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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
:
blood
cerebrospinal fluid
chemically induced
classification
complications
diet therapy
diagnosis
drug therapy
economics
ethnology
embryology
enzymology
epidemiology
etiology
genetics
history
immunology
metabolism
microbiology
mortality
nursing
pathology
prevention & control
physiopathology
parasitology
psychology
radiography
rehabilitation
radionuclide imaging
radiotherapy
surgery
therapy
urine
ultrasonography
veterinary
virology
Record Number:
12873
Unique Identifier:
D012497
Occurrence in VHL
:
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