3 Matching Annotations
  1. Oct 2026
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutation identification of Fabry disease in families with other lysosomal storage disorders
    2
    1. ClingenBaseline 23 Oct 2026
      lysosomal deficiency

      Case#: 54 year old patient, Italy, male

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: This patient also had an affected MPS1-H/S sibling. Their mother was not only an MPS1 carrier but also had Fabry disease.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1189+5G>A

      Variant1ClinVarID: 551848

      Variant1CAID: CA658823290

      Variant2: c.46_57del (p.Ser16_Ala19del)

      Variant2ClinVarID: 92643

      Variant2CAID: CA220509

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished Yes - PMID: 21394825

      CaseInfo ClinVarID:551848 CAID:CA658823290 ClinVarID:92643 CAID:CA220509 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026
      lysosomal deficiency

      Case#: 51 year old patient, Italy, male

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: This patient also had an affected MPS1-H/S sibling. Their mother was not only an MPS1 carrier but also had Fabry disease.

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1189+5G>A

      Variant1ClinVarID: 551848

      Variant1CAID: CA658823290

      Variant2: c.46_57del (p.Ser16_Ala19del)

      Variant2ClinVarID: 92643

      Variant2CAID: CA220509

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished Yes - PMID: 21394825

      CaseInfo ClinVarID:551848 CAID:CA658823290 ClinVarID:92643 CAID:CA220509 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/23210910/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    1
    1. ClingenBaseline 21 Oct 2026
      splicing mutations

      Case#: Patient 27, Italy

      DiseaseAssertion: MPS1-H/S

      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.1189+5G>A

      Variant1ClinVarID: 551848

      Variant1CAID: CA658823290

      Variant2: c.46_57del

      Variant2ClinVarID: 92643

      Variant2CAID: CA220509

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished Yes - PMID: 23210910

      Gene:IDUA CaseInfo ClinVarID:551848 CAID:CA658823290 ClinVarID:92643 CAID:CA220509 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/21394825/