MPS IX - Natowicz syndrome

Stable Identifier
R-HSA-2206280
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
MPS IX - Natowicz syndrome
Click the image above or here to open this pathway in the Pathway Browser
Mucopolysaccharidosis type IX (MPS IX, Natowicz syndrome, Hyaluronidase deficiency, MIM:601492) is a rare lysosomal storage disease characterized by high hyaluronan (HA) concentration in the serum resulting from deficiency in hyaluronidase 1 (HYAL1, MIM:607071) which normally hydrolyses 1-4 linkages between N-acetylglucosamine (GlcNAc) and D-glucuronate (GlcA) residues. Symptoms of MPS IX are periodically painful soft tissue masses around the joints, acquired short stature and erosion of the hip joint, although joint movement and intelligence are normal (Natowicz et al. 1996, Triggs-Raine et al. 1999).
Literature References
PubMed ID Title Journal Year
10339581 Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX

Salo, TJ, Natowicz, MR, Triggs-Raine, B, Wicklow, BA, Zhang, H

Proc. Natl. Acad. Sci. U.S.A. 1999
8793927 Clinical and biochemical manifestations of hyaluronidase deficiency

Short, MP, Gebhardt, MC, Natowicz, MR, Rosenthal, DI, Dickersin, GR, Sims, KB, Rosenberg, AE, Wang, Y

N. Engl. J. Med. 1996
Participants
Events
Participates
as an event of
Disease
Name Identifier Synonyms
mucopolysaccharidosis DOID:12798 Mucopolysaccharidosis, Mucopolysaccharidoses, Mucopolysaccharidosis (disorder), Mucopolysaccharidosis, Mucopolysaccharidosis NOS (disorder), mucopolysaccharidosis, Mucopolysaccharidosis [Ambiguous]
Authored
Jassal, B  (2012-04-26)
Reviewed
Coutinho, MF  (2012-08-27)
Alves, S  (2012-08-27)
Created
Jassal, B  (2012-04-26)
Cite Us!