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
    3
    1. ClingenBaseline 25 Oct 2026
      Hurler disease

      Case#: Patient 16, 2 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: 3.3% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.568_581del (p.Asn190Hisfs*204)

      Variant1ClinVarID: 3639714

      Variant1CAID: CA2801994

      Variant2: c.568_581del (p.Asn190Hisfs*204)

      Variant2ClinVarID: 3639714

      Variant2CAID: CA2801994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:3639714 CAID:CA2801994 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026
      Hurler disease

      Case#: Patient 15, 5 months old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, recurrent infections (HP:0000280, HP:0001433, HP:0002719)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 3.3% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.568_581del (p.Asn190Hisfs*204)

      Variant1ClinVarID: 3639714

      Variant1CAID: CA2801994

      Variant2: c.568_581del (p.Asn190Hisfs*204)

      Variant2ClinVarID: 3639714

      Variant2CAID: CA2801994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:3639714 CAID:CA2801994 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 22 Oct 2026
      Hurler disease

      Case#: Patient 54, 8 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

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

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.3% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.568_581del (p.Asn190His)

      Variant1ClinVarID: 3639714

      Variant1CAID: CA2801994

      Variant2: c.1469T>C (p.Leu490Pro)

      Variant2ClinVarID: 11919

      Variant2CAID: CA220503

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:3639714 CAID:CA2801994 ClinVarID:11919 CAID:CA220503 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/33301762/
  3. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 24 Oct 2026
      Abnormal

      Case#: No additional case information provided

      DiseaseAssertion: MPS-IH

      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.568_581del14 (p.N190HfsTer?)

      Variant1ClinVarID: 3639714

      Variant1CAID: CA2801994

      Variant2: c.568_581del14 (p.N190HfsTer?)

      Variant2ClinVarID: 3639714

      Variant2CAID: CA2801994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:3639714 CAID:CA2801994 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

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    URL

    sciencedirect.com/science/article/pii/S0022347623005073