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Descriptor English: Mucolipidoses
Descriptor Spanish: Mucolipidosis
Descriptor Portuguese: Mucolipidoses
Descriptor French: Mucolipidoses
Entry term(s): Cherry Red Spot Myoclonus Syndrome
Cherry Red Spot-Myoclonus Syndrome
Deficiencies, Glycoprotein Neuraminidase
Deficiency Disease, Ganglioside Sialidase
Deficiency, Glycoprotein Neuraminidase
Ganglioside Sialidase Deficiency Disease
Glycoprotein Neuraminidase Deficiencies
Glycoprotein Neuraminidase Deficiency
I Cell Disease
I-Cell Disease
I-Cell Diseases
Inclusion Cell Disease
Inclusion Cell Diseases
Lipomucopolysaccharidoses
Lipomucopolysaccharidosis
Mucolipidoses, Type I
Mucolipidoses, Type II
Mucolipidoses, Type III
Mucolipidoses, Type IV
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
Mucolipidosis, Type I
Mucolipidosis, Type II
Mucolipidosis, Type III
Mucolipidosis, Type IV
Myoclonus Cherry Red Spot Syndrome
Myoclonus-Cherry Red Spot Syndrome
Polydystrophy, Pseudo-Hurler
Pseudo Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
Psuedo Hurler Disease
Psuedo-Hurler Disease
Psuedo-Hurler Diseases
Sialidoses
Sialidosis
Sialolipidoses
Sialolipidosis
Type I Mucolipidoses
Type I Mucolipidosis
Type II Mucolipidoses
Type II Mucolipidosis
Type III Mucolipidoses
Type III Mucolipidosis
Type IV Mucolipidoses
Type IV Mucolipidosis
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
RDF Unique Identifier: https://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)
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
Previous Indexing: Lipid Metabolism, Inborn Errors (1966-1976)
Lipochondrodystrophy (1966-1976)
Lipoidosis (1966-1976)
Mucopolysaccharidosis (1974-1976)
Public MeSH Note: 2000
History Note: 2000(1977)
Related: Gangliosidoses MeSH
DeCS ID: 9273
Unique ID: D009081
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1977/01/01
Date of Entry: 1976/05/19
Revision Date: 2016/02/26
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)
Preferred term Mucolipidoses
Entry term(s) Mucolipidosis
Sialidoses
Sialidosis
Type I Mucolipidosis - Narrower
Concept UI M0335702
Preferred term Type I Mucolipidosis
Entry term(s) Cherry Red Spot Myoclonus Syndrome
Cherry Red Spot-Myoclonus Syndrome
Deficiencies, Glycoprotein Neuraminidase
Deficiency, Glycoprotein Neuraminidase
Glycoprotein Neuraminidase Deficiencies
Glycoprotein Neuraminidase Deficiency
Mucolipidoses, Type I
Mucolipidosis I
Mucolipidosis Type 1
Mucolipidosis Type I
Mucolipidosis, Type I
Myoclonus Cherry Red Spot Syndrome
Myoclonus-Cherry Red Spot Syndrome
Type I Mucolipidoses
Type III Mucolipidosis - Narrower
Concept UI M0335704
Preferred term Type III Mucolipidosis
Entry term(s) Mucolipidoses, Type III
Mucolipidosis III
Mucolipidosis III Alpha Beta
Mucolipidosis IIIa
Mucolipidosis Type III
Mucolipidosis, Type III
Polydystrophy, Pseudo-Hurler
Pseudo Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
Psuedo Hurler Disease
Psuedo-Hurler Disease
Psuedo-Hurler Diseases
Type III Mucolipidoses
Type IV Mucolipidosis - Narrower
Concept UI M0335703
Preferred term Type IV Mucolipidosis
Entry term(s) Deficiency Disease, Ganglioside Sialidase
Ganglioside Sialidase Deficiency Disease
Mucolipidoses, Type IV
Mucolipidosis IV
Mucolipidosis Type IV
Mucolipidosis, Type IV
Sialolipidoses
Sialolipidosis
Type IV Mucolipidoses
Lipomucopolysaccharidosis - Narrower
Concept UI M0014164
Preferred term Lipomucopolysaccharidosis
Entry term(s) Lipomucopolysaccharidoses
Type II Mucolipidosis - Narrower
Concept UI M0014163
Preferred term Type II Mucolipidosis
Entry term(s) I Cell Disease
I-Cell Disease
I-Cell Diseases
Inclusion Cell Disease
Inclusion Cell Diseases
Mucolipidoses, Type II
Mucolipidosis II
Mucolipidosis Type II
Mucolipidosis, Type II
Type II Mucolipidoses



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