Mucopolysaccharidosis type 1 (Q40077): Difference between revisions
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Revision as of 05:44, 13 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | 5C56.30 |
||
| English | Mucopolysaccharidosis type 1 |
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. |
Statements
CID11:5C56.30
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dki-india-5C56.30
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Concluído
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13 August 2026
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