Mucopolysaccharidosis type II
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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]
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- More Information (Found: 8 Resources)
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The National Institute of Neurological Disorders and Stroke (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Mucopolysaccharidosis type II. Click on the link to go to OMIM and review these resources.
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PubMed lists journal articles that discuss Mucopolysaccharidosis type II. Click on the link to go to PubMed and review citations to these articles.
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
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Canadian Society for Mucopolysaccharide and Related Diseases Inc. (Canadian MPS Society)
P.O. Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Canada
Telephone: 604-924-5130
Fax: 604-924-5131
Toll-Free (within Canada): 1-800-667-1846
E-mail:kirsten@mpssociety.ca
Web site: http://www.mpssociety.ca
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National MPS Society
4220 NC Hwy 55, Ste.140
Durham, NC 27713
Toll-free: 877-MPS-1001
Phone: 919-806-0101
Fax: 919-806-2055
Email: info@mpssociety.org
Web site: http://www.mpssociety.org
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Society for Mucopolysaccharide (MPS) Diseases
MPS House Repton Place White Lion Road
Amersham Buckinghamshire
United Kingdom HP7 9LP
Phone: (+44) 0845 389 9901
E-mail: mps@mpssociety.co.uk
Web site: http://www.mpssociety.co.uk
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
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ClinicalTrials.gov lists trials that are studying or have studied Mucopolysaccharidosis type II. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
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