Mucopolysaccharidosis type II

Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among ...1

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Symptoms of Mucopolysaccharidosis type II

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Types of Mucopolysaccharidosis type II

Some types of this condition may include:2 Types of Mucopolysaccharidosis type II:

  • Mucopolysaccharidosis type 2, attenuated form
  • Mucopolysaccharidosis type 2, severe form
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Diagnosis of Mucopolysaccharidosis type II

Diagnosis: Yes, carrier testing for MPS II is available. Testing usually begins with an affected male relative, if one is available for testing, to determine the disease-causing mutation. If there is not living affected male relative, testing possible female ...3

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Genetics of Mucopolysaccharidosis type II

Genetic Changes: Mutations in the IDS gene cause MPS II. The IDS gene provides instructions for producing the I2S enzyme, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is ...4

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Names and Terminology

Other Names for This Condition

Source: GHR (NLM/NIH)5 ...

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References

  1. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ mucopolysaccharidosis-type-ii
  2. Source: NCI Thesaurus
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 6675/ mucopolysaccharidosis-type-ii
  4. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ mucopolysaccharidosis-type-ii
  5. ibid.

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Note: This site is for informational purposes only and is not medical advice. See your doctor or other qualified medical professional for all your medical needs.