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MUCOPOLYSACCHARIDOSIS IX

MUCOPOLYSACCHARIDOSIS IX
MPS9; HYALURONIDASE DEFICIENCY
601492
OMIM = Online Mendelian Inheritance of Men
67041
Hyaluronidase-1
3.2.1.35
3p21.31
E76.2
rare
autosomal recessive
mutation in the HYAL1 gene
Laboratory findings    Glycosaminoglycans, total inc (urine)
    Hyaluronan inc (urine)
Symptoms    dysmorphism
    hip dysplasia, hip dyslocation
    infections (severe or recurrent)
    joint effusions
    multiple periarticular soft-tissue masses
    onset, childhood
    scoliosis
    short stature