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Disease alpha-Mannosidosis

Name alpha-Mannosidosis
Synonyms alpha-D-Mannosidase Deficiencies, Lysosomal | alpha-D-Mannosidase Deficiency, Lysosomal | Alpha-D-Mannosidosis | alpha Mannosidase B Deficiency | Alpha-Mannosidase B Deficiency | alpha-Mannosidase Deficiencies | alpha Mannosidase Deficiency | alpha-Mannosidase Deficiency | alpha-Mannosidoses | alpha Mannosidosis | ALPHA-MANNOSIDOSIS | Alpha-Mannosidosis, Type I | Deficiencies, alpha-Mannosidase | Deficiencies, Lysosomal alpha-D-Mannosidase | Deficiency, alpha-Mannosidase | Deficiency, Lysosomal alpha-D-Mannosidase | Lysosomal Alpha B Mannosidosis | Lysosomal alpha-D-Mannosidase Deficiencies | Lysosomal alpha D Mannosidase Deficiency | Lysosomal alpha-D-Mannosidase Deficiency | Mannosidosis, alpha B Lysosomal | Mannosidosis, alpha B, Lysosomal | MANSA
Definition An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
Categories Genetic disease (inborn) | Metabolic disease
MeSH® ID D008363
OMIM® ID 248500
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 alpha-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 alpha-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 alpha-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 alpha-Mannosidosis Has associated chemicals Has associated genes

Top ↑ Descendants

alpha-Mannosidosis Has associated chemicals Has associated genes
  Alpha-mannosidosis type 1
  Alpha-mannosidosis, type 2
  alpha-Mannosidosis, Type II