MeSH Browser

MeSH Heading: Mucolipidoses
Tree Number(s): C05.116.198.371; C10.228.140.163.100.435.590; C16.320.565.189.435.590; C16.320.565.202.670; C16.320.565.595.554.590; C18.452.132.100.435.590; C18.452.648.189.435.590; C18.452.648.202.670; C18.452.648.595.554.590
Unique ID: D009081
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D009081
Scope Note: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Entry Term(s): Cherry Red Spot Myoclonus Syndrome; Cherry Red Spot-Myoclonus Syndrome; Deficiency Disease, Ganglioside Sialidase; Ganglioside Sialidase Deficiency Disease; Glycoprotein Neuraminidase Deficiency; I-Cell Disease; Inclusion Cell Disease; Lipomucopolysaccharidosis; Mucolipidosis; Mucolipidosis I; Mucolipidosis II; Mucolipidosis III; Mucolipidosis III Alpha Beta; Mucolipidosis IIIa; Mucolipidosis IV; Mucolipidosis Type 1; Mucolipidosis Type I; Mucolipidosis Type II; Mucolipidosis Type III; Mucolipidosis Type IV; Myoclonus Cherry Red Spot Syndrome; Myoclonus-Cherry Red Spot Syndrome; Pseudo-Hurler Polydystrophy; Psuedo-Hurler Disease; Sialidosis; Sialolipidosis; Type I Mucolipidosis; Type II Mucolipidosis; Type III Mucolipidosis; Type IV Mucolipidosis
Previous Indexing: Lipid Metabolism, Inborn Errors (1966-1976); Lipochondrodystrophy (1966-1976); Lipoidosis (1966-1976); Mucopolysaccharidosis (1974-1976)
See Also: Gangliosidoses
Public MeSH Note: 2000
History Note: 2000(1977)
Date Established: 1977/01/01
Date of Entry: 1976/05/19
Revision Date: 2016/02/26

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)

Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
  - Bone Diseases, Metabolic [C05.116.198]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Fucosidosis [C10.228.140.163.100.435.295]
        
        Glycogen Storage Disease Type II [C10.228.140.163.100.435.340]
        
        Mucolipidoses [C10.228.140.163.100.435.590]
        
        Sialic Acid Storage Disease [C10.228.140.163.100.435.810]
        
        Sphingolipidoses [C10.228.140.163.100.435.825]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.189.435]
        
        Fucosidosis [C16.320.565.189.435.295]
        
        Glycogen Storage Disease Type II [C16.320.565.189.435.340]
        
        Mucolipidoses [C16.320.565.189.435.590]
        
        Sialic Acid Storage Disease [C16.320.565.189.435.810]
        
        Sphingolipidoses [C16.320.565.189.435.825]

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]

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]
      - Lysosomal Storage Diseases, Nervous System [C16.320.565.595.554]
        
        Fucosidosis [C16.320.565.595.554.295]
        
        Glycogen Storage Disease Type II [C16.320.565.595.554.340]
        
        Mucolipidoses [C16.320.565.595.554.590]
        
        Sialic Acid Storage Disease [C16.320.565.595.554.810]
        
        Sphingolipidoses [C16.320.565.595.554.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]
      - Lysosomal Storage Diseases, Nervous System [C18.452.132.100.435]
        
        Fucosidosis [C18.452.132.100.435.295]
        
        Glycogen Storage Disease Type II [C18.452.132.100.435.340]
        
        Mucolipidoses [C18.452.132.100.435.590]
        
        Sialic Acid Storage Disease [C18.452.132.100.435.810]
        
        Sphingolipidoses [C18.452.132.100.435.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.189.435]
        
        Fucosidosis [C18.452.648.189.435.295]
        
        Glycogen Storage Disease Type II [C18.452.648.189.435.340]
        
        Mucolipidoses [C18.452.648.189.435.590]
        
        Sialic Acid Storage Disease [C18.452.648.189.435.810]
        
        Sphingolipidoses [C18.452.648.189.435.825]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Carbohydrate Metabolism, Inborn Errors [C18.452.648.202]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Lysosomal Storage Diseases [C18.452.648.595]
      - Lysosomal Storage Diseases, Nervous System [C18.452.648.595.554]
        
        Fucosidosis [C18.452.648.595.554.295]
        
        Glycogen Storage Disease Type II [C18.452.648.595.554.340]
        
        Mucolipidoses [C18.452.648.595.554.590]
        
        Sialic Acid Storage Disease [C18.452.648.595.554.810]
        
        Sphingolipidoses [C18.452.648.595.554.825]

Mucolipidoses Preferred

Concept UI: M0014165
Scope Note: A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or glycolipids in visceral and mesenchymal cells. Abnormal amounts of sphingolipids or glycolipids are present in neural tissue. INTELLECTUAL DISABILITY and skeletal changes, most notably dysostosis multiplex, occur frequently. (From Joynt, Clinical Neurology, 1992, Ch56, pp36-7)
Terms: Mucolipidoses Preferred Term
Term UI T365788
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Sialidosis
Term UI T369537
Date11/03/1999
LexicalTag NON
ThesaurusID; Mucolipidosis
Term UI T027139
Date01/01/1999
LexicalTag NON
ThesaurusID NLM (1977)

Type I Mucolipidosis Narrower

Type III Mucolipidosis Narrower

Concept UI: M0335704
Terms: Type III Mucolipidosis Preferred Term
Term UI T369534
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Mucolipidosis III
Term UI T369536
Date11/03/1999
LexicalTag NON
ThesaurusID; Pseudo-Hurler Polydystrophy
Term UI T027140
Date05/16/1976
LexicalTag EPO
ThesaurusID; Mucolipidosis IIIa
Term UI T824106
Date06/19/2012
LexicalTag NON
ThesaurusID; Mucolipidosis III Alpha Beta
Term UI T000888253
Date10/20/2015
LexicalTag NON
ThesaurusID NLM (2016); Mucolipidosis Type III
Term UI T369535
Date11/03/1999
LexicalTag NON
ThesaurusID; Psuedo-Hurler Disease
Term UI T369539
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000)

Type IV Mucolipidosis Narrower

Concept UI: M0335703
Terms: Type IV Mucolipidosis Preferred Term
Term UI T369530
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Deficiency Disease, Ganglioside Sialidase
Term UI T369533
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Ganglioside Sialidase Deficiency Disease
Term UI T369531
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); Sialolipidosis
Term UI T812132
Date11/15/2011
LexicalTag NON
ThesaurusID; Mucolipidosis Type IV
Term UI T369532
Date11/03/1999
LexicalTag NON
ThesaurusID; Mucolipidosis IV
Term UI T369540
Date11/03/1999
LexicalTag NON
ThesaurusID

Lipomucopolysaccharidosis Narrower

Type II Mucolipidosis Narrower

Concept UI: M0014163
Terms: Type II Mucolipidosis Preferred Term
Term UI T369522
Date11/03/1999
LexicalTag NON
ThesaurusID NLM (2000); I-Cell Disease
Term UI T027137
Date05/16/1976
LexicalTag NON
ThesaurusID; Mucolipidosis Type II
Term UI T369524
Date11/03/1999
LexicalTag NON
ThesaurusID; Inclusion Cell Disease
Term UI T369523
Date11/03/1999
LexicalTag NON
ThesaurusID; Mucolipidosis II
Term UI T369538
Date11/03/1999
LexicalTag NON
ThesaurusID

Mucolipidoses MeSH Descriptor Data 2024