KEGG   DISEASE: Gaucher diseaseHelp
Entry
H00126                      Disease                                

Name
Gaucher disease
  Supergrp
Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Progressive myoclonic epilepsy [DS:H00810]
Description
Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.
Category
Inherited metabolic disease; Lysosomal storage disease; Nervous system disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of lipid/glycolipid metabolism
   H00126  Gaucher disease
  Lysosomal storage diseases
   H00126  Gaucher disease
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00126  Gaucher disease
BRITE hierarchy
Pathway
hsa00511  Other glycan degradation
hsa00600  Sphingolipid metabolism
hsa04142  Lysosome
Network
nt06014  Sphingolipid degradation
  Element
N00641  GBA deficiency in lactosylceramide hydrolysis
N00643  Loss of saposin stimulation
N00679  Glucosylceramide synthesis in GBA deficiency
Gene
GBA; glucosylceramidase [HSA:2629] [KO:K01201]
PSAP; prosaposin [HSA:5660] [KO:K12382]
Drug
Imiglucerase [DR:D03020]
Velaglucerase alfa [DR:D09029]
Taliglucerase alfa [DR:D09675]
Miglustat [DR:D05032]
Eliglustat tartrate [DR:D09894]
Comment
The most common mutations: N370S, L444P, 84GG, IVS2+1G>A, V394L, del55bp, D409H, R496H, and RecNciI.
Other DBs
ICD-11: 5C56.0Y
ICD-10: E75.2
MeSH: D005776
OMIM: 230800 230900 231000 231005 608013 610539
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
Reference
  Authors
Butters TD
  Title
Gaucher disease.
  Journal
Curr Opin Chem Biol 11:412-8 (2007)
DOI:10.1016/j.cbpa.2007.05.035
Reference
  Authors
Sidransky E
  Title
Gaucher disease: complexity in a "simple" disorder.
  Journal
Mol Genet Metab 83:6-15 (2004)
DOI:10.1016/j.ymgme.2004.08.015
Reference
  Authors
Wenger DA, Coppola S, Liu SL
  Title
Insights into the diagnosis and treatment of lysosomal storage diseases.
  Journal
Arch Neurol 60:322-8 (2003)
DOI:10.1001/archneur.60.3.322
Reference
PMID:23400823 (mutations)
  Authors
Ben Turkia H, Gonzalez DE, Barton NW, Zimran A, Kabra M, Lukina EA, Giraldo P, Kisinovsky I, Bavdekar A, Ben Dridi MF, Gupta N, Kishnani PS, Sureshkumar EK, Wang N, Crombez E, Bhirangi K, Mehta A
  Title
Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.
  Journal
Am J Hematol 88:179-84 (2013)
DOI:10.1002/ajh.23382
LinkDB All DBs

» Japanese version

DBGET integrated database retrieval system