| H00126 | |
| H番号 | H00126 |
| 名称 | ゴーシェ病 |
| 概要 | 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. |
| カテゴリ | 先天性代謝異常症, ライソゾーム病 |
| ネットワーク | nt06014(H00126) Sphingolipid degradation |
| 病因遺伝子 | (GD1/GD2/GD3/GD3C) GBA1 [HSA:2629] [KO:K01201] (GDSAPC) PSAP [HSA:5660] [KO:K12382] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | イミグルセラーゼ [DR:D03020] ベラグルセラーゼアルファ [DR:D09029] エリグルスタット酒石酸塩 [DR:D09894] |
| コメント | The most common mutations: N370S, L444P, 84GG, IVS2+1G>A, V394L, del55bp, D409H, R496H, and RecNciI. |
| リンク | ICD-11: 5C56.0Y ICD-10: E75.2 MeSH: D005776 OMIM: 230800 230900 231000 231005 608013 610539 |
| 文献 | PMID:18708002 著者 Heese BA タイトル Current strategies in the management of lysosomal storage diseases. 雑誌 Semin Pediatr Neurol 15:119-26 (2008) DOI:10.1016/j.spen.2008.05.005 PMID:17644022 著者 Butters TD タイトル Gaucher disease. 雑誌 Curr Opin Chem Biol 11:412-8 (2007) DOI:10.1016/j.cbpa.2007.05.035 PMID:15464415 著者 Sidransky E タイトル Gaucher disease: complexity in a "simple" disorder. 雑誌 Mol Genet Metab 83:6-15 (2004) DOI:10.1016/j.ymgme.2004.08.015 PMID:12633142 著者 Wenger DA, Coppola S, Liu SL タイトル Insights into the diagnosis and treatment of lysosomal storage diseases. 雑誌 Arch Neurol 60:322-8 (2003) DOI:10.1001/archneur.60.3.322 PMID:23400823 著者 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 タイトル Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease. 雑誌 Am J Hematol 88:179-84 (2013) DOI:10.1002/ajh.23382 PMID:15813845 (GBA1) 著者 Jmoudiak M, Futerman AH タイトル Gaucher disease: pathological mechanisms and modern management. 雑誌 Br J Haematol 129:178-88 (2005) DOI:10.1111/j.1365-2141.2004.05351.x PMID:2060627 (PSAP) 著者 Schnabel D, Schroder M, Sandhoff K タイトル Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. 雑誌 FEBS Lett 284:57-9 (1991) DOI:10.1016/0014-5793(91)80760-z |