| Descriptor English: | Tay-Sachs Disease | ||||||
| Descriptor Spanish: |
Enfermedad de Tay-Sachs
| ||||||
| Descriptor Portuguese: | Doença de Tay-Sachs | ||||||
| Descriptor French: | Maladie de Tay-Sachs | ||||||
| Entry term(s): |
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(s): |
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 C18.452.584.563.641.803.350.300.850 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 |
||||||
| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D013661 | ||||||
| Scope note: | 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 |
||||||
| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
||||||
| Previous Indexing: |
Lipoidosis (1966-1978) |
||||||
| Public MeSH Note: | 1979; see AMAUROTIC FAMILIAL IDIOCY 1963-1978; for AMAUROTIC FAMILIAL IDIOCY see LIPOIDOSIS 1985-2006, see AMAUROTIC FAMILIAL IDIOCY 1963-1978 |
||||||
| History Note: | 1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006 |
||||||
| Entry Version: | TAY SACHS DIS |
||||||
| Related: |
beta-N-Acetylhexosaminidases
MeSH | ||||||
| DeCS ID: | 14040 | ||||||
| Unique ID: | D013661 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 1979/01/01 | ||||||
| Date of Entry: | 1978/05/22 | ||||||
| Revision Date: | 2013/07/08 |
|
|
Tay-Sachs Disease
- Preferred
Hexosaminidase alpha-Subunit Deficiency (Variant B)
- Related but not broader or narrower
Amaurotic Familial Idiocy
- Narrower
| Concept UI |
M0021080 |
| Scope note | 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. |
| Preferred term | Tay-Sachs Disease |
| Entry term(s) |
B Variant GM2 Gangliosidosis B Variant GM2-Gangliosidoses B Variant GM2-Gangliosidosis Deficiency Disease Hexosaminidase A 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 Hexosaminidase A Deficiency Disease 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 |
| Concept UI |
M0536544 |
| Preferred term | Hexosaminidase alpha-Subunit Deficiency (Variant B) |
| Entry term(s) |
Deficiency, Hexosaminidase A Deficiency, Hexosaminidase alpha-Subunit (Variant B) HexA Deficiency Hexosaminidase A Deficiency Hexosaminidase alpha Subunit Deficiency (Variant B) |
| Concept UI |
M0012567 |
| Scope note | An outdated term for Tay-Sachs disease. |
| Preferred term | Amaurotic Familial Idiocy |
| Entry term(s) |
Amaurotic Idiocy, Familial Familial Amaurotic Idiocy |
We want your feedback on the new DeCS / MeSH website
We invite you to complete a survey that will take no more than 3 minutes.
Go to survey
