Search on: BETA-HEXOSAMINIDASE-BETA-SUBUNIT DEFICIENCY 
Descriptors Found: 1
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Descriptor English:   Sandhoff Disease 
Descriptor Spanish:   Enfermedad de Sandhoff 
Descriptor Portuguese:   Doença de Sandhoff 
Synonyms English:   Adult Sandhoff Disease
Deficiencies, Total Hexosaminidase
Deficiencies, beta-Hexosaminidase-beta-Subunit
Deficiency Disease, Hexosaminidase A and B
Deficiency, Total Hexosaminidase
Deficiency, beta-Hexosaminidase-beta-Subunit
Disease, Sandhoff-Jatzkewitz-Pilz
G(M2) Gangliosidosis, Type II
GM2 Gangliosidosis, Type 2
GM2 Gangliosidosis, Type II
GM2-Gangliosidoses, Type II
GM2-Gangliosidosis, Type II
Gangliosidosis G(M2), Type II
Gangliosidosis GM2, Type II
Hexosaminidase A and B Deficiency Disease
Hexosaminidase Deficiencies, Total
Hexosaminidase Deficiency, Total
Hexosaminidases A And B Deficiency
Infantile Sandhoff Disease
Juvenile Sandhoff Disease
Sandhoff Disease, Adult
Sandhoff Disease, Infantile
Sandhoff Disease, Juvenile
Sandhoff Jatzkewitz Pilz Disease
Sandhoff's Disease
Sandhoff-Jatzkewitz-Pilz Disease
Sandhoffs Disease
Total Hexosaminidase Deficiencies
Total Hexosaminidase Deficiency
Type II GM2-Gangliosidoses
Type II GM2-Gangliosidosis
beta Hexosaminidase beta Subunit Deficiency
beta-Hexosaminidase-beta-Subunit Deficiencies
beta-Hexosaminidase-beta-Subunit Deficiency  
Tree Number:   C10.228.140.163.100.435.825.300.300.249
C16.320.565.189.435.825.300.300.249
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
C18.452.584.687.803.350.300.700
C18.452.648.189.435.825.300.300.249
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:  
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:   12873 
Unique Identifier:   D012497 

Occurrence in VHL: 		 

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