KEGG   DISEASE: Mucopolysaccharidosis type IXHelp
Entry
H00133                      Disease                                

Name
Mucopolysaccharidosis type IX;
Hyaluronidase deficiency
  Supergrp
Mucopolysaccharidosis [DS:H00421]
Lysosomal storage disease [DS:H01425]
Description
Mucopolysaccharidosis type IX (MPS9) is a very rare autosomal recessive lysosomal storage disorder caused by deficient activity of lysosomal hyaluronidase.
Category
Inherited metabolic disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00133  Mucopolysaccharidosis type IX
  Lysosomal storage diseases
   H00133  Mucopolysaccharidosis type IX
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00133  Mucopolysaccharidosis type IX
BRITE hierarchy
Pathway
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
Network
N00611  HYAL1 deficiency in dermatan sulfate degradation
Gene
(MPS9) HYAL1; hyaluronoglucosaminidase [HSA:3373] [KO:K01197]
Other DBs
ICD-11: 5C56.3Y
ICD-10: E76.3
MeSH: C563209
OMIM: 601492
Reference
  Authors
Martin DC, Atmuri V, Hemming RJ, Farley J, Mort JS, Byers S, Hombach-Klonisch S, Csoka AB, Stern R, Triggs-Raine BL
  Title
A mouse model of human mucopolysaccharidosis IX exhibits osteoarthritis.
  Journal
Hum Mol Genet 17:1904-15 (2008)
DOI:10.1093/hmg/ddn088
Reference
  Authors
Triggs-Raine B, Salo TJ, Zhang H, Wicklow BA, Natowicz MR
  Title
Mutations in HYAL1, a member of a tandemly distributed multigene family encoding disparate hyaluronidase activities, cause a newly described lysosomal disorder, mucopolysaccharidosis IX.
  Journal
Proc Natl Acad Sci U S A 96:6296-300 (1999)
DOI:10.1073/pnas.96.11.6296

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