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HEXOSAMINIDASE A DEFICIENCY DISEASE
Descriptors Found:
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DeCS
Descriptor
English
:
Tay-Sachs Disease
Descriptor
Spanish
:
Enfermedad de Tay-Sachs
Descriptor
Portuguese
:
Doença de Tay-Sachs
Synonyms
English
:
Gangliosidosis G(M2), Type I
G(M2) Gangliosidosis, Type I
Gangliosidosis GM2, B Variant
Hexosaminidase A Deficiency Disease
Tay-Sachs Disease, B Variant
Tree Number:
C10.228.140.163.100.435.825.300.300.500
C16.320.565.189.435.825.300.300.500
C16.320.565.398.641.803.350.300.850
C16.320.565.595.554.825.300.300.840
C18.452.132.100.435.825.300.300.500
C18.452.584.687.803.350.300.850
C18.452.648.189.435.825.300.300.500
C18.452.648.398.641.803.350.300.850
C18.452.648.595.554.825.300.300.840
Definition
English
:
An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by
paralysis
,
dementia
, and
blindness
. It is caused by
mutation
in the alpha subunit of the
HEXOSAMINIDASE A
resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased
HEXOSAMINIDASE B
but absence of
hexosaminidase A
) and is strongly associated with Ashkenazic Jewish ancestry.
Indexing Annotation
English
:
TAY-SACHS DISEASE
, AB VARIANT is also available
See Related
English
:
beta-N-Acetylhexosaminidases
History Note
English
:
1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006
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:
14040
Unique Identifier:
D013661
Occurrence in VHL
:
Similar:
DeCS
CID-10
SciELO
LILACS
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