10 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
    10
    1. ClingenBaseline 26 Oct 2026
      Hurler disease

      Case#: Patient 34, 5 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, dysostosis multiplex, intellectual disability, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0000943, HP:0001249, HP:0100790)

      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.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      Hurler disease

      Case#: Patient 39, 1 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Joint contractures, dysostosis multiplex (HP:0002828, HP:0000943)

      CaseHPOFreeText: Cardiac disease

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.4% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 25 Oct 2026
      Hurler disease

      Case#: Patient 36, 6 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, intellectual disability, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0001249, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.5% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    4. ClingenBaseline 24 Oct 2026
      Hurler disease

      Case#: Patient 33, 5 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 1.8% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    5. ClingenBaseline 23 Oct 2026
      Hurler disease

      Case#: Patient 38, 3 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0100790)

      CaseHPOFreeText: Cardiac disease

      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.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    6. ClingenBaseline 23 Oct 2026
      Hurler disease

      Case#: Patient 35, 3 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0100790)

      CaseHPOFreeText: Cardiac disease

      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.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    7. ClingenBaseline 23 Oct 2026
      Hurler disease

      Case#: Patient 32, 3 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: Sibling of Patient 31

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.5% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    8. ClingenBaseline 22 Oct 2026
      Hurler disease

      Case#: Patient 31, 6 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: Sibling of Patient 32

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, hernia (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0100790)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.0% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    9. ClingenBaseline 21 Oct 2026
      Hurler disease

      Case#: Patient 37, 1 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, joint contractures, corneal clouding, dysostosis multiplex (HP:0000280, HP:0002828, HP:0007957, HP:0000943)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

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

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    10. ClingenBaseline 21 Oct 2026
      Hurler disease

      Case#: Patient 30, 8 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, recurrent infections, dysostosis multiplex, intellectual disability (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0002719, HP:0000943, HP:0001249)

      CaseHPOFreeText: Cardiac disease

      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.1373T>C (p.Leu458Pro)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355964255

      Variant2: c.1373T>C (p.Leu458Pro)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355964255

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355964255 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/