MeSH Browser

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: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders.
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: 2024/08/09
Revision Date: 2024/07/12

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

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]

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]

Mucopolysaccharidosis I Preferred

Concept UI: M0012558
Scope Note: A group of autosomal recessive lysosomal storage disorders caused by mutations in the gene encoding the enzyme, alpha-L-iduronidase (IDUA), required for the degradation of heparan and dermatan sulfates. This leads to abnormal accumulation of these glycosaminoglycans in various tissues causing a wide range of clinical presentations including cognitive and musculoskeletal disorders.
Terms: Mucopolysaccharidosis I Preferred Term
Term UI T024015
Date01/01/1999
LexicalTag NON
ThesaurusID; Lipochondrodystrophy
Term UI T024014
Date09/10/1990
LexicalTag NON
ThesaurusID NLM (1992); Mucopolysaccharidosis 1
Term UI T024016
Date09/11/1990
LexicalTag NON
ThesaurusID NLM (1992); Mucopolysaccharidosis Type I
Term UI T843328
Date04/29/2013
LexicalTag NON
ThesaurusID GHR (2014)

Scheie Syndrome Narrower

Concept UI: M0012559
Terms: Scheie Syndrome Preferred Term
Term UI T648265
Date08/10/2005
LexicalTag EPO
ThesaurusID; Mucopolysaccharidosis 5
Term UI T024020
Date09/11/1990
LexicalTag NON
ThesaurusID NLM (1992); Mucopolysaccharidosis I-S
Term UI T648267
Date08/10/2005
LexicalTag NON
ThesaurusID NLM (2007); Mucopolysaccharidosis Type Is
Term UI T811761
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Mucopolysaccharidosis V
Term UI T024017
Date09/11/1990
LexicalTag NON
ThesaurusID NLM (1992); Scheie's Syndrome
Term UI T024018
Date09/11/1990
LexicalTag EPO
ThesaurusID NLM (1992)

Hurler-Scheie Syndrome Narrower

Hurler Syndrome Related

Concept UI: M0012561
Terms: Hurler Syndrome Preferred Term
Term UI T812020
Date11/15/2011
LexicalTag EPO
ThesaurusID; Gargoylism
Term UI T844857
Date05/31/2013
LexicalTag NON
ThesaurusID NLM (2014); Gargoylism, Hurler Syndrome
Term UI T443709
Date04/20/2001
LexicalTag EPO
ThesaurusID NLM (2002); Hurler Disease
Term UI T024024
Date10/18/1990
LexicalTag EPO
ThesaurusID NLM (1992); Hurler's Disease
Term UI T024025
Date09/10/1990
LexicalTag EPO
ThesaurusID NLM (1992); Hurler's Syndrome
Term UI T024026
Date09/10/1990
LexicalTag EPO
ThesaurusID NLM (1992); Mucopolysaccharidosis Type Ih
Term UI T812021
Date11/15/2011
LexicalTag NON
ThesaurusID OMIM (2013); Pfaundler-Hurler Syndrome
Term UI T024027
Date03/30/1974
LexicalTag EPO
ThesaurusID UNK (19XX)

alpha-L-Iduronidase Deficiency Related

Mucopolysaccharidosis I MeSH Descriptor Data 2025