Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities. Characteristic facial features can include a large head, prominent forehead ...1

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Symptoms List: Alpha-mannosidosis

Symptoms and clinical features may include:2 Clinical Features of Alpha-mannosidosis:

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Types of Alpha-mannosidosis

Some types of this condition may include:3 Types of alpha-mannosidosis:

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Genetics of Alpha-mannosidosis

Genetic Changes: Mutations in the MAN2B1 gene cause alpha-mannosidosis . This gene provides instructions for making the enzyme alpha-mannosidase. This enzyme works in the lysosomes , which are compartments that digest and recycle materials in the cell. Within lysosomes, the ...4

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Names and Terminology

Other Names for This Condition

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  1. Source: GHR (NLM/NIH): condition/ alpha-mannosidosis
  2. Source: Human Phenotype Ontology
  3. Source: NCI Thesaurus
  4. Source: GHR (NLM/NIH): condition/ alpha-mannosidosis

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