Case#: NY-604 ID number, Table S1.1 of Supplementary Material. Additional health information not provided.
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 2315 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: NJ-501 ID number, Table S1.1 of Supplementary Material. Male, 1 year and 1 month (age at first symptoms), 1 year and 2 months old (age at diagnosis). Stored ambient 3 yr
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: Macrocephaly, kyphosis, coarse facial features, corneal clouding, hearing impairment, developmental delays, speech delays (HP:0000256, HP:0002808, HP:0000280, HP:0007957, HP:0000365, HP:0001263, HP:0000750)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 1147 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: CA-129 ID number, Table S1.1 of Supplementary Material. Female, 5 months old (age at first symptoms), 8 months old (age at diagnosis). Stored frozen (-20ºC) 14.8 yr.
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: Congestion, macrocephaly, pain, musculoskeletal deformities, short stature, short neck, corneal clouding (HP:0001742, HP:0000256, HP:0012531, HP:0011843, HP:0004322, HP:0000470, HP:0007957)
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 1083 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: NY-607 ID number, Table S1.1 of Supplementary Material. Additional health information not provided.
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: N/A
CaseHPOFreeText: N/A
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 2169 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: CA-117 ID number, Table S1.1 of Supplementary Material. Male, 1 year and 4 months old (age at first symptoms), 1 year and 4 months old (age at diagnosis). Stored frozen (-20ºC) 26.5 yr
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: Kyphosis, corneal clouding, joint stiffness, learning disability (HP:0002808, HP:0007957, HP:0001387, HP:0001328)
CaseHPOFreeText: Bump on spine, thick and narrowed fingers, flat nose bridge, difficulty walking
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 1861 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: CA-122 ID number, Table S1.1 of Supplementary Material. Female, 15 years old (age at first symptoms but this may be a type as the patient was diagnosed at the age of 3), 3 years old (age at diagnosis).
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: Umbilical hernia, recurrent colds, recurrent ear infections (HP:0001537, HP:0002788, HP:0410018)
CaseHPOFreeText: Joint mobility
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 1056 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
Case#: CA-115 ID number, Table S1.1 of Supplementary Material. Female, 4 months old (age at first symptoms), 9 months old (age at diagnosis). Stored frozen (-20ºC) 3.4 yr
DiseaseAssertion: Severe MPS-I
FamilyInfo: N/A
CasePresentingHPOs: Hydrocephalus, hypotonia, nasal congestion (HP:0000238, HP:0001252, HP:0001742)
CaseHPOFreeText: Big head flared out, bell shaped ribs, cardiac low ejection fraction, leaky mitral value, knocked knees
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: 767 fmol/punch
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
younger sibling
Case#: YS of sibship 3, female, 0.4 years old (age at diagnosis), 0.7 years old (age at ERT enrollment), 8.3 years (duration of ERT)
DiseaseAssertion: MPS1-HS
FamilyInfo: Affected female OS (OS of sibship 3)
CasePresentingHPOs: HP:0007957, HP:0000943, HP:0002828 (Corneal opacity, dysostosis, joint contractures)
CaseHPOFreeText: Cardiac disease, mild musculoskeletal symptoms, mild to moderate ocular disease.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: Yes - After 8 years of ERT had no restrictions in ADL, no cognitive delays, and only mild musculoskeletal symptoms and mild to moderate ocular disease and cardiac symptoms remained stable.
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
13
Case#: OS1 of sibship 6 (see Table 1), male, 9 years old (age at diagnosis), 13 years old (age at ERT enrollment), 6 years (duration of ERT)
DiseaseAssertion: MPS1-HS
FamilyInfo: Two affected siblings (OS2 and YS of sibship 6)
CasePresentingHPOs: HP:0007957, HP:0000943, HP:0002828 (Corneal opacity, dysostosis, joint contractures)
CaseHPOFreeText: Cardiac disease, musculoskeletal symptoms
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: Yes - Pulmonary function was 45–50 % of normal at T2. No restrictions in ADL.
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
older sibling
Case#: OS of sibship 9, female, 7 years old (age at diagnosis), 14 years old (age at ERT enrollment), 7 years (duration of ERT)
DiseaseAssertion: MPS1-HS
FamilyInfo: Affected YS (YS of sibship 9)
CasePresentingHPOs: HP:0007957, HP:0000943, HP:0002828 (Corneal opacity, dysostosis, joint contracture)
CaseHPOFreeText: Cardiac disease, ocular, respiratory, and musculoskeletal involvement.
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: Yes - At T2, ocular and cardiac symptoms progressed from mild to moderate/severe. In addition, pulmonary function worsened, and contractures and lower extremity weakness progressed. Had stabilization of dysostosis multiplex and no progression of motor function delays.
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
younger sibling
Case#: YS of sibship 8, male, 3.3 years old (age at diagnosis), 3.7 years old (age at ERT enrollment), 5.8 years (duration of ERT)
DiseaseAssertion: MPS1-HS
FamilyInfo: Affected OS (OS of sibship 8)
CasePresentingHPOs: HP:0007957, HP:0000943, HP:0002828 (Corneal opacity, dysostosis, joint contracture)
CaseHPOFreeText: Cardiac disease
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: Yes - Had progression of cardiac symptoms at T2, dysostosis multiplex stabilized, and remained milder. Joint contractures progressed into the moderate range.
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
11
Case#: OS2 of sibship 6 (see Table 1), male, 8 years old (age at diagnosis), 11 years old (age at ERT enrollment), 6 years (duration of ERT)
DiseaseAssertion: MPS1-HS
FamilyInfo: Two affected siblings (OS1 and YS of sibship 6)
CasePresentingHPOs: HP:0007957, HP:0000943, HP:0002828 (Corneal opacity, dysostosis, joint contractures)
CaseHPOFreeText: Cardiac disease, musculoskeletal symptoms
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: N/A
CaseUrineGAGs: N/A
CaseERT: Yes - Pulmonary function was 45–50 % of normal at T2. No restrictions in ADL.
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A
39/F
Case#: Patient 39, female, Han origin, 2 years 6 months old (age at diagnosis)
DiseaseAssertion: MPS1-H/S
FamilyInfo: N/A
CasePresentingHPOs: Macrocephaly, Joint stiffness, Mongolian macula, Hepatosplenomegaly, Hernia, Airway obstruction (HP:0000256, HP:0001387, HP:0011369, HP:0001433, HP:0100790, HP:0006536)
CaseHPOFreeText: Cardiac disease
CaseNotHPOs: Global Developmental Delay (HP:0001263)
CaseNotHPOFreeText: N/A
CaseEnzymeAssay: IDUA activity 1.5 nmol/h/mg protein. The normal range in Chinese controls was found to be 27.2–52 nmol/h/mg protein.
CaseUrineGAGs: Diagnosis was confirmed biochemically by the demonstration of an increased excretion of urinary dermatan sulfate and heparan sulfate.
CaseERT: N/A
CaseBMT: N/A
Variant1: N/A
Variant1ClinVarID: N/A
Variant1CAID: N/A
Variant2: N/A
Variant2ClinVarID: N/A
Variant2CAID: N/A
AdditionalVariants: N/A
ParentalGenotype: N/A
PreviouslyPublished N/A