2 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 26 Oct 2026
      16/M

      Case#: 16, Male, Infancy (onset), 2,5 years (diagnosed), 3 years (report), deceased (at 5y)

      DiseaseAssertion: Hurler Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0000256, HP:0002240, HP:0000158, HP:0000280, HP:0000943, HP:0007957 (Macrocephaly (hydrocephalus), Hepatomegaly (moderate), Large Tongue, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: (Mental Development (Delayed since infancy; developmental quotient 68 at 3y), Mild LV Hypertrophy, Frequent respiratory infections, After ERT: decreased illness (obstructive bronchitis), decreased organomegaly, increased mobility)

      CaseNotHPOs: HP:0004322, HP:0001744 (Short Stature, Splenomegaly)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: Decreased excretion of GAGs in the urine

      CaseERT: Had an ERT

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.A327P

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.1727+2T>G (splicing error)

      Variant2ClinVarID: N/A

      Variant2CAID: CA355965300

      AdditionalVariants: p.Q33H

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA234128 ClinVarID:167190 CAID:CA355965300 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 24 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.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.1727+2T>G

      Variant2ClinVarID: 4539819

      Variant2CAID: CA355965300

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      ClinVarID:167190 CAID:CA234128 ClinVarID:4539819 CAID:CA355965300 CaseInfo DiseaseEntity:MPS1 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pubmed.ncbi.nlm.nih.gov/19954743/