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Hurler syndrome
rareHurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
- Identifiers
- MONDO:0011758 OMIM:607014Orphanet:93473
- Causal genes
- IDUA
- Part of
- Lysosomal storage disease with skeletal involvementMucopolysaccharidosis type 1Syndromic disease
- Also known as
- Hurler disease · MPS I H · MPS1-H · MPS1H · MPSIH
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