Tay-Sachs Disease [Tay-Sachsova nemoc]
- Terms
-
amaurotická familiární idiocie
GM2 gangliosidóza I
GM2 gangliosidóza, typ I
GM2 gangliosidóza, varianta B
idiocie, amaurotická familiární
nedostatek hexosaminidázy A
Tay Sachsova choroba
Tay Sachsův syndrom
Tay-Sachsova choroba
Tayova-Sachsova nemoc
-
Amaurotic Familial Idiocy
B Variant GM2 Gangliosidosis
B Variant GM2-Gangliosidosis
Deficiency Disease Hexosaminidase A
Familial Amaurotic Idiocy
G(M2) Gangliosidosis, Type I
Gangliosidosis G(M2), Type I
Gangliosidosis GM2 , Type 1
Gangliosidosis GM2, B Variant
Gangliosidosis GM2, Type I
GM2 Gangliosidosis, B Variant
GM2 Gangliosidosis, Type 1
GM2 Gangliosidosis, Type I
GM2-Gangliosidosis, Type I
HexA Deficiency
Hexosaminidase A Deficiency
Hexosaminidase A Deficiency Disease
Hexosaminidase alpha-Subunit Deficiency (Variant B)
Sphingolipidosis, Tay-Sachs
Tay-Sachs Disease, B Variant
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.
- Annotation
- TAY-SACHS DISEASE, AB VARIANT is also available
- k dispozici je i deskriptor TAY-SACHSOVA NEMOC, VARIANTA AB
- DUI
- D013661 MeSH Browser
- CUI
- M0021080
- Previous indexing
- Lipoidosis (1966-1978)
- History note
- 1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006
- Public note
- 1979; see AMAUROTIC FAMILIAL IDIOCY 1963-1978; for AMAUROTIC FAMILIAL IDIOCY see LIPOIDOSIS 1985-2006, see AMAUROTIC FAMILIAL IDIOCY 1963-1978
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis 6
- DG
- diagnostic imaging 2
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology 1
- EP
- epidemiology 2
- EH
- ethnology
- ET
- etiology 1
- GE
- genetics 5
- HI
- history 1
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 2
- PP
- physiopathology 2
- PC
- prevention & control
- PX
- psychology 2
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 4
- UR
- urine
- VE
- veterinary
- VI
- virology
Gm2-Gangliosidosis, Adult Chronic Type Disease MeSH Browser
Gm2-Gangliosidosis, Variant B1 Disease MeSH Browser
Hexosaminidase A Deficiency, Adult Type Disease MeSH Browser
Tay-Sachs Disease, Juvenile Disease MeSH Browser
Tay-Sachs Disease, Pseudo-AB Variant Disease MeSH Browser
Tay-Sachs Disease, Variant B1 Disease MeSH Browser