Mucopolysaccharidosis II
Systemic lysosomal storage disease marked by progressive physical deterioration and caused by a deficiency of L-sulfoiduronate sulfatase. This disease differs from MUCOPOLYSACCHARIDOSIS I by slower progression, lack of corneal clouding, and X-linked rather than autosomal recessive inheritance. The mild form produces near-normal intelligence and life span. The severe form usually causes death by age 15.
Year introduced: 1992
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Tree Number(s): C10.597.606.360.455.750, C16.320.322.500.750, C16.320.400.525.750, C16.320.565.202.715.645, C16.320.565.595.600.645, C17.300.550.575.645, C18.452.648.202.715.645, C18.452.648.595.600.645
MeSH Unique ID: D016532
Entry Terms:
- Mucopolysaccharidosis 2
- Hunter Syndrome
- Syndrome, Hunter
- Hunter Syndrome Gargoylism
- Mucopolysaccharidosis Type 2
- Mucopolysaccharidosis Type II
- Hunter's Syndrome
- Hunters Syndrome
- Syndrome, Hunter's
- Gargoylism, Hunter Syndrome
- Sulfoiduronate Sulfatase Deficiency
- Deficiency, Sulfoiduronate Sulfatase
- Iduronate 2-Sulfatase Deficiency
- Deficiency, Iduronate 2-Sulfatase
- Iduronate 2 Sulfatase Deficiency
- I2S Deficiency
- Deficiency, I2S
- Iduronate Sulfatase Deficiency
- Deficiency, Iduronate Sulfatase
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