| H00139 | |
| H番号 | H00139 |
| 名称 | α-マンノシドーシス |
| 概要 | Alpha-mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of alpha-mannosidase in glycoprotein catabolism. The enzymatic defect results in the accumulation of mannose-rich oligosaccharides in many organs. Alpha-mannosidosis is characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder has been described as two distinct phenotypes: a severe form with hepatomegaly and early death following severe infections (type 1) and a mild form with hearing loss and mental retardation (type 2). |
| 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 | - |
| 病因遺伝子 | MAN2B1 [HSA:4125] [KO:K12311] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5C56.21 ICD-10: E77.1 MeSH: D008363 OMIM: 248500 |
| 文献 | PMID:18651971 著者 Malm D, Nilssen O タイトル Alpha-mannosidosis. 雑誌 Orphanet J Rare Dis 3:21 (2008) DOI:10.1186/1750-1172-3-21 PMID:11322479 著者 Sun H, Wolfe JH タイトル Recent progress in lysosomal alpha-mannosidase and its deficiency. 雑誌 Exp Mol Med 33:1-7 (2001) DOI:10.1038/emm.2001.1 PMID:10571005 著者 Michalski JC, Klein A タイトル Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. 雑誌 Biochim Biophys Acta 1455:69-84 (1999) DOI:10.1016/S0925-4439(99)00077-0 |