Concept information
...
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mannosidase Deficiency Diseases
...
Metabolic Diseases
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
Mannosidase Deficiency Diseases
Preferred term
alpha-Mannosidosis
Type
-
mesh:Descriptor
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.
Broader concept
Entry terms
- Alpha-D-Mannosidosis
- alpha Mannosidase B Deficiency
- Alpha-Mannosidase B Deficiency
- alpha-Mannosidase Deficiency
- Alpha-Mannosidosis, Type I
- Lysosomal Alpha B Mannosidosis
- Lysosomal alpha-D-Mannosidase Deficiency
- Mannosidosis, alpha B Lysosomal
- Mannosidosis, alpha B, Lysosomal
Allowable Qualifier(s)
- blood (Qualifier)
- cerebrospinal fluid (Qualifier)
- chemically induced (Qualifier)
- classification (Qualifier)
- complications (Qualifier)
- diagnosis (Qualifier)
- diagnostic imaging (Qualifier)
- diet therapy (Qualifier)
- drug therapy (Qualifier)
- economics (Qualifier)
- embryology (Qualifier)
- enzymology (Qualifier)
- epidemiology (Qualifier)
- ethnology (Qualifier)
- etiology (Qualifier)
- genetics (Qualifier)
- history (Qualifier)
- immunology (Qualifier)
- metabolism (Qualifier)
- microbiology (Qualifier)
- mortality (Qualifier)
- nursing (Qualifier)
- parasitology (Qualifier)
- pathology (Qualifier)
- physiopathology (Qualifier)
- prevention & control (Qualifier)
- psychology (Qualifier)
- radiotherapy (Qualifier)
- rehabilitation (Qualifier)
- surgery (Qualifier)
- therapy (Qualifier)
- urine (Qualifier)
- veterinary (Qualifier)
- virology (Qualifier)
In other languages
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French
-
Déficit en alpha-D-mannosidase lysosomale
-
Déficit en alpha-D-mannosidase lysosomiale
-
Déficit en alpha-Mannosidase
-
Mannosidose alpha B lysosomale
-
Mannosidose alpha B lysosomiale
URI
http://data.loterre.fr/ark:/67375/JVR-K85SRC1R-6
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