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TAY-SACHS DISEASE
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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
:
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:
14040
Unique Identifier:
D013661
Occurrence in VHL
:
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