Disease

Mucopolysaccharidosis II1

Gene

IDS

Inheritance XL
Current Treatments idursulfase Elaprase enzyme replacement, Bone marrow transplantation Hematopoietic Stem Cell Transplantation (HSCT)
Evidence for Treatment guideline2, 3
Non-Molecular Testing Availability yes
Non-Molecular Test iduronate 2-sulfatase (I2S) enzyme activity in white cells, fibroblasts, or plasma1
ClinGen https://actionability.clinicalgenome.org/ac/Pediatric/ui/stg2SummaryRpt?doc=AC1001
Disease Frequency (per 100,000) 0.7954
Genes Included in Disease Frequency IDS
Experimental / Investigational Therapies https://clinicaltrials.gov/ct2/results?cond=Mucopolysaccharidosis+II&term=&cntry=&state=&city=&dist=
Last Updated: March 5, 2026
RX Genes
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