KEGG   DISEASE: Mucopolysaccharidosis type IIHelp
Entry
H00129                      Disease                                

Name
Mucopolysaccharidosis type II;
Hunter syndrome
  Supergrp
Mucopolysaccharidosis [DS:H00421]
Lysosomal storage disease [DS:H01425]
Description
Mucopolysaccharidosis type II (MPS2) is an X-linked lysosomal storage disorder caused by deficient activity of iduronate-2-sulfatase in glycosaminoglycan degradation. The enzyme defect results in the accumulation of heparan sulfate and dermatan sulfate in many organs, as well as elevated metabolite levels in urine. The heterogeneity of clinical phenotypes, ranging from mild-to-severe forms, is a result of different mutations in the IDS gene. This disorder is characterized by mental retardation, coarse faces, short stature, hearing loss, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, airway obstruction, and cardiac valve disease.
Category
Inherited metabolic disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00129  Mucopolysaccharidosis type II
  Lysosomal storage diseases
   H00129  Mucopolysaccharidosis type II
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00129  Mucopolysaccharidosis type II
BRITE hierarchy
Pathway
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
Network
nt06012  Glycosaminoglycan degradation
  Element
N00614  IDS deficiency in dermatan sulfate degradation
N00622  IDS deficiency in heparan sulfate degradation
Gene
(MPS2) IDS; iduronate 2-sulfatase [HSA:3423] [KO:K01136]
Drug
Idursulfase [DR:D04499]
Other DBs
ICD-11: 5C56.31
ICD-10: E76.1
MeSH: D016532
OMIM: 309900
Reference
  Authors
Al Sawaf S, Mayatepek E, Hoffmann B
  Title
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.
  Journal
J Inherit Metab Dis 31:473-80 (2008)
DOI:10.1007/s10545-008-0878-x
Reference
  Authors
Heese BA
  Title
Current strategies in the management of lysosomal storage diseases.
  Journal
Semin Pediatr Neurol 15:119-26 (2008)
DOI:10.1016/j.spen.2008.05.005
LinkDB All DBs

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