/mucopolysaccharidosis type 6

mucopolysaccharidosis type 6

Rare Disease

MONDO:0009661

Also Known As

ARSB deficiencyASB deficiencyMPS VI - Maroteaux-Lamy syndromeMPS6MPSVIMaroteaux - Lamy syndromeMaroteaux Lamy SyndromeMaroteaux-Lamy diseaseMaroteaux-Lamy syndromeN-acetylgalactosamine 4-sulfatase deficiencyarylsulfatase B deficiencydeficiency of N-acetylgalactosamine-4-sulfatasemucopolysaccharidosis type VImucopolysaccharidosis type VI (Maroteaux-Lamy)Arsb deficiencyMPS 6MPS VIMaroteaux Lamy syndromeMucopoly-saccharidosis type VIN-acetylgalactosamine-4-sulfatase deficiencymucopolysaccharidosis VI

Definition

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.

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Associated Genes

ARSB ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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mucopolysaccharidosis type 6

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases