3 Matching Annotations
  1. Last 7 days
  2. 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
      30

      Case#: Patient 30 (see Table 2), 40 weeks (Gestational age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: Upper respiratory tract involvement

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.474-2A>G (new nomenclature: c.386-2A>G)

      Variant1ClinVarID: 222994

      Variant1CAID: CA356991

      Variant2: c.1148G>A (p.R383H)

      Variant2ClinVarID: 558189

      Variant2CAID: CA:2802205

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:558189 CAID:CA2802205 ClinVarID:222994 CAID:CA356991 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3710214/
  3. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations
    1
    1. ClingenBaseline 21 Oct 2026
      474-2a>g

      Case#: Family 13, UK

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: The paper states that "Hurler form is characterized by skeletal abnormalities, hepatosplenomegaly and severe mental retardation" but is not specific to this patient.

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: The α-L-iduronidase enzyme activities in leucocytes from all patients in the study was measured using the artificial substrate 4-methylumbelliferyl α-L iduronide (Sigma). Values ranged from 0 to 2.47 nmol/h/mg protein (reference range: 28–92 nmol/h/mg protein) and did not correlate to the clinical phenotype.

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.386-2A>G; c.474-2A>G in the paper

      Variant1ClinVarID: 222994

      Variant1CAID: CA356991

      Variant2: c.1855C>T (p.R619X)

      Variant2ClinVarID: 280976

      Variant2CAID: CA2802455

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:222994 CAID:CA356991 ClinVarID:280976 CAID:CA2802455 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/11735025/
  4. onlinelibrary-wiley-com.libproxy.lib.unc.edu onlinelibrary-wiley-com.libproxy.lib.unc.edu
    The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler)
    1
    1. ClingenBaseline 21 Oct 2026
      7

      Case#: Patient 7, born in 2005 (paper published in 2017), 16 months (age at first treatment)

      DiseaseAssertion: MPSI-H

      FamilyInfo: N/A

      CasePresentingHPOs: Corneal clouding (HP:0007957)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Retinopathy, cataract (HP:0000488, HP:0000518)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 62.57 ng/mol (34.3 weight matched enzyme reference assay)

      CaseUrineGAGs: 0.59 DS/CS

      CaseERT: No

      CaseBMT: Yes, Cord

      Variant1: c.1205G>A (p.W402X)

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      Variant2: c.386-2A>G

      Variant2ClinVarID: 222994

      Variant2CAID: CA356991

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11908 CAID:CA220498 CAID:CA356991 ClinVarID:222994 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    onlinelibrary-wiley-com.libproxy.lib.unc.edu/doi/10.1111/aos.13627