3 Matching Annotations
  1. Last 7 days
  2. www.sciencedirect.com www.sciencedirect.com
    Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System
    1
    1. ClingenBaseline 21 Oct 2026
      6/f

      Case#: Patient 6, female, 8.3 months (age at diagnosis), 12.4 months (age at HSCT), 9.0 - 14.7 months (age at ERT), 5 MRI + neuropsychological observations over the course of 10 years.

      DiseaseAssertion: MPS-1H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 32.7 nmol/h/mg (Normal values: 11-43 nmol/h/mg)

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: Yes, transplanted with an unrelated cord blood unit.

      Variant1: c.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1487C>G (p.P496R)

      Variant2ClinVarID: 496861

      Variant2CAID: CA2802275

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:496861 CAID:CA2802275 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0022347621008945
  3. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Modeling skeletal dysplasia in Hurler syndrome using patient-derived bone marrow osteoprogenitor cells
    1
    1. ClingenBaseline 21 Oct 2026

      Case#: Pt 3, age is 18 months (proband can be found in Table 1)

      DiseaseAssertion: Hurler syndrome, mucopolysaccharidosis type IH, MPS IH, MPS type I

      FamilyInfo: No family information provided

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CaseEnzymeAssay: In methods it is stated that an IDUA activity assay was conducted on cartilaginous pellets generated from patient-derived bone marrow stromal cells at 5 weeks. However, results of the IDUA activity assays are not stated.

      CaseUrineGAGs: "Significantly higher levels of GAGs in MPS IH compared with HD pellets at.1 week of chondrogenic differentiation, thus indicating that GAG accumulation in MPS IH can be seen during cell condensation and early differentiation stages." Total GAG content for each sample in ug GAG/ug DNA shown in Figure 4 graphs.

      CaseERT: Don't know

      CaseBMT: Don't know

      Variant1: p.Q70X

      Variant1ClinVarID:

      Variant1CAID: PA3044620172

      Variant2: p.P496R

      Variant2ClinVarID: 496861

      Variant2CAID: CA2802275

      AdditionalVariants: No additional variants mentioned

      ParentalGenotype: No parental information provided

      PreviouslyPublished: No mention of previously being published

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo ClinVarID:496861 CAID:PA3044620172 CAID:CA2802275 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC10972592/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Hurler disease bone marrow stromal cells exhibit altered ability to support osteoclast formation
    1
    1. ClingenBaseline 21 Oct 2026
      MPS IH patients

      Case#: Patient 3

      DiseaseAssertion: MPS1

      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.1487C>G (p.P496R)

      Variant2ClinVarID: 496861

      Variant2CAID: CA2802275

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:496861 CAID:CA2802275 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/22280094/