| H00140 | |
| H number | H00140 |
| Name | beta-Mannosidosis |
| Description | Beta-Mannosidosis is an autosomal recessive lysosomal storage disorder caused by deficient activity of beta-mannosidase. This disorder is characterized by mental retardation, behavioural problems, hearing loss, recurrent respiratory infections, angiokeratoma, facial dysmorphism, skeletal deformation, seizures, hypotonia, demyelinating polyneuropathy, and hepatosplenomegaly. |
| Category | Inherited metabolic disorder, Lysosomal disease |
| Network | - |
| Gene | MANBA [HSA:4126] [KO:K01192] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5C56.21 ICD-10: E77.1 MeSH: D044905 OMIM: 248510 |
| Reference | PMID:15647514 AUTHORS Winchester B TITLE Lysosomal metabolism of glycoproteins. JOURNAL Glycobiology 15:1R-15R (2005) DOI:10.1093/glycob/cwi041 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 PMID:18980795 AUTHORS Labauge P, Renard D, Castelnovo G, Sabourdy F, de Champfleur N, Levade T TITLE Beta-mannosidosis: a new cause of spinocerebellar ataxia. JOURNAL Clin Neurol Neurosurg 111:109-10 (2009) DOI:10.1016/j.clineuro.2008.09.007 |