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GTR Home > Conditions/Phenotypes > Mucopolysaccharidosis type 6

Mucopolysaccharidosis type 6

Synonyms
Arylsulfatase B deficiency; MPS 6; MPS VI; Maroteaux Lamy syndrome; Mucopolysaccharidosis type VI; N-acetylgalactosamine-4-sulfatase deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Mucopolysaccharidosis type VI (MPS6) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004). [from OMIM]

Available tests

75 tests are in the database for this condition.

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Clinical tests (75 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ASB, G4S, MPS6, ARSB
    Summary: arylsulfatase B

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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