Mucopolysaccharidosis type VI (ARSB)
Mucopolysaccharidosis type VI, also known as Maroteaux-Lamy syndrome, is a pan-ethnic, autosomal recessive disease caused by pathogenic variants in the gene ARSB. Clinical symptoms may be severe, mild or intermediate. The severe form has an early onset and rapid progression of symptoms including skeletal abnormalities, spinal cord compression, facial dysmorphism, corneal clouding and a large liver and spleen. Intellectual disability may be a feature, and life expectancy is about 20 years of age. In the milder forms, age of onset is later in childhood or adolescence, and intelligence is not affected. Joint and skeletal abnormalities are common manifestations in this group. Several specific variants may be associated with the more severe or milder form of the disease, but not all variants are known to have a genotype-phenotype correlation.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Mucopolysaccharidosis, Type IX||HYAL1||4  (p.V35fs, p.E268K)||AR||Worldwide||< 1 in 500||75%||0.000500751126690035|