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5C56.31 Mucopolysaccharidosis type 2

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

Mucopolysaccharidosis type 2 (MPS 2) is a lysosomal storage disease belonging to the group of mucopolysaccharidoses. The clinical picture ranges from severe (the most frequent form) with early psychomotor regression, facial dysmorphism (macroglossia, constantly opened mouth, coarse features), hepatosplenomegaly, limited joint motion, carpal tunnel syndrome, dysostosis multiplex, small size, behavioural disorders and psychomotor regression leading to intellectual deficit, deafness, cardiac and respiratory disorders, and cutaneous signs, to mild (normal intelligence, milder dysmorphism and dysostoses).

inclusions

• Hunter syndrome

synonyms

• Mucopolysaccharidosis type 2
• Iduronate 2-sulfatase deficiency
• Hunter syndrome
• iduronate 2-sulphatase deficiency
• iduronate sulfatase deficiency
• iduronate sulphatase deficiency
• sulfo-iduronate sulfatase deficiency
• sulfoiduronidate sulfatase deficiency
• sulpho-iduronate sulphatase deficiency
• sulphoiduronidate sulphatase deficiency
• MPS2 - [mucopolysaccharidosis 2]
• Mucopolysaccharidosis type 2A
• Iduronate 2-sulfatase deficiency type A
• Hunter syndrome type A
• Mucopolysaccharidosis type 2, severe form
• Mucopolysaccharidosis type 2B
• Iduronate 2-sulfatase deficiency type B
• Hunter syndrome type B
• Mucopolysaccharidosis type 2, mild form
• Mucopolysaccharidosis type 2, attenuated form

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