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.

Also Known As:

Hunter Syndrome; Hunter's Syndrome; Hunter Syndrome Gargoylism; I2S Deficiency; Mucopolysaccharidosis 2; Mucopolysaccharidosis Type 2; Mucopolysaccharidosis Type II; Deficiency, I2S; Deficiency, Iduronate 2-Sulfatase; Deficiency, Iduronate Sulfatase; Deficiency, Sulfoiduronate Sulfatase; Hunters Syndrome; Iduronate 2 Sulfatase Deficiency; Syndrome, Hunter; Syndrome, Hunter's; Gargoylism, Hunter Syndrome; Iduronate 2-Sulfatase Deficiency; Iduronate Sulfatase Deficiency; Sulfoiduronate Sulfatase Deficiency

Nervous System Diseases: 14737
- Neurologic Manifestations: 7223
  - Neurobehavioral Manifestations: 1632
    - Intellectual Disability: 8222
      - X-Linked Mental Retardation: 273
        Mucopolysaccharidosis II: 599
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis II: 599
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis II: 599
  - Nervous System Heredodegenerative Disorders: 62
    - X-Linked Mental Retardation: 273
      - Mucopolysaccharidosis II: 599
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 273
      - Mucopolysaccharidosis II: 599
Skin and Connective Tissue Diseases
- Connective Tissue Diseases: 3325
  - Mucinoses: 170
    - Mucopolysaccharidoses: 1646
      - Mucopolysaccharidosis II: 599
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis II: 599
    - Inborn Errors Carbohydrate Metabolism
      - Mucopolysaccharidoses: 1646
        Mucopolysaccharidosis II: 599

Elisa Pascale Selected Research

Elisa Pascale Research Topics

Disease

Drug/Important Bio-Agent (IBA)