Skip navigation

Disease beta-Mannosidosis

Name beta-Mannosidosis
Synonyms beta-Mannosidase Deficiencies | beta Mannosidase Deficiency | beta-Mannosidase Deficiency | beta-Mannosidoses | beta Mannosidosis | BETA-MANNOSIDOSIS | Lysosomal beta A Mannosidosis | Lysosomal beta-Mannosidase Deficiencies | Lysosomal beta Mannosidase Deficiency | Lysosomal beta-Mannosidase Deficiency | Mannosidosis, beta A, Lysosomal | MANSB
Definition An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D044905
OMIM® ID 248510
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mannosidase Deficiency Diseases Has associated chemicals Has associated genes beta-Mannosidosis Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Mannosidase Deficiency Diseases Has associated chemicals Has associated genes beta-Mannosidosis Has associated chemicals Has associated genes
3. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mannosidase Deficiency Diseases Has associated chemicals Has associated genes beta-Mannosidosis Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Mannosidase Deficiency Diseases Has associated chemicals Has associated genes beta-Mannosidosis Has associated chemicals Has associated genes

Top ↑ Descendants

None.