8 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
    2
    1. ClingenBaseline 25 Oct 2026
      18/M

      Case#: 18, Male, 15 years (onset), 15 years (diagnosed), 15 years (report)

      DiseaseAssertion: Scheie Syndrome

      FamilyInfo: Patients 17 and 18 are siblings

      CasePresentingHPOs: HP:0004322, HP:0001387, HP:0002240, HP:0001744, HP:0001537, HP:0000280, HP:0000943 (Short Stature, Joint Stiffness, Hepatomegaly (moderate), Splenomegaly(mild), Umbilical Hernia, Coarse Facial Features (mild), Dysostosis Multiplex)

      CaseHPOFreeText: (Mental Development (developmental quotient 93 at 15y, Verbal IQ 77; CIQ 79), Umbilical/Carpal Tunnel Syndrome)

      CaseNotHPOs: HP:0000256 (Macrocephaly)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.Q380R

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      Variant2: p.Q380R

      Variant2ClinVarID: 550799

      Variant2CAID: CA2802202

      AdditionalVariants: p.A8/A8, p.A20/A20

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA2802202 ClinVarID:550799 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 22 Oct 2026
      17/F

      Case#: 17, Female, 9 years (onset), 10 years (diagnosed), 10 years (report)

      DiseaseAssertion: Scheie Syndrome

      FamilyInfo: Patients 17 and 18 are siblings

      CasePresentingHPOs: HP:0004322, HP:0002240, HP:0001537, HP:0000280, HP:0000943, HP:0007957 (Short Stature, Hepatomegaly (moderate), Umbilical Hernia, Coarse Facial Features (mild), Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: (Mental Development (Verbal IQ 92; Performance IQ 84; CIQ 86), Mild septal hypertrophy; mitral valve dysplasia)

      CaseNotHPOs: HP:0000256, HP:0001387, HP:0001744 (Macrocephaly, Joint Stiffness, Splenomegaly)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.Q380R

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      Variant2: p.Q380R

      Variant2ClinVarID: 550799

      Variant2CAID: CA2802202

      AdditionalVariants: p.A8/A8, p.A20/A20

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo CAID:CA2802202 ClinVarID:550799 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.1139A>G (p.Q380R)

      Variant1ClinVarID: 550779

      Variant1CAID: CA2802202

      Variant2: c.1139A>G (p.Q380R)

      Variant2ClinVarID: 550779

      Variant2CAID: CA2802202

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550779 CAID:CA2802202 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/19954743/
  4. www.sciencedirect.com www.sciencedirect.com
    Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia
    1
    1. ClingenBaseline 22 Oct 2026
      5/F

      Case#: Patient 5, female, Russian

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: Severe intellectual disability, corneal clouding, skeletal deformities, hepatosplenomegaly (HP:0010864, HP:0007957, HP:0000924, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.7 nmol/mg/h (reference range 135 ± 57 nmol/mg/h)

      CaseUrineGAGs: 27.57 mg GAG/mmol/creatinine (reference range 6.17 ± 3.79 mg GAG/mmol creatinine)

      CaseERT: No

      CaseBMT: No

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

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1139A>G (p.Q380R)

      Variant2ClinVarID: 550779

      Variant2CAID: CA2802202

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:550779 CAID:CA2802202 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    sciencedirect.com/science/article/pii/S0009898114002204
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the alpha-L-iduronidase gene in Hurler-Scheie syndrome
    1
    1. ClingenBaseline 22 Oct 2026
      9

      Case#: Patient 9 (see Table 2), male, 12.7 years old (age at report), 7 years (duration of treatment), 7 surgeries

      DiseaseAssertion: MPS1-HS

      FamilyInfo: N/A

      CasePresentingHPOs:

      CaseHPOFreeText:

      CaseNotHPOs: HP:0000238, HP:0002176, HP:0002360 (Hydrocephalus, spinal cord compression, sleep abnormality)

      CaseNotHPOFreeText: Shunt placement, psychiatric problems

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: Yes

      CaseBMT: N/A

      Variant1: c.1139A>G (p.Q380R)

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      Variant2: c.208C>T (p.Q70X)

      Variant2ClinVarID: 11909

      Variant2CAID: CA204563

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550799 CAID:CA2802202 ClinVarID:11909 CAID:CA204563 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3939822/
  6. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional assessment of IDUA variants of uncertain significance identified by newborn screening
    1
    1. ClingenBaseline 21 Oct 2026
      c.1139A>G

      Case#: Functional assay variant with a clinical significance of pathogenic.

      DiseaseAssertion: MPS-I

      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.1139A>G (p.Q380R)

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      Variant2: N/A

      Variant2ClinVarID: N/A

      Variant2CAID: N/A

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CAID:CA2802202 ClinVarID:550799 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11659309/
  7. 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: Q380R

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      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:550799 CAID:CA2802202 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4954775/
  8. 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
      5 Hurler/Scheie

      Case#: Family 23, UK

      DiseaseAssertion: MPS1-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      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.1139A>G (p.Q380R)

      Variant1ClinVarID: 550799

      Variant1CAID: CA2802202

      Variant2: c.1861C>T (p.R621X)

      Variant2ClinVarID: 11917

      Variant2CAID: CA256118

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550799 CAID:CA2802202 ClinVarID:11917 CAID:CA256118 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/11735025/