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Genetic and Rare Diseases Information Center (GARD)

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Alpha mannosidosis type 2


Other Names for this Disease

  • Alpha-mannosidosis adult-onset form
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Overview

Alpha mannosidosis type 2 is a lysosomal storage disorder.  Signs and symptoms develop as a result of the toxic build-up of sugars (i.e., mannose-containing oligosaccharides) in the cells of the body. People with this disorder tend to develop bone abnormalities and muscle weakness by age 10. Signs and symptoms vary, but often include mild to moderate intellectual disability, hearing loss, weakened immune system, distinctive facial features, and cerebellar disorders (e.g., ataxia). Symptoms slowly worsen over time. This disorder is caused by a mutation in MAN2B1 and is inherited in an autosomal recessive fashion.[1][2]
Last updated: 10/1/2013

References

  1. Alpha-Mannosidosis. Genetics Home Reference. 2007; http://www.ghr.nlm.nih.gov/condition/alpha-mannosidosis. Accessed 10/1/2013.
  2. Malm D, Nilssen O. Alpha-Mannosidosis. GeneReview. 2001; http://www.ncbi.nlm.nih.gov/books/NBK1396/. Accessed 10/1/2013.
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Basic Information

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Alpha mannosidosis type 2. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Alpha-mannosidosis adult-onset form
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.