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beta-mannosidosis

Disease Summary
Associated Targets (1)
Tchem

1


GARD Rare
Mondo Description Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.
Uniprot Description An autosomal recessive lysosomal storage disease of glycoprotein catabolism. Clinical features are heterogeneous with a wide range of symptoms and age of onset. The disease is associated with a range of neurological involvement, including various degrees of mental retardation in most of the cases, hearing loss and speech impairment, hypotonia, epilepsy and peripheral neuropathy. Affected individuals have a profound reduction in beta A mannosidase activity in plasma, fibroblasts and leukocytes.
Disease Ontology Description A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism.
Mondo Term and Equivalent IDs
MONDO:0009562:  beta-mannosidosis
GARD:0000869: 
MESH:D044905: 
NCIT:C84596: 
Orphanet:118: 
SCTID:238047006: 
UMLS:C4048196: