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Mucopolysaccharidosis I MeSH Descriptor Data 2024


MeSH Heading
Mucopolysaccharidosis I
Tree Number(s)
C16.320.565.202.715.640
C16.320.565.595.600.640
C17.300.550.575.640
C18.452.648.202.715.640
C18.452.648.595.600.640
Unique ID
D008059
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D008059
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 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.
Entry Version
MPS I
Entry Term(s)
Gargoylism
Gargoylism, Hurler Syndrome
Hurler Disease
Hurler Syndrome
Hurler's Disease
Hurler's Syndrome
Hurler-Scheie Syndrome
Lipochondrodystrophy
Mucopolysaccharidosis 1
Mucopolysaccharidosis 5
Mucopolysaccharidosis I-S
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type Ih
Mucopolysaccharidosis Type Ih S
Mucopolysaccharidosis Type Is
Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome
Scheie Syndrome
Scheie's Syndrome
alpha-L-Iduronidase Deficiency
See Also
Iduronidase
Mucopolysaccharidosis II
Public MeSH Note
1992; see LIPOCHONDRODYSTROPHY 1966-91; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, see MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 see LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE see LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME see MUCOPOLYSACCHARIDOSIS 5 1975-1991
History Note
1992; use LIPOCHONDRODYSTROPHY 1966-1991; MUCOPOLYSACCHARIDOSIS 5 was heading 1991, use MUCOPOLYSACCHARIDOSIS 1975-1990; for MUCOPOLYSACCHARIDOSIS 1 use LIPOCHONDRODYSTROPHY 1976-1991; for HURLER'S DISEASE use LIPOCHONDRODYSTROPHY 1975-1991; for SCHEIE'S SYNDROME use MUCOPOLYSACCHARIDOSIS 5 1975-1991;
Date Established
1992/01/01
Date of Entry
1999/01/01
Revision Date
2015/10/21
Mucopolysaccharidosis I Preferred
Hurler Syndrome Related
Scheie Syndrome Narrower
alpha-L-Iduronidase Deficiency Related
Hurler-Scheie Syndrome Narrower
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