Features include always present findings: Submucous cleft hard palate, Short stature, Bifid uvula, and Knee pain and others; and common findings: Ankle pain, Hip pain, Wrist hypermobility, and Finger joint hypermobility and others.

HYAL1 encodes hyaluronidase 1 (435 aa). May have a role in promoting tumor progression. May block the TGFB1-enhanced cell growth Highest expression in Spleen (117.6 TPM) and Liver (94.4 TPM).

Mucopolysaccharidosis type 9 has been associated with mutations in the HYAL1 gene on chromosome 3.

The HYAL1 protein participates in HYAL1 V251Ffs*20, HYAL1-like proteins, and HYAL1 hydrolyses (HA)50 pathways.

HYAL1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for HYAL1 is available. Testing is considered supportive for diagnosis.

Biomarker and diagnostic research for mucopolysaccharidosis type 9 has been reported in the published literature.

Phenotype severity distribution: 12 always present features, 6 common features.

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

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

56 publications have been identified in PubMed for mucopolysaccharidosis type 9. Research spans Epidemiology / Natural History (29%), Case Report / Case Series (18%), and Diagnostic / Biomarker (13%).