Hurler-Scheie syndrome: genes and variants

Explore variant evidence for Hurler-Scheie syndrome across 1 analyzed protein (IDUA). Linked ClinVar records include 6 pathogenic or likely pathogenic variants, 10 variants of uncertain significance and 6 with conflicting classifications.

Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.

Data updated 2026-10-10. Automated aggregation, not a clinical review date.

Download variant evidence (CSV)

Genes linked to Hurler-Scheie syndrome

IDUA: Alpha-L-iduronidase
It removes terminal alpha-L-iduronic acid residues during lysosomal degradation of dermatan and heparan sulfate. Biallelic loss-of-function variants cause mucopolysaccharidosis type I, spanning severe Hurler syndrome to attenuated Scheie-spectrum disease.
6 ClinVar pathogenic / likely pathogenic and 16 uncertain variants in IDUA have source records linked to Hurler-Scheie syndrome. Association strength is not clinical gene validity.

ClinVar pathogenic and likely pathogenic variants linked to Hurler-Scheie syndrome

Variant	Position	Clinical label
IDUA E178K	178	Pathogenic / likely pathogenic (★★)
IDUA D349Y	349	Pathogenic / likely pathogenic (★★)
IDUA A327P	327	Pathogenic / likely pathogenic (★★)
IDUA S423R	423	Pathogenic / likely pathogenic (★★)
IDUA R492P	492	Pathogenic / likely pathogenic (★★)
IDUA R89W	89	Pathogenic / likely pathogenic (★★)

Same protein, different disease

Mucopolysaccharidosis also has ClinVar records linked to IDUA variants; they fall mostly in different places as the Hurler-Scheie syndrome variants (80 pathogenic / likely pathogenic).
Hurler syndrome also has ClinVar records linked to IDUA variants; they fall mostly in different places as the Hurler-Scheie syndrome variants (16 pathogenic / likely pathogenic).

Diseases related to Hurler-Scheie syndrome

Familial hypokalemia-hypomagnesemia, also linked to IDUA
Mucopolysaccharidosis, also linked to IDUA
Hurler syndrome, also linked to IDUA
Mucopolysaccharidosis, MPS-I-H/S, also linked to IDUA

Frequently asked questions

Which genes have records linked to Hurler-Scheie syndrome?

This view contains 1 analyzed proteins: IDUA. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.

What do the clinical classifications mean?

Linked records include 6 pathogenic or likely pathogenic variants, 10 variants of uncertain significance and 6 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.

Does the evidence score change a VUS classification?

No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.

Can I download the variant evidence?

Download the CSV for all 41 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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