Mucopolysaccharidosis, MPS-I-S: genes and variants
Mucopolysaccharidosis, MPS-I-S is linked to 1 analyzed protein (IDUA). 6 DNA variants are known to cause it; 16 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Mucopolysaccharidosis, MPS-I-S
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 disease-causing and 16 uncertain variants in IDUA are linked to Mucopolysaccharidosis, MPS-I-S.
Known disease-causing variants in Mucopolysaccharidosis, MPS-I-S
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IDUA E178K | 178 | Disease-causing (★★) | |
| IDUA D349Y | 349 | Disease-causing (★★) | |
| IDUA A327P | 327 | Disease-causing (★★) | |
| IDUA S423R | 423 | Disease-causing (★★) | |
| IDUA R492P | 492 | Disease-causing (★★) | |
| IDUA R89W | 89 | Disease-causing (★★) |
Same protein, different disease
- Mucopolysaccharidosis is also caused by IDUA variants; they fall mostly in different places as the Mucopolysaccharidosis, MPS-I-S variants (80 disease-causing).
- Hurler syndrome is also caused by IDUA variants; they fall mostly in different places as the Mucopolysaccharidosis, MPS-I-S variants (16 disease-causing).
Diseases related to Mucopolysaccharidosis, MPS-I-S
- 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 are linked to Mucopolysaccharidosis, MPS-I-S?
In CATVariant, Mucopolysaccharidosis, MPS-I-S is linked to 1 analyzed protein: IDUA (Alpha-L-iduronidase).
How many genetic variants are linked to Mucopolysaccharidosis, MPS-I-S?
22 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 16 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mucopolysaccharidosis, MPS-I-S look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis 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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