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Descriptor English: Gangliosidoses, GM2
Descriptor Spanish: Gangliosidosis GM2
Descriptor gangliosidosis GM2
Entry term(s) gangliosidosis G(M2)
Scope note: Grupo de enfermedades de herencia recesiva que se caracterizan por la acumulación intralisosómica del GANGLIÓSIDO G(M2) en las células neuronales. Los subtipos incluyen mutaciones de enzimas del sistema BETA-N-ACETILHEXOSAMINIDASAS o PROTEÍNA ACTIVADORA G(M2) que lleva a la desestructuración de la degradación normal de los GANGLIÓSIDOS, subclase de los GLICOESFINGOLÍPIDOS ÁCIDOS.
Descriptor Portuguese: Gangliosidoses GM2
Descriptor French: Gangliosidoses à GM2
Entry term(s): G(M2) Gangliosidoses
GM2 Gangliosidose
GM2 Gangliosidoses
GM2 Gangliosidosis
GM2, Gangliosidoses
Gangliosidose, GM2
Gangliosidoses GM2
Gangliosidosis, GM2
Tree number(s): C10.228.140.163.100.435.825.300.300
C16.320.565.189.435.825.300.300
C16.320.565.398.641.803.350.300
C16.320.565.595.554.825.300.300
C18.452.132.100.435.825.300.300
C18.452.584.563.641.803.350.300
C18.452.648.189.435.825.300.300
C18.452.648.398.641.803.350.300
C18.452.648.595.554.825.300.300
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D020143
Scope note: A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
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: Sandhoff Disease (1966-1999)
Tay-Sachs Disease (1966-1999)
Public MeSH Note: 2007; see GANGLIOSIDOSES GM2 2000-2006
History Note: 2007 (2000)
Related: beta-N-Acetylhexosaminidases MeSH
DeCS ID: 34238
Unique ID: D020143
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 2000/01/01
Date of Entry: 1999/11/08
Revision Date: 2007/07/11
Gangliosidoses, GM2 - Preferred
Concept UI M0328040
Scope note A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS.
Preferred term Gangliosidoses, GM2
Entry term(s) G(M2) Gangliosidoses
GM2 Gangliosidose
GM2 Gangliosidoses
GM2 Gangliosidosis
GM2, Gangliosidoses
Gangliosidose, GM2
Gangliosidoses GM2
Gangliosidosis, GM2



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