mucopolysaccharidosis 9

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mucopolysaccharidosis 92016-11-27T09:18:55+00:00

mucopolysaccharidosis 9

METABOLISM

Definition A lysosomal storage disease (OMIM:601492) characterised by high hyaluronan concentration in serum.

Clinical findings Periarticular soft tissue masses, mild short stature and acetabular erosions, absence of neurologic or visceral involvement.

Molecular pathology Defects of HYAL1, which encodes an enzyme that degrades hyaluronan, a major extracellular matrix glycosaminoglycan involved in cell proliferation, migration and differentiation, cause mucopolysaccharidosis 9. 

Synonyms Hyaluronidase deficiency, MPS IX 

References http://www.uniprot.org/uniprot/Q12794

http://www.omim.org/entry/601492 

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