| H00139 | |
| H number | H00139 |
| Name | alpha-Mannosidosis |
| Description | 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). |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | MAN2B1 [HSA:4125] [KO:K12311] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Velmanase alfa [DR:D11024] |
| Comment | - |
| Other DBs | ICD-11: 5C56.21 ICD-10: E77.1 MeSH: D008363 OMIM: 248500 |
| Reference | PMID:18651971 AUTHORS Malm D, Nilssen O TITLE Alpha-mannosidosis. JOURNAL Orphanet J Rare Dis 3:21 (2008) DOI:10.1186/1750-1172-3-21 PMID:11322479 AUTHORS Sun H, Wolfe JH TITLE Recent progress in lysosomal alpha-mannosidase and its deficiency. JOURNAL Exp Mol Med 33:1-7 (2001) DOI:10.1038/emm.2001.1 PMID:10571005 AUTHORS Michalski JC, Klein A TITLE Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. JOURNAL Biochim Biophys Acta 1455:69-84 (1999) DOI:10.1016/S0925-4439(99)00077-0 |