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Descriptor English: Gangliosidoses
Descriptor Spanish: Gangliosidosis
Descriptor gangliosidosis
Scope note: Grupo de enfermedades hereditarias, a menudo fatales, que se caracterizan por acumulación de GANGLIÓSIDOS en los LISOSOMAS, secundaria a estados de deficiencia enzimática. Las gangliosidosis incluyen la ENFERMEDAD DE TAY-SACHS, GANGLIOSIDOSIS GM1, GANGLIOSIDOSIS GM2 y la ENFERMEDAD DE SANDHOFF, que comparten el comienzo neonatal o infantil del deterioro del SISTEMA NERVIOSO CENTRAL. (Menkes, Textbook of Child Neurology, 5th ed, pp89-97)
Descriptor Portuguese: Gangliosidoses
Descriptor French: Gangliosidoses
Tree number(s): C10.228.140.163.100.435.825.300
C16.320.565.189.435.825.300
C16.320.565.398.641.803.350
C16.320.565.595.554.825.300
C18.452.132.100.435.825.300
C18.452.584.563.641.803.350
C18.452.648.189.435.825.300
C18.452.648.398.641.803.350
C18.452.648.595.554.825.300
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D005733
Scope note: A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.
Annotation: coordinate IM with specific ganglioside (IM) but GANGLIOSIDOSIS, GM1 and GANGLIOSIDOSES, GM2 are available
Allowable Qualifiers: BL sang
CF liquide cérébrospinal
CI induit chimiquement
CL classification
CO complications
DG imagerie diagnostique
DH diétothérapie
DI diagnostic
DT traitement médicamenteux
EC économie
EH ethnologie
EM embryologie
EN enzymologie
EP épidémiologie
ET étiologie
GE génétique
HI histoire
IM immunologie
ME métabolisme
MI microbiologie
MO mortalité
NU soins infirmiers
PA anatomopathologie
PC prévention et contrôle
PP physiopathologie
PS parasitologie
PX psychologie
RH rééducation et réadaptation
RT radiothérapie
SU chirurgie
TH thérapie
UR urine
VE médecine vétérinaire
VI virologie
Related: Mucolipidoses MeSH
DeCS ID: 30336
Unique ID: D005733
NLM Classification: WD 205.5.L5
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1976/01/01
Date of Entry: 1975/07/23
Revision Date: 2010/06/25
Gangliosidoses - Preferred
Concept UI M0008988
Preferred term Gangliosidoses



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