Features include always present findings: Coarse facial features, Spatulate ribs, Broad clavicles, and Genu valgum and others; and common findings: Aortic valve stenosis, Long philtrum, Open bite, and Thickened aortic valve cusp and others. 25 total HPO annotations.

ARSK encodes arylsulfatase family member K (536 aa). Catalyzes the hydrolysis of pseudosubstrates such as p-nitrocatechol sulfate and p-nitrophenyl sulfate. Highest expression in Cells Cultured fibroblasts (10.0 TPM) and Nerve Tibial (7.6 TPM).

Mucopolysaccharidosis, type 10 is associated with mutations in the ARSK gene on chromosome 5.

ARSK is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for ARSK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for mucopolysaccharidosis, type 10 has been reported in the published literature.

Phenotype severity distribution: 11 always present features, 10 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for mucopolysaccharidosis, type 10.

65 publications have been identified in PubMed for mucopolysaccharidosis, type 10. Research spans Epidemiology / Natural History (25%), Case Report / Case Series (20%), and Basic Science / Preclinical (12%).