H00126 | |
H number | H00126 |
Name | Gaucher disease |
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 disorder, Lysosomal disease |
Network | nt06014(H00126) Sphingolipid degradation |
Gene | (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201] (GDSAPC) PSAP [HSA:5660] [KO:K12382] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
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 | 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 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 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 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 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 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 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 |