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Mucopolysaccharidosis I

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I 5 coordinate concepts ∟ Mucopolysaccharidosis II \| ∟ Mucopolysaccharidosis III \| ∟ Mucopolysaccharidosis IV \| ∟ Mucopolysaccharidosis VI \| ∟ Mucopolysaccharidosis VII Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I 5 coordinate concepts ∟ Mucopolysaccharidosis II \| ∟ Mucopolysaccharidosis III \| ∟ Mucopolysaccharidosis IV \| ∟ Mucopolysaccharidosis VI \| ∟ Mucopolysaccharidosis VII Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I 5 coordinate concepts ∟ Mucopolysaccharidosis II \| ∟ Mucopolysaccharidosis III \| ∟ Mucopolysaccharidosis IV \| ∟ Mucopolysaccharidosis VI \| ∟ Mucopolysaccharidosis VII Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I 5 coordinate concepts ∟ Mucopolysaccharidosis II \| ∟ Mucopolysaccharidosis III \| ∟ Mucopolysaccharidosis IV \| ∟ Mucopolysaccharidosis VI \| ∟ Mucopolysaccharidosis VII Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Connective Tissue Diseases ∟ Mucinoses ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I 5 coordinate concepts ∟ Mucopolysaccharidosis II \| ∟ Mucopolysaccharidosis III \| ∟ Mucopolysaccharidosis IV \| ∟ Mucopolysaccharidosis VI \| ∟ Mucopolysaccharidosis VII X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Carbohydrate Metabolism, Inborn Errors ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I Medical Subject Headings (MeSH) ∟ Nutritional and Metabolic Diseases ∟ Metabolic Diseases ∟ Metabolism, Inborn Errors ∟ Lysosomal Storage Diseases ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I Medical Subject Headings (MeSH) ∟ Skin and Connective Tissue Diseases ∟ Connective Tissue Diseases ∟ Mucinoses ∟ Mucopolysaccharidoses ∟ Mucopolysaccharidosis I Mucopolysaccharidoses > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Mucopolysaccharidoses > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Mucopolysaccharidoses > Carbohydrate Metabolism, Inborn Errors > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Mucopolysaccharidoses > Lysosomal Storage Diseases > Metabolism, Inborn Errors > Metabolic Diseases > Nutritional and Metabolic Diseases > Medical Subject Headings (MeSH) Mucopolysaccharidoses > Mucinoses > Connective Tissue Diseases > Skin and Connective Tissue Diseases > Medical Subject Headings (MeSH) X
Annotation:	DF: MPS I X
historyNote*:	92; was LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, was see under MUCOPOLYSACCHARIDOSIS 1975-90; MUCOPOLYSACCHARIDOSIS 1 was see LIPOCHONDRODYSTROPHY 1976-91; HURLER'S DISEASE was see LIPOCHONDRODYSTROPHY 1975-91; SCHEIE'S SYNDROME was see MUCOPOLYSACCHARIDOSIS 5 1975-91; X
onlineNote*:	use MUCOPOLYSACCHARIDOSIS I to search LIPOCHONDRODYSTROPHY 1966-91, MUCOPOLYSACCHARIDOSIS 5 1975-91, MUCOPOLYSACCHARIDOSIS 1 1976-91, HURLER'S DISEASE & SCHEIE'S DISEASE 1975-91 X
publicMeSHNote*:	92; was LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, was see under MUCOPOLYSACCHARIDOSIS 1975-90; MUCOPOLYSACCHARIDOSIS 1 was see LIPOCHONDRODYSTROPHY 1976-91; HURLER'S DISEASE was see LIPOCHONDRODYSTROPHY 1975-91; SCHEIE'S SYNDROME was see MUCOPOLYSACCHARIDOSIS 5 1975-91 X
Scope note:	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's syndrome, Hurler-Scheie syndrome and Scheie's syndrome (formerly mucopolysaccharidosis V). Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. Hunter syndrome (MUCOPOLYSACCHARIDOSIS II) and Hurler syndrome were each originally called "gargoylism" because of the coarseness of the facial features of affected individuals. X
activeMeSHYear*:	2007X
dateCreated*:	1999-01-01X
dateRevised*:	2006-07-05X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	NLMX
Related term:	Iduronidase \| Mucopolysaccharidosis II X
Type:	Concept X
Coordinate terms:	Mucopolysaccharidosis II \| Mucopolysaccharidosis III \| Mucopolysaccharidosis IV \| Mucopolysaccharidosis VI \| Mucopolysaccharidosis VII X
URI:	X
Labels and equivalent concepts:	Mukopolysakkaridoosi I (fi) Hurler-Scheien oireyhtymä (fi, replaced) Hurler-Scheien syndrooma (fi, replaced) Mukopolysackaridos I (sv) Scheies syndrom (sv, replaced) MPS I (sv, replaced) Hurlers syndrom (sv, replaced) Hurler-Scheies syndrom (sv, replaced) Scheie's Syndrome (en, replaced) Pfaundler-Hurler Syndrome (en, replaced) Mucopolysaccharidosis V (en, replaced) Mucopolysaccharidosis IS (en, replaced) Mucopolysaccharidosis I-S (en, replaced) MPS I H (en, replaced) Lipochondrodystrophy (en, replaced) Hurler's Syndrome (en, replaced) Hurler's Disease (en, replaced) MPS I H-S (en, replaced) MPS I S (en, replaced) Mucopolysaccharidosis 5 (en, replaced) Mucopolysaccharidosis 1 (en, replaced) MPS I-S (en, replaced) Hurler Disease (en, replaced) Mucopolysaccharidosis I (la-FI, replaced) X
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