Mucopolysaccharidosis, MPS-III-A: genes and variants
Mucopolysaccharidosis, MPS-III-A is linked to 1 analyzed protein (IDS). 5 DNA variants are known to cause it; 4 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-III-A
IDS: Iduronate 2-sulfatase
It removes sulfate groups from iduronate-containing glycosaminoglycans during lysosomal degradation. Loss-of-function variants cause X-linked Hunter syndrome, with progressive accumulation of dermatan and heparan sulfate affecting multiple organs and, in severe disease, the nervous system.
5 disease-causing and 4 uncertain variants in IDS are linked to Mucopolysaccharidosis, MPS-III-A.
Known disease-causing variants in Mucopolysaccharidosis, MPS-III-A
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| IDS P480L | 480 | Disease-causing (★★) | |
| IDS P86L | 86 | Disease-causing (★★) | |
| IDS R468W | 468 | Disease-causing (★★) | |
| IDS A346V | 346 | Disease-causing (★★) | |
| IDS R493P | 493 | Disease-causing (★★) |
Same protein, different disease
- Mucopolysaccharidosis, MPS-II is also caused by IDS variants; they fall mostly in different places as the Mucopolysaccharidosis, MPS-III-A variants (193 disease-causing).
Diseases related to Mucopolysaccharidosis, MPS-III-A
- Mucopolysaccharidosis, MPS-II, also linked to IDS
- Mucopolysaccharidosis, also linked to IDS
Frequently asked questions
Which genes are linked to Mucopolysaccharidosis, MPS-III-A?
In CATVariant, Mucopolysaccharidosis, MPS-III-A is linked to 1 analyzed protein: IDS (Iduronate 2-sulfatase).
How many genetic variants are linked to Mucopolysaccharidosis, MPS-III-A?
9 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 4 are of uncertain significance or have conflicting reports.
Which uncertain variants in Mucopolysaccharidosis, MPS-III-A 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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