4 Matching Annotations
  1. Oct 2026
  2. 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 26 Oct 2026
      Hurler disease

      Case#: Patient 58, 6 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: Sibling of Patient 59

      CasePresentingHPOs: Coarse facial features, corneal clouding, dysostosis multiplex (HP:0000280, HP:0007957, HP:0000943)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.4% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1044C>G (p.Asn348Lys)

      Variant1ClinVarID: 557870

      Variant1CAID: CA2802172

      Variant2: c.1598C>G (p.Pro533Arg)

      Variant2ClinVarID: 11910

      Variant2CAID: CA256112

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:557870 CAID:CA2802172 ClinVarID:11910 CAID:CA256112 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      Hurler disease

      Case#: Patient 59, 8 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: Sibling of Patient 58

      CasePresentingHPOs: Coarse facial features, corneal clouding, dysostosis multiplex (HP:0000280, HP:0007957, HP:0000943)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.8% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1044C>G (p.Asn348Lys)

      Variant1ClinVarID: 557870

      Variant1CAID: CA2802172

      Variant2: c.1598C>G (p.Pro533Arg)

      Variant2ClinVarID: 11910

      Variant2CAID: CA256112

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:557870 CAID:CA2802172 ClinVarID:11910 CAID:CA256112 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/33301762/
  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 24 Oct 2026
      missense mutations

      Case#: Patient 12, 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.1044C>G (p.N348K)

      Variant1ClinVarID: 557870

      Variant1CAID: CA2802172

      Variant2: c.1727+5G>C

      Variant2ClinVarID: N/A

      Variant2CAID: CA2586965991

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:557870 CAID:CA2802172 CAID:CA2586965991 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. www.sciencedirect.com www.sciencedirect.com
    Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia
    1
    1. ClingenBaseline 24 Oct 2026
      2/M

      Case#: Patient 2, male, Russian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Severe intellectual disability, corneal clouding, skeletal deformities, hepatosplenomegaly (HP:0010864, HP:0007957, HP:0000924, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.4 nmol/mg/h (reference range 135 ± 57 nmol/mg/h)

      CaseUrineGAGs: 42.19 mg GAG/mmol/creatinine (reference range 6.17 ± 3.79 mg GAG/mmol creatinine)

      CaseERT: No

      CaseBMT: No

      Variant1: c.1044C>G (p.N348K)

      Variant1ClinVarID: 557870

      Variant1CAID: CA2802172

      Variant2: c.718C>G (p.H240D)

      Variant2ClinVarID: 2654540

      Variant2CAID: CA355962125

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:557870 CAID:CA2802172 ClinVarID:2654540 CAID:CA355962125 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    sciencedirect.com/science/article/pii/S0009898114002204