Related MeSH Hierarchy (5)
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Mucopolysaccharidoses » Mucopolysaccharidosis I
Diseases [C] » Nutritional and Metabolic Diseases [C18] » Metabolic Diseases » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Mucopolysaccharidoses » Mucopolysaccharidosis I
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Carbohydrate Metabolism, Inborn Errors » Mucopolysaccharidoses » Mucopolysaccharidosis I
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Metabolism, Inborn Errors » Lysosomal Storage Diseases » Mucopolysaccharidoses » Mucopolysaccharidosis I
Diseases [C] » Skin and Connective Tissue Diseases [C17] » Connective Tissue Diseases » Mucinoses » Mucopolysaccharidoses » Mucopolysaccharidosis I
Description
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. MeSH
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Phase 4 Indicated Drugs (1)
Phase 1 Indicated Drugs (3)
Organization Involved with Phase 4 Indications (1)
Organization Involved with Phase 3 Indications (2)
Organization Involved with Phase 2 Indications (7)
Organization Involved with Phase 1 Indications (8)
Organization Involved with Other Experimental Indications (9)
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UMLS Data
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