KEGG DISEASE: Gaucher disease

DISEASE: Gaucher disease

Entry

H00126                      Disease

Name

Gaucher disease

Subgroup

Noncerebral juvenile Gaucher disease (GD1)
Acute neuropathic Gaucher disease (GD2)
Subacute neuropathic Gaucher disease (GD3)
Perinatal lethal Gaucher disease
Atypical Gaucher disease due to saposin C deficiency (GDSAPC)

Supergrp

Sphingolipidosis [DS:H00423]
Lysosomal storage disease [DS:H01425]
Progressive myoclonic epilepsy [DS:H00810]

Description

Gaucher disease (GD) 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 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
     H00126  Gaucher disease
Pathway-based classification of diseases [BR:br08402]
Lipid/glycolipid metabolism
  nt06014  Sphingolipid degradation
   H00126  Gaucher disease
Cellular processes
  nt06551  Lysosome
   H00126  Gaucher disease
  nt06545  Cornified envelope formation
   H00126  Gaucher disease

Pathway

hsa00600

Sphingolipid metabolism

hsa04142

Lysosome

Network

nt06014 Sphingolipid degradation
nt06545 Cornified envelope formation
nt06551 Lysosome

Gene

(GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201]
(GDSAPC) PSAP [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

MeSH:

D005776

OMIM:

230800 230900 231000 231005 608013 610539

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:17644022

Authors

Butters TD

Title

Gaucher disease.

Journal

Curr Opin Chem Biol 11:412-8 (2007)
DOI:10.1016/j.cbpa.2007.05.035

Reference

PMID:15464415

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

PMID:12633142

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

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

Reference

PMID:15813845 (GBA1)

Authors

Jmoudiak M, Futerman AH

Title

Gaucher disease: pathological mechanisms and modern management.

Journal

Br J Haematol 129:178-88 (2005)
DOI:10.1111/j.1365-2141.2004.05351.x

Reference

PMID:2060627 (PSAP)

Authors

Schnabel D, Schroder M, Sandhoff K

Title

Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease.

Journal

FEBS Lett 284:57-9 (1991)
DOI:10.1016/0014-5793(91)80760-z

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   OMIM (6)   
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