Mucopolysaccharidosistype IX (HYAL1)

Mucopolysaccharidosis type IX is a very rare autosomal recessive disorder caused by pathogenic variants in the gene HYAL1. Clinical features include short stature and joint abnormalities, including cysts and swelling. Frequent ear infections have also been reported. Life expectancy is not known, but is not likely to be significantly reduced. No genotype-phenotype correlation has been reported.









Disease Name
 GeneGuaranteed Exons 
 Inheritance Ethnicity
 Carrier Frequency
 Detection Rate
Residual Risk

Mucopolysaccharidosis, Type VI ARSB1-8 [8] (*9)ARCaucasian1 in 27355%0.00165289256198347
Mucopolysaccharidosis, Type VI ARSB1-8 [8] (*9)ARAsian1 in 42353%0.00111234705228031
Mucopolysaccharidosis, Type VI ARSB1-8 [8] (*9)ARWorldwide1 in 29130%0.00240963855421687