| Descriptor English: | Mucopolysaccharidosis I | ||||||
| Descriptor Spanish: |
Mucopolisacaridosis I
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| Descriptor Portuguese: | Mucopolissacaridose I | ||||||
| Descriptor French: | Mucopolysaccharidose de type I | ||||||
| Entry term(s): |
Disease, Hurler's Gargoylism Gargoylism, Hurler Syndrome Gargoylisms Hurler Disease Hurler Scheie Syndrome Hurler Syndrome Hurler Syndrome Gargoylism Hurler's Disease Hurler's Syndrome Hurler-Scheie Syndrome Lipochondrodystrophies Lipochondrodystrophy Mucopolysaccharidosis 1 Mucopolysaccharidosis 5 Mucopolysaccharidosis I S Mucopolysaccharidosis I-S Mucopolysaccharidosis Is Mucopolysaccharidosis Type I Mucopolysaccharidosis Type Ih Mucopolysaccharidosis Type Ih S Mucopolysaccharidosis Type Ihs Mucopolysaccharidosis Type Is Mucopolysaccharidosis V Pfaundler-Hurler Syndrome Scheie Syndrome Scheie's Syndrome Syndrome, Hurler's Syndrome, Scheie's Type Ih, Mucopolysaccharidosis Type Ihs, Mucopolysaccharidosis alpha L Iduronidase Deficiency alpha-L-Iduronidase Deficiencies alpha-L-Iduronidase Deficiency |
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| 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 |
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| RDF Unique Identifier: | https://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. |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| 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 |
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| 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; |
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| Entry Version: | MPS I |
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| Related: |
Iduronidase
MeSH Mucopolysaccharidosis II MeSH | ||||||
| DeCS ID: | 30379 | ||||||
| Unique ID: | D008059 | ||||||
| NLM Classification: | WD 205.5.C2 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1992/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2015/10/21 |
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Mucopolysaccharidosis I
- Preferred
Hurler Syndrome
- Related but not broader or narrower
Scheie Syndrome
- Narrower
alpha-L-Iduronidase Deficiency
- Related but not broader or narrower
Hurler-Scheie Syndrome
- Narrower
| Concept UI |
M0012558 |
| 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. |
| Preferred term | Mucopolysaccharidosis I |
| Entry term(s) |
Lipochondrodystrophies Lipochondrodystrophy Mucopolysaccharidosis 1 Mucopolysaccharidosis Is Mucopolysaccharidosis Type I |
| Concept UI |
M0012561 |
| Preferred term | Hurler Syndrome |
| Entry term(s) |
Disease, Hurler's Gargoylism Gargoylism, Hurler Syndrome Gargoylisms Hurler Disease Hurler Syndrome Gargoylism Hurler's Disease Hurler's Syndrome Mucopolysaccharidosis Type Ih Mucopolysaccharidosis Type Ihs Pfaundler-Hurler Syndrome Syndrome, Hurler's Type Ih, Mucopolysaccharidosis Type Ihs, Mucopolysaccharidosis |
| Concept UI |
M0012559 |
| Preferred term | Scheie Syndrome |
| Entry term(s) |
Mucopolysaccharidosis 5 Mucopolysaccharidosis I S Mucopolysaccharidosis I-S Mucopolysaccharidosis Type Is Mucopolysaccharidosis V Scheie's Syndrome Syndrome, Scheie's |
| Concept UI |
M0536513 |
| Preferred term | alpha-L-Iduronidase Deficiency |
| Entry term(s) |
alpha L Iduronidase Deficiency alpha-L-Iduronidase Deficiencies |
| Concept UI |
M0012560 |
| Preferred term | Hurler-Scheie Syndrome |
| Entry term(s) |
Hurler Scheie Syndrome Mucopolysaccharidosis Type Ih S |
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