KEGG DISEASE: Mucopolysaccharidosis type IX

DISEASE: Mucopolysaccharidosis type IX

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 disorder, Lysosomal disease

Brite

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
Pathway-based classification of diseases [BR:br08402]
Glycan/glycoprotein metabolism
  nt06012  Glycosaminoglycan degradation
   H00133  Mucopolysaccharidosis type IX

Pathway

hsa00531

Glycosaminoglycan degradation

hsa04142

Lysosome

Network

nt06012 Glycosaminoglycan degradation

Gene

(MPS9) HYAL1 [HSA:3373] [KO:K01197]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:18344557

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

PMID:10339581 (MPS9)

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

LinkDB

» Japanese version

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