Sandhoff Disease [Sandhoffova nemoc]
- Terms
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GM2 gangliosidóza II
GM2 gangliosidóza, typ II
Sandhoffova nemoc u dospělých
Sandhoffova nemoc, dospělá forma
Sandhoffova nemoc, dospělý typ
Sandhoffova nemoc, infantilní forma
Sandhoffova nemoc, infantilní typ
Sandhoffova nemoc, juvenilní forma
Sandhoffova nemoc, juvenilní typ
úplný deficit hexosaminidázy
úplný nedostatek hexosaminidázy
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Adult Sandhoff Disease
beta-Hexosaminidase-beta-Subunit Deficiency
Deficiency Disease, Hexosaminidase A and B
G(M2) Gangliosidosis, Type II
Gangliosidosis G(M2), Type II
Gangliosidosis GM2, Type II
GM2 Gangliosidosis, Type 2
GM2 Gangliosidosis, Type II
GM2-Gangliosidosis, Type II
Hexosaminidase A and B Deficiency Disease
Hexosaminidases A And B Deficiency
Infantile Sandhoff Disease
Juvenile Sandhoff Disease
Sandhoff Disease, Adult
Sandhoff Disease, Adult Type
Sandhoff Disease, Infantile
Sandhoff Disease, Infantile Type
Sandhoff Disease, Juvenile
Sandhoff Disease, Juvenile Type
Sandhoff-Jatzkewitz-Pilz Disease
Sandhoff's Disease
Total Hexosaminidase Deficiency
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.
- DUI
- D012497 MeSH Browser
- CUI
- M0019413
- Previous indexing
- Lipoidosis (1966-1978); Gangliosides (1966-1978); Gangliosidosis (1976-1978); G(M2) Ganglioside (1975-1978); Hexosaminidases (1971-1978); Sphingolipidosis (1974-1978)
- History note
- 1979
- Public note
- 1979
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 1
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 1
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology