alpha-Mannosidosis

"alpha-Mannosidosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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.

Descriptor ID	D008363
MeSH Number(s)	C16.320.565.202.607.500 C16.320.565.595.577.500 C18.452.648.202.607.500 C18.452.648.595.577.500
Concept/Terms	alpha-Mannosidosis alpha-Mannosidosis alpha Mannosidosis alpha-Mannosidoses Alpha-Mannosidase B Deficiency alpha-Mannosidase Deficiency Deficiencies, alpha-Mannosidase Deficiency, alpha-Mannosidase alpha Mannosidase Deficiency alpha-Mannosidase Deficiencies Lysosomal Alpha B Mannosidosis Lysosomal alpha-D-Mannosidase Deficiency Deficiencies, Lysosomal alpha-D-Mannosidase Deficiency, Lysosomal alpha-D-Mannosidase Lysosomal alpha D Mannosidase Deficiency Lysosomal alpha-D-Mannosidase Deficiencies alpha-D-Mannosidase Deficiencies, Lysosomal alpha-D-Mannosidase Deficiency, Lysosomal Mannosidosis, alpha B Lysosomal Mannosidosis, alpha B, Lysosomal Alpha-D-Mannosidosis alpha Mannosidase B Deficiency Alpha-Mannosidosis, Type I

Below are MeSH descriptors whose meaning is more general than "alpha-Mannosidosis".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Genetic Diseases, Inborn [C16.320]
Metabolism, Inborn Errors [C16.320.565]
Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
Mannosidase Deficiency Diseases [C16.320.565.202.607]
alpha-Mannosidosis [C16.320.565.202.607.500]
Lysosomal Storage Diseases [C16.320.565.595]
Mannosidase Deficiency Diseases [C16.320.565.595.577]
alpha-Mannosidosis [C16.320.565.595.577.500]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
Metabolism, Inborn Errors [C18.452.648]
Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
Mannosidase Deficiency Diseases [C18.452.648.202.607]
alpha-Mannosidosis [C18.452.648.202.607.500]
Lysosomal Storage Diseases [C18.452.648.595]
Mannosidase Deficiency Diseases [C18.452.648.595.577]
alpha-Mannosidosis [C18.452.648.595.577.500]

Below are MeSH descriptors whose meaning is related to "alpha-Mannosidosis".

Below are MeSH descriptors whose meaning is more specific than "alpha-Mannosidosis".

publications

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