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Mucolipidoses MeSH Descriptor Data 2021


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
Mucolipidoses Preferred
Type I Mucolipidosis Narrower
Type III Mucolipidosis Narrower
Type IV Mucolipidosis Narrower
Lipomucopolysaccharidosis Narrower
Type II Mucolipidosis Narrower
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