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GENATLAS PHENOTYPE

last update : 11-09-2009

Symbol	MPS9
Location	3p21.3
Name	mucopolysaccharidosis type IX
Other name(s)	hyaluronidase deficiency
Corresponding gene	HYAL1
Main clinical features	mild short stature, notable periarticular soft tissue masses, acetabular erosions and absence of neurological and visceral involvement, deficiency of hyaluronidase accumulation of nodular aggregates of histiocytes around and in joints may be the result of the failure of catabolism of hyaluronan by hyaluronidase
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Gene product

Name	hyaluroglucosaminidase (HYAL1)

Remark(s)