Skip navigation

Disease Mucopolysaccharidosis I

Name Mucopolysaccharidosis I
Synonyms alpha-L-Iduronidase Deficiencies | alpha L Iduronidase Deficiency | alpha-L-Iduronidase Deficiency | Disease, Hurler's | Gargoylism | Gargoylism, Hurler Syndrome | Gargoylisms | Hurler Disease | Hurler Scheie Syndrome | Hurler-Scheie Syndrome | Hurler's Disease | Hurler's Syndrome | Hurler Syndrome | Hurler Syndrome Gargoylism | Lipochondrodystrophies | Lipochondrodystrophy | MPS1-H | MPS1-HS | MPS1-S | MPS5, FORMERLY | MPS V, FORMERLY | Mucopolysaccharidosis 1 | Mucopolysaccharidosis 5 | Mucopolysaccharidosis Is | Mucopolysaccharidosis I S | Mucopolysaccharidosis I-S | Mucopolysaccharidosis Type I | Mucopolysaccharidosis Type Ih | Mucopolysaccharidosis Type Ihs | Mucopolysaccharidosis Type Ih S | MUCOPOLYSACCHARIDOSIS TYPE IH/S | Mucopolysaccharidosis Type Is | MUCOPOLYSACCHARIDOSIS TYPE V, FORMERLY | Mucopolysaccharidosis V | Pfaundler-Hurler Syndrome | Scheie's Syndrome | Scheie Syndrome | Syndrome, Hurler's | Syndrome, Scheie's | Type Ih, Mucopolysaccharidosis | Type Ihs, Mucopolysaccharidosis
Definition Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase (IDURONIDASE) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity from severe to mild: Hurler syndrome, Hurler-Scheie syndrome and Scheie syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM; hepatosplenomegaly; thick, coarse facial features with low nasal bridge; corneal clouding; cardiac complications; and noisy breathing.
Categories Connective tissue disease | Genetic disease (inborn) | Metabolic disease
MeSH® ID D008059
OMIM® IDs 607014 | 607015 | 607016
External Links

Top ↑ Ancestors

1. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis I Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis I Has associated chemicals Has associated genes
3. DiseasesSkin and Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Connective Tissue Diseases Has associated chemicals Has associated genes Has associated exposure references Mucinoses Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis I Has associated chemicals Has associated genes
4. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Carbohydrate Metabolism, Inborn Errors Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis I Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Mucopolysaccharidoses Has associated chemicals Has associated genes Mucopolysaccharidosis I Has associated chemicals Has associated genes

Top ↑ Descendants

None.