KEGG   DISEASE: beta-MannosidosisHelp
Entry
H00140                      Disease                                

Name
beta-Mannosidosis
  Supergrp
Glycoproteinoses [DS:H00422]
Lysosomal storage disease [DS:H01425]
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 disease; Lysosomal storage disease
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Congenital disorders of glycan/glycoprotein metabolism
   H00140  beta-Mannosidosis
  Lysosomal storage diseases
   H00140  beta-Mannosidosis
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
BRITE hierarchy
Pathway
hsa00511  Other glycan degradation
hsa04142  Lysosome
Gene
MANBA; lysosomal beta-mannosidase [HSA:4126] [KO:K01192]
Other DBs
ICD-11: 5C56.21
ICD-10: E77.1
MeSH: D044905
OMIM: 248510
Reference
  Authors
Winchester B
  Title
Lysosomal metabolism of glycoproteins.
  Journal
Glycobiology 15:1R-15R (2005)
DOI:10.1093/glycob/cwi041
Reference
  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
  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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