6 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 24 Oct 2026
      Hurler disease

      Case#: Patient 3, 1 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures (HP:0000280, HP:0001433, HP:0002828)

      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.223G>A (p.Ala75Thr)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: c.223G>A (p.Ala75Thr)

      Variant2ClinVarID: 222993

      Variant2CAID: CA356994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:222993 CAID:CA356994 inferred_gene_hgnc:4878 inferred_gene_source:ClinVar IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/
  3. 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
    3
    1. ClingenBaseline 24 Oct 2026
      5

      Case#: Patient 5, male, 1 year and 6 months (age at presentation)

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Corneal clouding, coarse facial features, dysostosis multiplex, hepatomegaly, joint contractures, extensive Mongolian spots (HP:0007957, HP:0000256, HP:0000943, HP:0002240, HP:0100790, HP:0011369)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.223G>A (p.A75T)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: c.223G>A (p.A75T)

      Variant2ClinVarID: 222993

      Variant2CAID: CA356994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222993 CAID:CA356994 inferred_gene_hgnc:4878 inferred_gene_source:ClinVar IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026
      3

      Case#: Patient 3, male, 1 year (age at presentation)

      DiseaseAssertion: MPS1-H

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Corneal clouding, coarse facial features, dysostosis multiplex, hydrocephalus, intellectual disability, extensive Mongolian spots (HP:0007957, HP:0000256, HP:0000943, HP:0000238, HP:0010864, HP:0011369)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.223G>A (p.A75T)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: c.223G>a (p.A75T)

      Variant2ClinVarID: 222993

      Variant2CAID: CA356994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222993 CAID:CA356994 inferred_gene_hgnc:4878 inferred_gene_source:ClinVar IDUA variant annotation
    3. ClingenBaseline 22 Oct 2026
      4

      Case#: Patient 4, female, 2 years and 3 months (age at presentation)

      DiseaseAssertion: MPS1-H

      FamilyInfo: Consanguinity in the family present for this patient.

      CasePresentingHPOs: Coarse facial features, dysostosis multiplex, hepatomegaly, splenomegaly, intellectual disability (HP:0000256, HP:0000943, HP:0002240, HP:0001744, HP:0010864)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.223G>A (p.A75T)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: c.223G>A (p.A75T)

      Variant2ClinVarID: 222993

      Variant2CAID: CA356994

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222993 CAID:CA356994 inferred_gene_hgnc:4878 inferred_gene_source:ClinVar IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/full/10.1111/cge.12795
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Insights into Mucopolysaccharidosis I from the structure and action of α-L-Iduronidase
    1
    1. ClingenBaseline 23 Oct 2026

      Case#: Variant not associated with a proband. Variant listed in supplementary materials in Supplementary Table 4

      DiseaseAssertion: Mucopolysaccharidosis type I, MPS I

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: A75T

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA DiseaseEntity:MPS1 SupplementalData CaseInfo ClinVarID:222993 CAID:CA356994 inferred_gene_hgnc:4878 inferred_gene_source:ClinVar IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assessment of IDUA variants of uncertain significance identified by newborn screening
    1
    1. ClingenBaseline 23 Oct 2026
      c.223G>A

      Case#: Functional assay variant with a clinical significance of pathogenic.

      DiseaseAssertion: MPS-I

      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.223G>A (p.A75T)

      Variant1ClinVarID: 222993

      Variant1CAID: CA356994

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA356994 ClinVarID:222993 inferred_gene_hgnc:4878 inferred_gene_source:ClinVar IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/