13 Matching Annotations
  1. Oct 2026
  2. www.sciencedirect.com www.sciencedirect.com
    Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
    2
    1. ClingenBaseline 26 Oct 2026
      Scheie

      Case#: 0.3% residual activity at 37 °C

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.8 ± 0.1 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

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

      ClinVarID: 558189

      Variant2CAID: CA2802205

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:167190 CAID:CA234128 ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      Scheie

      Case#: 0.7% residual activity at 37 °C

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 1.9 ± 0.7 nmol/mg/h IDUA activity at 37 °C

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1148G>A (p.R383H)

      Variant1ClinVarID: 558189

      Variant1CAID: CA2802205

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

      ClinVarID: 558189

      Variant2CAID: CA2802205

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    sciencedirect.com/science/article/pii/S1096719213001820
  3. 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
    7
    1. ClingenBaseline 26 Oct 2026
      263

      Case#: Patient 26 (see Table 2), 40 weeks (Gestational age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: Sibling of Patient 25 (see Table 2)

      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.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:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 25 Oct 2026
      294

      Case#: Patient 29 (see Table 2), 40 weeks, 5 days (Gestational age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: Sibling of Patient 28 (see Table 2)

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: Inguinal hernia (HP:0000023)

      CaseNotHPOFreeText: Upper respiratory tract involvement

      CaseEnzymeAssay: 1.61 nmol x mg-1 × hr-1

      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
    3. ClingenBaseline 25 Oct 2026
      284

      Case#: Patient 28 (see Table 2), 40 weeks, 5 days (Gestational age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: Sibling of Patient 29 (see Table 2)

      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
    4. ClingenBaseline 24 Oct 2026
      253

      Case#: Patient 23 (see Table 2), 40 weeks (Gestational age)

      DiseaseAssertion: MPS1-S

      FamilyInfo: Sibling of Patient 26 (see Table 2)

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 1.17 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

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

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      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:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    5. ClingenBaseline 23 Oct 2026
      27

      Case#: Patient 27 (see Table 2), Gestational age unavailable

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 1.70 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA:234128

      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:167190 CAID:CA2802098 ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    6. ClingenBaseline 22 Oct 2026
      24

      Case#: Patient 24 (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: 1.05 nmol x mg-1 × hr-1

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

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

      Variant1ClinVarID: 11908

      Variant1CAID: CA220498

      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:11908 CAID:CA220498 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    7. 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/
  4. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
    1
    1. ClingenBaseline 26 Oct 2026
      Hurler disease

      Case#: Patient 25, 28 years old (age at report), female, Indian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facial features, hepatosplenomegaly, joint contractures, corneal clouding, dysostosis multiplex (HP:0000280, HP:0001433, HP:0002828, HP:0007957, HP:0000943)

      CaseHPOFreeText: Cardiac disease

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 2.5% (Range of residual enzyme activity: 0.0%-4.8%)

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1148G>A (p.Arg388His)

      Variant1ClinVarID: 558189

      Variant1CAID: CA2802205

      Variant2: c.1148G>A (p.Arg388His)

      Variant2ClinVarID: 558189

      Variant2CAID: CA2802205

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/33301762/
  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 21 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: R383H

      Variant1ClinVarID: 558189

      Variant1CAID: CA2802205

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished: N/A

      Gene:IDUA DiseaseEntity:MPS1 SupplementalData CaseInfo ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/
  6. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    Ultrastructural analysis of dermal fibroblasts in mucopolysaccharidosis type I: Effects of enzyme replacement therapy and hematopoietic cell transplantation
    1
    1. ClingenBaseline 21 Oct 2026
      patients

      Case#: Patient 8, 15-years old at the start of ERT

      DiseaseAssertion: MPS1-S - confirmed diagnosis of MPS 1 by enzymatic and mutation analysis

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: Urine GAGs are displayed in a figure and show the level at the start of ERT to 24-months later. At the start, urine GAGs appear to be between 40-45 mg/mmol creatinine. After 24-months they decreased to be ~5 mg/mmol creatinine. Normal values for >10-year olds are 1-8 mg/mmol creatinine.

      CaseERT: Yes - started at 15-years old and was given once every week

      CaseBMT: No

      Variant1: c.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

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

      Variant2ClinVarID: 558189

      Variant2CAID: CA2802205

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo ClinVarID:167190 CAID:CA234128 ClinVarID:558189 CAID:CA2802205 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/20455661/
  7. www.sciencedirect.com www.sciencedirect.com
    First Three Years’ Experience of Mucopolysaccharidosis Type-I Newborn Screening in California
    1
    1. ClingenBaseline 21 Oct 2026
      Abnormal

      Case#: No additional case information provided.

      DiseaseAssertion: Not specified

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: Abnormal

      CaseUrineGAGs: Normal

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1148G>A (p.R383H)

      Variant1ClinVarID: 558189

      Variant1CAID: CA2802205

      Variant2: c.112C>A (p.R89S)

      Variant2ClinVarID: 2432781

      Variant2CAID: CA355945526

      AdditionalVariants: c.250G>A (p.G48S), ClinVarID:726495, CAID:CA2801152

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:558189 CAID:CA2802205 ClinVarID:2432781 CAID:CA355945526 ClinVarID:726495 CAID:CA2801152 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    sciencedirect.com/science/article/pii/S0022347623005073