KEGG   DISEASE: Mucopolysaccharidosis type III
Entry
H00130                      Disease                                

Name
Mucopolysaccharidosis type III
  Subgroup
Sanfilippo A syndrome (MPS3A)
Sanfilippo B syndrome (MPS3B)
Sanfilippo C syndrome (MPS3C)
Sanfilippo D syndrome (MPS3D)
  Supergrp
Mucopolysaccharidosis [DS:H00421]
Lysosomal storage disease [DS:H01425]
Description
Mucopolysaccharidosis type III (MPS3) is an autosomal recessive lysosomal storage disorder caused by a defect in one of the four enzyme genes involved in glycosaminoglycan degradation. The defect results in the accumulation of heparan sulfate in many organs, as well as elevated metabolite levels in urine. Common signs and symptoms include mental retardation, behavior and aggression problems, and seizures.
Category
Congenital disorder of metabolism; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00130  Mucopolysaccharidosis type III
  Lysosomal storage diseases
   H00130  Mucopolysaccharidosis type III
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00130  Mucopolysaccharidosis type III
Related
pathway
hsa04142  Lysosome
hsa00531  Glycosaminoglycan degradation
Network
nt06012  Glycosaminoglycan degradation
  Element
N00616  GNS deficiency in heparan sulfate degradation
N00618  NAGLU deficiency in heparan sulfate degradation
N00619  HGSNAT deficiency in heparan sulfate degradation
N00620  SGSH deficiency in heparan sulfate degradation
N00624  GNS deficiency in keratan sulfate degradation
Gene
(MPS3A) SGSH [HSA:6448] [KO:K01565]
(MPS3B) NAGLU [HSA:4669] [KO:K01205]
(MPS3C) HGSNAT [HSA:138050] [KO:K10532]
(MPS3D) GNS [HSA:2799] [KO:K01137]
Other DBs
ICD-11: 5C56.3Y
ICD-10: E76.2
MeSH: D009084
OMIM: 252900 252920 252930 252940
Reference
  Authors
Valstar MJ, Ruijter GJ, van Diggelen OP, Poorthuis BJ, Wijburg FA
  Title
Sanfilippo syndrome: a mini-review.
  Journal
J Inherit Metab Dis 31:240-52 (2008)
DOI:10.1007/s10545-008-0838-5
Reference
  Authors
Diez-Roux G, Ballabio A
  Title
Sulfatases and human disease.
  Journal
Annu Rev Genomics Hum Genet 6:355-79 (2005)
DOI:10.1146/annurev.genom.6.080604.162334
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
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