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DeCS
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Descriptor English:
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Mucopolysaccharidosis I
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Descriptor Spanish:
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Mucopolisacaridosis I
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Descriptor Portuguese:
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Mucopolissacaridose I
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Synonyms English:
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Hurler's Syndrome
Pfaundler-Hurler Syndrome
Lipochondrodystrophy
Hurler-Scheie Syndrome
Mucopolysaccharidosis V
Scheie's Syndrome
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Tree Number:
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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
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Definition English:
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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. |
Indexing Annotation English:
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DF: MPS I
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See Related English:
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Iduronidase
Mucopolysaccharidosis II
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History Note English:
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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;
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Allowable Qualifiers English:
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Record Number:
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30379
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Unique Identifier:
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D008059
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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