDUA Enzyme activity 5 (% to the reference range mean)

      CaseUrineGAGs: GAG quantitation 10 (fold change to the reference range mean according to age)

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Direct DNA Fragments Sequencing

      Variant1: c.532G>A (p.Glu178Lys)

      Variant1ClinVarID: 12203495

      Variant1CAID: CA355961709

      Variant2: c.532G>A (p.Glu178Lys)

      Variant2ClinVarID: 2203495

      Variant2CAID: CA355961709

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA355961709 ClinVarID:2203495 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC4881565/