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5C56.30 Mucopolysaccharidosis type 1

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

Mucopolysaccharidosis type 1 (MPS 1) is a rare lysosomal storage disease belonging to the group of mucopolysaccharidoses. There are three variants, differing widely in their severity, with Hurler syndrome (57% of cases) being the most severe, Scheie syndrome (20% of cases) the mildest and Hurler-Scheie syndrome (23% of cases) giving an intermediate phenotype.

synonyms

• Mucopolysaccharidosis type 1
• Alpha-L-iduronidase deficiency
• l-iduronidase deficiency
• Lipochondrodystrophy
• dysostosis multiplex
• dysostosis multiplex syndrome
• Gargoylism
• MPS1 - [Mucopolysaccharidosis type 1]
• Mucopolysaccharidosis type 1H
• Hurler syndrome
• Mucopolysaccharidosis type 1, severe form
• MPS1H - [Mucopolysaccharidosis type 1H]
• Mucopolysaccharidosis type 1H/S
• Hurler-Scheie syndrome
• Mucopolysaccharidosis type 1, intermediate form
• MPS1H/S - [Mucopolysaccharidosis type 1H/S]
• Mucopolysaccharidosis type 1S
• Scheie syndrome
• Mucopolysaccharidosis type 1, mild form
• MPS1S - [Mucopolysaccharidosis type 1S]

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