1 Matching Annotations
  1. Last 7 days
  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
    1
    1. ClingenBaseline 25 Oct 2026
      Hurler disease

      Case#: Patient 5, 2 years old (age at report), male, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

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

      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.343G>T (p.Asp115Tyr)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355961128

      Variant2: c.343G>T (p.Asp115Tyr)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355961128

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355961128 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/33301762/