10 Matching Annotations
  1. Oct 2026
  2. 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
    5
    1. ClingenBaseline 26 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 92, Turkey, patient belong to the same geographical region as patients 86, 90, and 98

      DiseaseAssertion: MPS1-H/S - S (Unsure what this phenotype means)

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.826G>A (p.E276K)

      Variant2ClinVarID: 3233261

      Variant2CAID: CA355962355

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:557942 CAID:CA355961634 ClinVarID:3233261 CAID:CA355962355 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      splicing mutations

      Case#: Patient 81, Turkey

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 25 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 90, Turkey, patient belong to the same geographical region as patients 86, 92, and 98

      DiseaseAssertion: MPS1-H

      FamilyInfo: Parents belong to the same village

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    4. ClingenBaseline 25 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 98, Turkey, patient belong to the same geographical region as patients 86, 90, and 92

      DiseaseAssertion: MPS1-H

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    5. ClingenBaseline 24 Oct 2026
      splicing mutations

      Case#: Patient 86, Turkey, patient belong to the same geographical region as patients 90, 92, and 98

      DiseaseAssertion: MPS1-H

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/21394825/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation
    1
    1. ClingenBaseline 25 Oct 2026
      patients

      Case#: Patient 1, 1-year old at the start of ERT

      DiseaseAssertion: MPS1-H - confirmed diagnosis of MPS 1 by enzymatic and mutation analysis

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: Urine GAGs are displayed in a figure and show the level at the start of ERT to 24-months later. At the start, urine GAGs appear to be slightly above 100 mg/mmol creatinine. After 24-months they decreased to be slightly below 50 mg/mmol creatinine. Normal values for >2-year olds are 8-20 mg/mmol creatinine.

      CaseERT: Yes - started at 1-year old and was given once every week

      CaseBMT: No

      Variant1: c.494-1G>A (in the paper, the variant is labeled as IVS4-1G>A)

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A (in the paper, the variant is labeled as IVS4-1G>A)

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA ClinVarID:557942 CAID:CA355961634 CaseInfo inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pubmed.ncbi.nlm.nih.gov/20455661/
  4. journals.tubitak.gov.tr journals.tubitak.gov.tr
    Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
    3
    1. ClingenBaseline 24 Oct 2026

      Case#: Patient 5, Turkish

      DiseaseAssertion: MPS1-H

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 24 Oct 2026

      Case#: Patient 4, Turkish

      DiseaseAssertion: MPS1-H

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    3. ClingenBaseline 23 Oct 2026

      Case#: Patient 3, Turkish

      DiseaseAssertion: MPS1-H

      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.494-1G>A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G>A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    journals.tubitak.gov.tr/cgi/viewcontent.cgi
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
    1
    1. ClingenBaseline 21 Oct 2026
      15

      Case#: Patient 15 (see Table 2), 38 weeks, 1 day (Gestational age)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Inguinal hernia (HP:0000023)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.23 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.494-1G > A

      Variant1ClinVarID: 557942

      Variant1CAID: CA355961634

      Variant2: c.494-1G > A

      Variant2ClinVarID: 557942

      Variant2CAID: CA355961634

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:557942 CAID:CA355961634 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/