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Genetic and Rare Diseases Information Center (GARD)

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Sialidosis, type II


Other Names for this Disease

  • Glycoprotein neuraminidase deficiency
  • Glycoprotein neuraminidase deficiency
  • Lipomucopolysaccharidosis
  • ML1
  • Mucolipidosis type 1
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Overview

Sialidosis is a severe inherited disorder that affects many organs and tissues, including the nervous system. This disorder is divided into two types, which are distinguished by the age at which symptoms appear and the severity of features. Sialidosis type II, the more severe type of the disorder, is further divided into congenital, infantile, and juvenile forms.[1] This type of sialidosis often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment.[2] Sialidosis type II is caused by mutations in the NEU1 gene. People with sialidosis type II have mutations that severely reduce or eliminate NEU1 enzyme activity. The condition is inherited in an autosomal recessive pattern.[1]
Last updated: 11/3/2010

References

  1. Sialidosis. Genetics Home Reference (GHR). 2010; http://ghr.nlm.nih.gov/condition/sialidosis. Accessed 11/3/2010.
  2. Meikle PJ. Sialidosis. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Sialidosis. Accessed 11/3/2010.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
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  • PubMed is a searchable database of medical literature and lists journal articles that discuss Sialidosis, type II. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Glycoprotein neuraminidase deficiency
  • Glycoprotein neuraminidase deficiency
  • Lipomucopolysaccharidosis
  • ML1
  • Mucolipidosis type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.