9 Matching Annotations
  1. Oct 2026
  2. journals.tubitak.gov.tr journals.tubitak.gov.tr
    Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I
    1
    1. ClingenBaseline 26 Oct 2026

      Case#: Patient 10, Turkish

      DiseaseAssertion: MPS1-H

      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.1882C>T (p.R628X)

      Variant1ClinVarID: 550421

      Variant1CAID: CA2802462

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    journals.tubitak.gov.tr/cgi/viewcontent.cgi
  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
    2
    1. ClingenBaseline 25 Oct 2026
      R628X

      Case#: Family 4, Middle East

      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.1882C>T (p.R628X)

      Variant1ClinVarID: 550421

      Variant1CAID: CA2802462

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 24 Oct 2026
      R628X

      Case#: Family 3, Middle East

      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.1882C>T (p.R628X)

      Variant1ClinVarID: 550421

      Variant1CAID: CA2802462

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/11735025/
  4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I
    1
    1. ClingenBaseline 25 Oct 2026
      4

      Case#: Patient 4 was biochemically diagnosed with MPS I because they showed an increase in urinary GAGs and a reduction in IDUA activity in leukocytes. Patient 4 was diagnosed at 2 years and 7 months.

      DiseaseAssertion: MPSI-H/S

      FamilyInfo: N/A

      CasePresentingHPOs: Coarse facies, corneal clouding, hernias, skeletal abnormalities, cardiac abnormalities, and hepatosplenomegaly (HP:0000256, HP:0007957, HP:0100790, HP:0002360, HP:0001627, HP:0001433)

      CaseHPOFreeText: N/A

      CaseNotHPOs: Intellectual disability, growth delay (HP:0001249, HP:0001510)

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: IDUA activity of 6.5 nmol/mg/protein/hr. No reference range provided.

      CaseUrineGAGs: 202.8 CPC unit/g creatinine. No reference range provided.

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.236C>T (p.A79V)

      Variant1ClinVarID: 1458769

      Variant1CAID: CA356987

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:1458769 CAID:CA356987 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC4983032/
  5. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy
    2
    1. ClingenBaseline 23 Oct 2026

      Case#: Patient 6, male, 11.5 months (age at HSCT), 8.1 months (age at ERT).

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Veno-occlusive disease (VOD), CMV reactivation

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.05 (at diagnosis), 33.8 (after HSCT) Units not provided.

      CaseUrineGAGs: N/A

      CaseERT: Yes - 112 days duration

      CaseBMT: Yes - Through a sibling with stem cells sourcing from the BM (bone marrow).

      Variant1: c.1882C>T (p.R628X)

      Variant1ClinVarID: 550421

      Variant1CAID: CA2802462

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 23 Oct 2026

      Case#: Patient 8, male, 5 months (age at HSCT), 0.9 months (age at ERT)

      DiseaseAssertion: MPS1-H

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: Veno-occlusive disease (VOD), adenovirus infection

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: 0.06 (at diagnosis), 20.1 (after HSCT) Units not provided.

      CaseUrineGAGs: N/A

      CaseERT: Yes - 124 days duration

      CaseBMT: Yes - Through a sibling with stem cells sourcing from the BM (bone marrow).

      Variant1: c.1882C>T (p.R628X)

      Variant1ClinVarID: 550421

      Variant1CAID: CA2802462

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC3436232/
  6. 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
    1
    1. ClingenBaseline 23 Oct 2026
      15/F

      Case#: 15, Female, Infancy (onset), 10 months (diagnosed), 12 years (report)

      DiseaseAssertion: Hurler-Scheie Syndrome

      FamilyInfo: Not Provided

      CasePresentingHPOs: HP:0004322, HP:0000256, HP:0001387, HP:0002240, HP:0001744, HP:0000023, HP:0000158, HP:0000280, HP:0000943, HP:0007957 (Short Stature, Macrocephaly, Joint Stiffness, Hepatomegaly (moderate), Splenomegaly (moderate), Inguinal Hernia, Large Tongue, Coarse Facial Features, Dysostosis Multiplex, Corneal Clouding)

      CaseHPOFreeText: (Mental Development (Delayed), Systolic murmur 3-4/6, After ERT: decreased illness (obstructive bronchitis), decreased organomegaly, increased mobility)

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: Decreased excretion of GAGs in the urine

      CaseERT: Had an ERT

      CaseBMT: N/A

      GenotypingMethod: Not Provided

      Variant1: p.Q70X

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: p.R628X

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: p.A8, p.A20, p.Q33H, p.L118

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA DiseaseEntity:MPS1 CaseInfo ClinVarID:11909 CAID:CA204563 CAID:CA2802462 ClinVarID:550421 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC3526155/
  7. 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 22 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.208C>T (p.Q70X)

      Variant1ClinVarID: 11909

      Variant1CAID: CA204563

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:11909 CAID:CA204563 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/19954743/
  8. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Molecular analysis of mucopolysaccharidosis type I in Tunisia: identification of novel mutation and eight Novel polymorphisms
    1
    1. ClingenBaseline 21 Oct 2026
      9

      Case#: Patient 9 (see Table 1), 5 years old - deceased (age at report), 1 year old (age at onset), female, height of 102 cm, weight of 18 kg, located at Mahdia: Touristic region.

      DiseaseAssertion: MPS1 - severe

      FamilyInfo: Parents were 1st cousins (see Table 2), aged 50 yrs (M) and 62 yrs (F).

      CasePresentingHPOs: HP:0004322, HP:0010864, HP:0001537, HP:0000687, HP:0030812, HP:0001999, HP:0007957, HP:0000943 (Short stature, severe intellectual disability, umbilical hernia, widely spaced teeth, enlarged tonsils, facial dysmorphia, corneal clouding, dysostosis multiplex)

      CaseHPOFreeText: Pigmented skin

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: IDUA activity 0.020 μKat/kg

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.1882C>T (p.R628X)

      Variant1ClinVarID: 550421

      Variant1CAID: CA2802462

      Variant2: c.1882C>T (p.R628X)

      Variant2ClinVarID: 550421

      Variant2CAID: CA2802462

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      Gene:IDUA CaseInfo DiseaseEntity:MPS1 ClinVarID:550421 CAID:CA2802462 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    URL

    pmc.ncbi.nlm.nih.gov/articles/PMC3110106/