Gangliosidoses, GM2 [gangliosidózy GM2]

topical
2
Terms

gangliosidózy G(M2)
GM2 gangliosidóza

 

G(M2) Gangliosidoses
Gangliosidoses GM2
GM2 Gangliosidosis

Persistent link   https://www.medvik.cz/link/D020143
Definition

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.

DUI
D020143 MeSH Browser
CUI
M0328040
Previous indexing
Sandhoff Disease (1966-1999); Tay-Sachs Disease (1966-1999)
History note
2007 (2000)
Public note
2007; see GANGLIOSIDOSES GM2 2000-2006

Allowable subheadings

BL
blood 0
CF
cerebrospinal fluid 0
CI
chemically induced 0
CL
classification 0
CO
complications 0
DI
diagnosis 0
DG
diagnostic imaging 0
DH
diet therapy 0
DT
drug therapy 0
EC
economics 0
EM
embryology 0
EN
enzymology 0
EP
epidemiology 0
EH
ethnology 0
ET
etiology 0
GE
genetics 0
HI
history 0
IM
immunology 0
ME
metabolism 0
MI
microbiology 0
MO
mortality 0
NU
nursing 0
PS
parasitology 0
PA
pathology 0
PP
physiopathology 0
PC
prevention & control 0
PX
psychology 0
RT
radiotherapy 0
RH
rehabilitation 0
SU
surgery 0
TH
therapy 0
UR
urine 0
VE
veterinary 0
VI
virology 0

C Diseases
C10 Nervous System Diseases 1 877
C10.228 Central Nervous System Diseases 806
C10.228.140 Brain Diseases 1 177
C10.228.140.163 Brain Diseases, Metabolic 84
C10.228.140.163.100 Brain Diseases, Metabolic, Inborn 26
C10.228.140.163.100.435 Lysosomal Storage Diseases, Nervous System 13
C10.228.140.163.100.435.825 Sphingolipidoses 12
C10.228.140.163.100.435.825.300 Gangliosidoses 11
C10.228.140.163.100.435.825.300.300 Gangliosidoses, GM2 2
C10.228.140.163.100.435.825.300.300.249 Sandhoff Disease 1
C10.228.140.163.100.435.825.300.300.500 Tay-Sachs Disease 15
C10.228.140.163.100.435.825.300.300.750 Tay-Sachs Disease, AB Variant
C10.228.140.163.100.435.825.300.400 Gangliosidosis, GM1 3
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 213
C16.320.565 Metabolism, Inborn Errors 711
C16.320.565.189 Brain Diseases, Metabolic, Inborn 26
C16.320.565.189.435 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.189.435.825 Sphingolipidoses 12
C16.320.565.189.435.825.300 Gangliosidoses 11
C16.320.565.189.435.825.300.300 Gangliosidoses, GM2 2
C16.320.565.189.435.825.300.300.249 Sandhoff Disease 1
C16.320.565.189.435.825.300.300.500 Tay-Sachs Disease 15
C16.320.565.189.435.825.300.300.750 Tay-Sachs Disease, AB Variant
C16.320.565.189.435.825.300.400 Gangliosidosis, GM1 3
C16.320.565.398 Lipid Metabolism, Inborn Errors 154
C16.320.565.398.641 Lipidoses 35
C16.320.565.398.641.803 Sphingolipidoses 12
C16.320.565.398.641.803.350 Gangliosidoses 11
C16.320.565.398.641.803.350.300 Gangliosidoses, GM2 2
C16.320.565.398.641.803.350.300.700 Sandhoff Disease 1
C16.320.565.398.641.803.350.300.850 Tay-Sachs Disease 15
C16.320.565.398.641.803.350.300.925 Tay-Sachs Disease, AB Variant
C16.320.565.398.641.803.350.360 Gangliosidosis, GM1 3
C16.320.565.595 Lysosomal Storage Diseases 72
C16.320.565.595.554 Lysosomal Storage Diseases, Nervous System 13
C16.320.565.595.554.825 Sphingolipidoses 12
C16.320.565.595.554.825.300 Gangliosidoses 11
C16.320.565.595.554.825.300.300 Gangliosidoses, GM2 2
C16.320.565.595.554.825.300.300.800 Sandhoff Disease 1
C16.320.565.595.554.825.300.300.840 Tay-Sachs Disease 15
C16.320.565.595.554.825.300.300.920 Tay-Sachs Disease, AB Variant
C16.320.565.595.554.825.300.400 Gangliosidosis, GM1 3
C18 Nutritional and Metabolic Diseases 172
C18.452 Metabolic Diseases 1 196
C18.452.132 Brain Diseases, Metabolic 84
C18.452.132.100 Brain Diseases, Metabolic, Inborn 26
C18.452.132.100.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.132.100.435.825 Sphingolipidoses 12
C18.452.132.100.435.825.300 Gangliosidoses 11
C18.452.132.100.435.825.300.300 Gangliosidoses, GM2 2
C18.452.132.100.435.825.300.300.249 Sandhoff Disease 1
C18.452.132.100.435.825.300.300.500 Tay-Sachs Disease 15
C18.452.132.100.435.825.300.300.750 Tay-Sachs Disease, AB Variant
C18.452.132.100.435.825.300.400 Gangliosidosis, GM1 3
C18.452.584 Lipid Metabolism Disorders 99
C18.452.584.563 Lipid Metabolism, Inborn Errors 154
C18.452.584.563.641 Lipidoses 35
C18.452.584.563.641.803 Sphingolipidoses 12
C18.452.584.563.641.803.350 Gangliosidoses 11
C18.452.584.563.641.803.350.300 Gangliosidoses, GM2 2
C18.452.584.563.641.803.350.300.700 Sandhoff Disease 1
C18.452.584.563.641.803.350.300.850 Tay-Sachs Disease 15
C18.452.584.563.641.803.350.300.925 Tay-Sachs Disease, AB Variant
C18.452.584.563.641.803.350.360 Gangliosidosis, GM1 3
C18.452.648 Metabolism, Inborn Errors 711
C18.452.648.189 Brain Diseases, Metabolic, Inborn 26
C18.452.648.189.435 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.189.435.825 Sphingolipidoses 12
C18.452.648.189.435.825.300 Gangliosidoses 11
C18.452.648.189.435.825.300.300 Gangliosidoses, GM2 2
C18.452.648.189.435.825.300.300.249 Sandhoff Disease 1
C18.452.648.189.435.825.300.300.500 Tay-Sachs Disease 15
C18.452.648.189.435.825.300.300.750 Tay-Sachs Disease, AB Variant
C18.452.648.189.435.825.300.400 Gangliosidosis, GM1 3
C18.452.648.398 Lipid Metabolism, Inborn Errors 154
C18.452.648.398.641 Lipidoses 35
C18.452.648.398.641.803 Sphingolipidoses 12
C18.452.648.398.641.803.350 Gangliosidoses 11
C18.452.648.398.641.803.350.300 Gangliosidoses, GM2 2
C18.452.648.398.641.803.350.300.700 Sandhoff Disease 1
C18.452.648.398.641.803.350.300.850 Tay-Sachs Disease 15
C18.452.648.398.641.803.350.300.925 Tay-Sachs Disease, AB Variant
C18.452.648.398.641.803.350.360 Gangliosidosis, GM1 3
C18.452.648.595 Lysosomal Storage Diseases 72
C18.452.648.595.554 Lysosomal Storage Diseases, Nervous System 13
C18.452.648.595.554.825 Sphingolipidoses 12
C18.452.648.595.554.825.300 Gangliosidoses 11
C18.452.648.595.554.825.300.300 Gangliosidoses, GM2 2
C18.452.648.595.554.825.300.300.800 Sandhoff Disease 1
C18.452.648.595.554.825.300.300.840 Tay-Sachs Disease 15
C18.452.648.595.554.825.300.300.920 Tay-Sachs Disease, AB Variant
C18.452.648.595.554.825.300.400 Gangliosidosis, GM1 3

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