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Mucopolysaccharidosis I
MeSH HeadingMucopolysaccharidosis I
Tree NumberC16.320.565.202.715.640
Tree NumberC16.320.565.595.600.640
Tree NumberC17.300.550.575.640
Tree NumberC18.452.648.202.715.640
Tree NumberC18.452.648.595.600.640
AnnotationDF: MPS I
Scope NoteSystemic 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.
Entry TermGargoylism, Hurler Syndrome
Entry TermHurler Disease
Entry TermHurler's Disease
Entry TermHurler's Syndrome
Entry TermHurler-Scheie Syndrome
Entry TermLipochondrodystrophy
Entry TermMPS I H
Entry TermMPS I H-S
Entry TermMPS I S
Entry TermMPS I-S
Entry TermMucopolysaccharidosis 1
Entry TermMucopolysaccharidosis 5
Entry TermMucopolysaccharidosis I-S
Entry TermMucopolysaccharidosis IS
Entry TermMucopolysaccharidosis V
Entry TermPfaundler-Hurler Syndrome
Entry TermScheie Syndrome
Entry TermScheie's Syndrome
See AlsoIduronidase
See AlsoMucopolysaccharidosis II
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UR US VE VI
Entry VersionMPS I
Online Noteuse MUCOPOLYSACCHARIDOSIS I to search LIPOCHONDRODYSTROPHY 1966-91, MUCOPOLYSACCHARIDOSIS 5 1975-91, MUCOPOLYSACCHARIDOSIS 1 1976-91, HURLER'S DISEASE & SCHEIE'S DISEASE 1975-91
History Note92; 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;
Date of Entry19990101
Unique IDD008059


MeSH Tree Structures

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Metabolism, Inborn Errors [C16.320.565]
         Carbohydrate Metabolism, Inborn Errors [C16.320.565.202]
            Mucopolysaccharidoses [C16.320.565.202.715]
Mucopolysaccharidosis I [C16.320.565.202.715.640]
Mucopolysaccharidosis II [C16.320.565.202.715.645]
Mucopolysaccharidosis III [C16.320.565.202.715.650]
Mucopolysaccharidosis IV [C16.320.565.202.715.655]
Mucopolysaccharidosis VI [C16.320.565.202.715.670]
Mucopolysaccharidosis VII [C16.320.565.202.715.675]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Genetic Diseases, Inborn [C16.320]
      Metabolism, Inborn Errors [C16.320.565]
         Lysosomal Storage Diseases [C16.320.565.595]
            Mucopolysaccharidoses [C16.320.565.595.600]
Mucopolysaccharidosis I [C16.320.565.595.600.640]
Mucopolysaccharidosis II [C16.320.565.595.600.645]
Mucopolysaccharidosis III [C16.320.565.595.600.650]
Mucopolysaccharidosis IV [C16.320.565.595.600.655]
Mucopolysaccharidosis VI [C16.320.565.595.600.670]
Mucopolysaccharidosis VII [C16.320.565.595.600.675]

 
Skin and Connective Tissue Diseases [C17]
   Connective Tissue Diseases [C17.300]
      Mucinoses [C17.300.550]
         Mucopolysaccharidoses [C17.300.550.575]
Mucopolysaccharidosis I [C17.300.550.575.640]
Mucopolysaccharidosis II [C17.300.550.575.645]
Mucopolysaccharidosis III [C17.300.550.575.650]
Mucopolysaccharidosis IV [C17.300.550.575.655]
Mucopolysaccharidosis VI [C17.300.550.575.670]
Mucopolysaccharidosis VII [C17.300.550.575.675]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]
            Mucopolysaccharidoses [C18.452.648.202.715]
Mucopolysaccharidosis I [C18.452.648.202.715.640]
Mucopolysaccharidosis II [C18.452.648.202.715.645]
Mucopolysaccharidosis III [C18.452.648.202.715.650]
Mucopolysaccharidosis IV [C18.452.648.202.715.655]
Mucopolysaccharidosis VI [C18.452.648.202.715.670]
Mucopolysaccharidosis VII [C18.452.648.202.715.675]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Lysosomal Storage Diseases [C18.452.648.595]
            Mucopolysaccharidoses [C18.452.648.595.600]
Mucopolysaccharidosis I [C18.452.648.595.600.640]
Mucopolysaccharidosis II [C18.452.648.595.600.645]
Mucopolysaccharidosis III [C18.452.648.595.600.650]
Mucopolysaccharidosis IV [C18.452.648.595.600.655]
Mucopolysaccharidosis VI [C18.452.648.595.600.670]
Mucopolysaccharidosis VII [C18.452.648.595.600.675]

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