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
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
     H00130  Mucopolysaccharidosis type III
Pathway-based classification of diseases [BR:br08402]
 Glycan/glycoprotein metabolism
  nt06012  Glycosaminoglycan degradation
   H00130  Mucopolysaccharidosis type III
Pathway
hsa00531  Glycosaminoglycan degradation
hsa04142  Lysosome
Network
nt06012 Glycosaminoglycan 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
MeSH: D009084
OMIM: 252900 252920 252930 252940
Reference
PMID:18392742
  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
PMID:16124866
  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
PMID:18708002
  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
Reference
PMID:9158154 (MPS3A)
  Authors
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ
  Title
Molecular defects in Sanfilippo syndrome type A.
  Journal
Hum Mol Genet 6:787-91 (1997)
DOI:10.1093/hmg/6.5.787
Reference
PMID:8650226 (MPS3B)
  Authors
Zhao HG, Li HH, Bach G, Schmidtchen A, Neufeld EF
  Title
The molecular basis of Sanfilippo syndrome type B.
  Journal
Proc Natl Acad Sci U S A 93:6101-5 (1996)
DOI:10.1073/pnas.93.12.6101
Reference
PMID:16960811 (MPS3C)
  Authors
Fan X, Zhang H, Zhang S, Bagshaw RD, Tropak MB, Callahan JW, Mahuran DJ
  Title
Identification of the gene encoding the enzyme deficient in mucopolysaccharidosis IIIC (Sanfilippo disease type C).
  Journal
Am J Hum Genet 79:738-44 (2006)
DOI:10.1086/508068
Reference
PMID:12573255 (MPS3D)
  Authors
Mok A, Cao H, Hegele RA
  Title
Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase.
  Journal
Genomics 81:1-5 (2003)
DOI:10.1016/S0888-7543(02)00014-9
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