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Mucopolysaccharidosis type II


Other Names for this Disease

  • Attenuated MPS (subtype; formerly known as mild MPS II)
  • Hunter syndrome
  • I2S deficiency
  • Iduronate 2-sulfatase deficiency
  • MPS 2
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Overview

Mucopolysaccharidosis II (MPS II), also commonly known as Hunter syndrome, is a condition that occurs almost exclusively in males. Affected individuals typically have distinctive facial features, a large head, hydrocephalus, an enlarged liver and spleen, umbilical or inguinal hernia, and hearing loss. Individuals with this condition may have joint deformities and heart valve problems. MPS II is caused by mutations in the IDS gene.[1]

There are two types of MPS II, called the severe and attenuated types. While both types affect many different parts of the body, people with the severe type also experience a decline in intellectual function and a more rapid disease progression. The life expectancy for people with the severe type is 10 to 20 years. Individuals with the attenuated type typically live into adulthood and their intelligence is not affected. Heart disease and airway obstruction are major causes of death in people with both types of MPS II.[1]
Last updated: 12/29/2008

References

  1. Martin RA. Mucopolysaccharidosis Type II. Gene Reviews. November 6, 2007; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter. Accessed 12/29/2008.
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  • 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.
  • 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. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mucopolysaccharidosis type II. Click on the link to view a sample search on this topic.

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Other Names for this Disease
  • Attenuated MPS (subtype; formerly known as mild MPS II)
  • Hunter syndrome
  • I2S deficiency
  • Iduronate 2-sulfatase deficiency
  • MPS 2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.