Search
mucopolysaccharidosis 9 (hyaluronidase deficiency)
Genetics:
- associated with defects in HYAL1 gene
Clinical manifestations:
1) periarticular soft tissue masses
2) mild short stature
3) acetabular erosions
4) absence of neurological or visceral involvement
5) high hyaluronate concentration in serum
Related
hyaluronidase-1; hyal-1; hyaluronoglucosaminidase-1; lung carcinoma protein 1; LuCa-1 (HYAL1, LUCA1)
General
mucopolysaccharidosis (MPS)
Database Correlations
OMIM 601492
References
- UniProt :accession Q12794
- OMIM :accession 601492