Search on: TAY-SACHS DISEASE, AB VARIANT 
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Descriptor English:   Tay-Sachs Disease, AB Variant 
Descriptor Spanish:   Enfermedad de Tay-Sachs Variante AB 
Descriptor Portuguese:   Doença de Tay-Sachs Variante AB 
Synonyms English:   AB Variant GM2-Gangliosidosis
AB Variant Gangliosidosis GM2
Activator Deficiency GM2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease
Deficiency Disease, GM2 Protein Activator
GM2 Activator Deficiency
GM2 Activator Deficiency Disease
GM2 Gangliosidosis, Type AB
GM2-Gangliosidosis, AB Variant
Hexosaminidase Activator Deficiency
Hexosaminidase Activator Protein Deficiency Disease
AB Variant GM2 Gangliosidosis
AB Variant GM2-Gangliosidoses
Activator Deficiencies, GM2
Activator Deficiencies, Hexosaminidase
Activator Deficiency, GM2
Activator Deficiency, Hexosaminidase
Activator Deficient Tay Sachs Disease
Activator-Deficient Tay-Sachs Diseases
Deficiencies, GM2 Activator
Deficiencies, Hexosaminidase Activator
Deficiency, GM2 Activator
Deficiency, Hexosaminidase Activator
Disease, Activator-Deficient Tay-Sachs
Diseases, Activator-Deficient Tay-Sachs
GM2 Activator Deficiencies
GM2 Gangliosidosis, AB Variant
GM2-Gangliosidoses, AB Variant
Hexosaminidase Activator Deficiencies
Tay Sachs Disease, AB Variant
Tay-Sachs Disease, Activator-Deficient
Tay-Sachs Diseases, Activator-Deficient
Variant GM2-Gangliosidoses, AB
Variant GM2-Gangliosidosis, AB
Gangliosidosis GM2, AB Variant
Gangliosidosis GM2, Type AB
GM2 Protein Activator Deficiency Disease  
Tree Number:   C10.228.140.163.100.435.825.300.300.750
C16.320.565.189.435.825.300.300.750
C16.320.565.398.641.803.350.300.925
C16.320.565.595.554.825.300.300.920
C18.452.132.100.435.825.300.300.750
C18.452.584.687.803.350.300.925
C18.452.648.189.435.825.300.300.750
C18.452.648.398.641.803.350.300.925
C18.452.648.595.554.825.300.300.920
Definition English:   A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein. 
See Related English:   G(M2) Activator Protein
 
History Note English:   2005(2000); use GANGLIOSIDOSES GM2 2000-2004 
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:   38631 
Unique Identifier:   D049290 

Occurrence in VHL:
 

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