2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Arthropathy-like findings and a carpal tunnel syndrome as the presenting features of Scheie syndrome: Three cases from the same family
    1
    1. ClingenBaseline 21 Oct 2026
      Three cases from the same family.

      Case#: 1 (18 y, female, symptom onset/pain+movement limitation 10y, carpal tunnel syndrome surgery 16y, diagnosis 18y)

      DiseaseAssertion: Scheie syndrome

      FamilyInfo: "female patient, brother, and male cousin born to consanguineous parents" Based on pedigree (Figure 4), the cousins are related through their mothers but the degree of consanguinity is not clear

      CasePresentingHPOs: 0034337

      CaseHPOFreeText: claw hands with flexion contractures; electroneurology showed bilateral signs of severe median nerve suffering.

      CaseNotHPOs: HP:0000280; HP:0001510; HP:0000943

      CaseNotHPOFreeText: no coarse face, growth failure, other joint involvement, evidence of dysostosis multiplex of other bones. Normal intelligence, ophthalmologic, hearing and echocardiography, brain MRI

      CaseEnzymeAssay: 0.36 (umol/g/h)

      CaseUrineGAGs:

      CaseERT: Yes, after diagnosis at 18y

      CaseBMT:

      Variant1:c.521delA

      Variant1ClinVarID:

      Variant1CAID: CA2586973518

      Variant2: 521delA

      Variant2ClinVarID:

      Variant2CAID: CA2586973518

      AdditionalVariants:

      ParentalGenotype:

      PreviouslyPublished

      Gene:IDUA HGNC:5391 PMID:30511553 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 Zygosity:Homozygous CAID: CA2586973518 inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/30511553/
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Induced Pluripotent Stem Cells to Understand Mucopolysaccharidosis. I: Demonstration of a Migration Defect in Neural Precursors
    1
    1. ClingenBaseline 21 Oct 2026
      2-year-old male MPS1-H child

      Case#: Male, 2-year old

      DiseaseAssertion: MPS1-H

      FamilyInfo: Not provided

      CasePresentingHPOs: Not provided

      CaseHPOFreeText: NA

      CaseNotHPOs: Not provided

      CaseNotHPOFreeText: NA

      CaseEnzymeAssay: MPS1-H fibroblasts exhibited no activity of IDUAα (0.01 ± 0.02 nmol/mg/min); iPSC clones were devoid of IDUAα activity

      CaseUrineGAGs: Not provided

      CaseERT: Don't know

      CaseBMT: Don't know

      Variant1: NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)

      Variant1ClinVarID:557260

      Variant1CAID:

      Variant2: NM_000203.4(IDUA):c.1205 G>A (p.Trp402Ter)

      Variant2ClinVarID:11908

      Variant2CAID:

      ParentalGenotype: Not provided

      PreviouslyPublished: Authors reference [30]: PMID: 31678774 DOI: 10.1016/j.scr.2019.101604

      Gene:IDUA HGNC:5391 Mutation:Inframe Mutation:Nonsense PMC:PMC7761689 InheritancePattern:AutosomalRecessive DiseaseEntity:MPS1 ClinVarID:557260 ClinVarID:11908 Zygosity:CompoundHeterozygous inferred_gene_hgnc:5391 inferred_gene_source:hgnc_tag IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC7761689/