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SANDHOFF DISEASE
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DeCS
Descriptor
English
:
Sandhoff Disease
Descriptor
Spanish
:
Enfermedad de Sandhoff
Descriptor
Portuguese
:
Doença de Sandhoff
Synonyms
English
:
Gangliosidosis G(M2), Type II
G(M2) Gangliosidosis, Type II
Hexosaminidase A and B Deficiency Disease
Tree Number:
C10.228.140.163.100.435.825.300.300.249
C10.228.140.163.100.435.825.300.700
C16.320.565.189.435.825.300.300.249
C16.320.565.189.435.825.300.700
C16.320.565.398.641.803.350.300.700
C16.320.565.595.554.825.300.300.800
C18.452.132.100.435.825.300.300.249
C18.452.132.100.435.825.300.700
C18.452.584.687.803.350.300.700
C18.452.648.189.435.825.300.300.249
C18.452.648.189.435.825.300.700
C18.452.648.398.641.803.350.300.700
C18.452.648.595.554.825.300.300.800
Definition
English
:
An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in
neurons
and other
tissues
. It is caused by
mutation
in the common beta subunit of
HEXOSAMINIDASE A
and
HEXOSAMINIDASE B
. Thus this
disease
is also known as the O variant since both
hexosaminidase A
and B are missing. Clinically, it is indistinguishable from
TAY-SACHS DISEASE.
See Related
English
:
beta-N-Acetylhexosaminidases
History Note
English
:
1979
Allowable Qualifiers
English
:
BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RA
radiography
RI
radionuclide imaging
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
US
ultrasonography
UR
urine
VE
veterinary
VI
virology
Record Number:
12873
Unique Identifier:
D012497
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
LIS