Search on: HEXOSAMINIDASE A DEFICIENCY DISEASE 
Descriptors Found: 1
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Descriptor English:   Tay-Sachs Disease 
Descriptor Spanish:   Enfermedad de Tay-Sachs 
Descriptor Portuguese:   Doença de Tay-Sachs 
Synonyms English:   Amaurotic Familial Idiocy
Amaurotic Idiocy, Familial
B Variant GM2 Gangliosidosis
B Variant GM2-Gangliosidoses
B Variant GM2-Gangliosidosis
Deficiency Disease Hexosaminidase A
Deficiency, Hexosaminidase A
Deficiency, Hexosaminidase alpha-Subunit (Variant B)
Familial Amaurotic Idiocy
G(M2) Gangliosidosis, Type I
GM2 Gangliosidosis, B Variant
GM2 Gangliosidosis, Type 1
GM2 Gangliosidosis, Type I
GM2-Gangliosidosis, B Variant
GM2-Gangliosidosis, Type I
Gangliosidosis G(M2), Type I
Gangliosidosis GM2 , Type 1
Gangliosidosis GM2, B Variant
Gangliosidosis GM2, Type I
HexA Deficiency
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency Disease
Hexosaminidase alpha Subunit Deficiency (Variant B)
Hexosaminidase alpha-Subunit Deficiency (Variant B)
Sphingolipidosis, Tay Sachs
Sphingolipidosis, Tay-Sachs
Tay Sachs Disease
Tay Sachs Disease, B Variant
Tay-Sachs Disease, B Variant
Tay-Sachs Sphingolipidosis
Type I GM2-Gangliosidosis  
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
DG diagnostic imaging 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 RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   14040 
Unique Identifier:   D013661 

Occurrence in VHL:
 
LILACS    
MEDLINE    
MedCarib    
IBECS    

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