3 Matching Annotations
  1. Last 7 days
  2. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
    1
    1. ClingenBaseline 21 Oct 2026
      12

      Case#: Patient 12, female, 6 months (age at presentation).

      DiseaseAssertion: MPS1-H

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Corneal clouding, coarse facial features, dystosis multiplex, hepatomegaly, joint stiffness, intellectual disability, recurrent respiratory infections, splenomegaly, umbilical hernia (HP:0007957, HP:0000256, HP:0000943, HP:0002240, HP:0001387, HP:0010864, HP:0002205, HP:0001744, HP:0001537)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.783delC (p.His262Thrfs*55)

      Variant1ClinVarID: 956890

      Variant1CAID: CA2802083

      Variant2: c.783delC (p.His262Thrfs*55)

      Variant2ClinVarID: 956890

      Variant2CAID: CA2802083

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:956890 CAID:CA2802083 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795
  3. www-degruyterbrill-com.libproxy.lib.unc.edu www-degruyterbrill-com.libproxy.lib.unc.edu
    Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1
    1
    1. ClingenBaseline 21 Oct 2026
      PKMPS1P10

      Case#: PKMPS1P10, 4 years old (age at presentation), female, Pakastani

      DiseaseAssertion: MPS-I

      FamilyInfo: One of her elder siblings died due to MPS-I and her parents were cousins.

      CasePresentingHPOs: Coarse facial features (HP:0000256)

      CaseHPOFreeText: Poor growth potential, underweight, stunted and widening of the wrist

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.784delC (p.H262Tfs*55)

      Variant1ClinVarID: 956890

      Variant1CAID: CA2802083

      Variant2: c.784delC (p.H262Tfs*55)

      Variant2ClinVarID: 956890

      Variant2CAID: CA2802083

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:956890 CAID:CA2802083 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    www-degruyterbrill-com.libproxy.lib.unc.edu/document/doi/10.1515/jpem-2019-0188/html
  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
    1
    1. ClingenBaseline 21 Oct 2026
      Hurler disease

      Case#: Patient 50, 2 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, corneal clouding, recurrent infections, hernia (HP:0000280, HP:0001433, HP:0007957, HP:0002719, 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.238G>T (p.Val80Phe)

      Variant1ClinVarID: N/A

      Variant1CAID: CA355946451

      Variant2: c.784delC (p.His262Thrfs*55)

      Variant2ClinVarID: 956890

      Variant2CAID: CA2802083

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo CAID:CA355946451 ClinVarID:956890 CAID:CA2802083 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/