KEGG   DISEASE: beta-Mannosidosis
Entry
H00140                      Disease                                
Name
beta-Mannosidosis
  Supergrp
Glycoproteinoses [DS:H00422]
Lysosomal storage disease [DS:H01425]
Description
Beta-Mannosidosis (MANSB) 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
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C56  Lysosomal diseases
     H00140  beta-Mannosidosis
Pathway
hsa04142  Lysosome
hsa00511  Other glycan degradation
Gene
MANBA [HSA:4126] [KO:K01192]
Other DBs
ICD-11: 5C56.21
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
Reference
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
Reference
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
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