4 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein
    1
    1. ClingenBaseline 25 Oct 2026
      12/F

      Case#: 12, Female, 5 months (onset), 5 years (diagnosed), 5 years (report), deceased (at 7y)

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0004322, HP:0000256, HP:0001387, HP:0002240, HP:0001744, HP:0001537, HP:0000365, HP:0000280, HP:0000943, HP:0007957 (Short Stature, Macrocephaly, Joint Stiffness, Hepatomegaly (Severe), Splenomegaly (moderate), Umbilical Hernia, Deafness (progressive), Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: Mental Development (Delayed)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.Q70X

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: p.D315Y

      Variant2ClinVarID: N/A

      Variant2CAID: CA355962740

      AdditionalVariants: p.A8, p.A20, p.Q33H, p.L118

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA204563 ClinVarID:11909 CAID:CA355962740 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3526155/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I
    1
    1. ClingenBaseline 25 Oct 2026
      10 MPS I patients

      Case#: MPS 1 patient

      DiseaseAssertion: N/A

      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.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.943G>T (p.D315Y)

      Variant2ClinVarID: 4539822

      Variant2CAID: CA355962740

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:4539822 CAID:CA355962740 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/19954743/
  4. 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 25 Oct 2026
      21

      Case#: Patient 21 (see Table 2), 41 weeks, 2 days (Gestational age)

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: Upper respiratory tract involvement

      CaseEnzymeAssay: 0.35 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.653T>C (p.L218P)

      Variant1ClinVarID: 222995

      Variant1CAID: CA356986

      Variant2: c.943G>T (p.D315Y)

      Variant2ClinVarID: N/A

      Variant2CAID: CA:355962740

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222995 CAID:CA356986 CAID:CA355962740 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/
  5. 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 22 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: D315Y

      Variant1ClinVarID:

      Variant1CAID: CA355962740

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo SupplementalData CAID:CA355962740 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/