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Diseases

Genetic and Rare Diseases Information Center (GARD)

Mucopolysaccharidosis type II


Other Names for this Disease
  • MPS II
  • Attenuated MPS (subtype; formerly known as mild MPS II)
  • Severe MPS II
  • Hunter syndrome
  • Iduronate 2-sulfatase deficiency
Related Diseases
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Overview

Mucopolysaccharidosis II (MPS II) is an inherited disorder of carbohydrate metabolism that occurs almost exclusively in males. It is characterized by distinctive facial features, a large head,  hydrocephalus, enlargement of the liver and spleen (hepatosplenomegaly), umbilical or inguinal hernia, and hearing loss. Individuals with this condition may additionally have joint deformities and heart abnormalities involving the valves. MPS II is caused by mutations in the IDS gene and is inherited in an X-linked manner.[1]

There is a wide range in severity of symptoms present in individuals with MPS II. Previously, MPS II was classified as severe and attenuated based on severity. More recently, the terms slowly progressive and early progressive have been suggested. 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 less severe type typically live into adulthood and intelligence is not affected. Treatment is focused on managing the signs and symptoms present in each individual.[1][2]
Last updated: 6/20/2016

References

  1. Martin RA. Mucopolysaccharidosis Type II. Gene Reviews. March 26, 2015; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=hunter.
  2. Mucopolysaccharidoses Fact Sheet. National Institute of Neurological Disorders and Stroke (NINDS). February 23, 2016; http://www.ninds.nih.gov/disorders/mucopolysaccharidoses/detail_mucopolysaccharidoses.htm.
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Basic Information

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.
Other Names for this Disease
  • MPS II
  • Attenuated MPS (subtype; formerly known as mild MPS II)
  • Severe MPS II
  • Hunter syndrome
  • Iduronate 2-sulfatase deficiency
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.