| Descriptor English: | Tay-Sachs Disease, AB Variant | ||||||
| Descriptor Spanish: |
Enfermedad de Tay-Sachs Variante AB
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| Descriptor Portuguese: | Doença de Tay-Sachs Variante AB | ||||||
| Descriptor French: | Maladie de Tay-Sachs variante AB | ||||||
| Entry term(s): |
AB Variant GM2 Gangliosidosis AB Variant GM2-Gangliosidoses AB Variant GM2-Gangliosidosis AB Variant Gangliosidosis GM2 Activator Deficiencies, GM2 Activator Deficiencies, Hexosaminidase Activator Deficiency GM2 Gangliosidosis Activator Deficiency, GM2 Activator Deficiency, Hexosaminidase Activator Deficient Tay Sachs Disease Activator-Deficient Tay-Sachs Disease Activator-Deficient Tay-Sachs Diseases Deficiencies, GM2 Activator Deficiencies, Hexosaminidase Activator Deficiency Disease, GM2 Protein Activator Deficiency, GM2 Activator Deficiency, Hexosaminidase Activator Disease, Activator-Deficient Tay-Sachs Diseases, Activator-Deficient Tay-Sachs GM2 Activator Deficiencies GM2 Activator Deficiency GM2 Activator Deficiency Disease GM2 Gangliosidosis, AB Variant GM2 Gangliosidosis, Type AB GM2 Protein Activator Deficiency Disease GM2-Gangliosidoses, AB Variant GM2-Gangliosidosis, AB Variant Gangliosidosis GM2, AB Variant Gangliosidosis GM2, Type AB Hexosaminidase Activator Deficiencies Hexosaminidase Activator Deficiency Hexosaminidase Activator Protein Deficiency Disease Tay Sachs Disease, AB Variant Tay-Sachs Disease, Activator-Deficient Tay-Sachs Diseases, Activator-Deficient Variant GM2-Gangliosidoses, AB Variant GM2-Gangliosidosis, AB |
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| Tree number(s): |
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 C18.452.584.563.641.803.350.300.925 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D049290 | ||||||
| Scope note: | 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. |
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| 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 |
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| Previous Indexing: |
Gangliosidoses (2000-2004) |
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| Public MeSH Note: | 2005; see GANGLIOSIDOSES GM2 2000-2004 |
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| History Note: | 2005(2000); use GANGLIOSIDOSES GM2 2000-2004 |
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| Related: |
G(M2) Activator Protein
MeSH | ||||||
| DeCS ID: | 38631 | ||||||
| Unique ID: | D049290 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2005/01/01 | ||||||
| Date of Entry: | 2004/07/07 | ||||||
| Revision Date: | 2013/07/08 |
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Tay-Sachs Disease, AB Variant
- Preferred
| Concept UI |
M0335225 |
| Scope note | 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. |
| Preferred term | Tay-Sachs Disease, AB Variant |
| Entry term(s) |
AB Variant GM2 Gangliosidosis AB Variant GM2-Gangliosidoses AB Variant GM2-Gangliosidosis AB Variant Gangliosidosis GM2 Activator Deficiencies, GM2 Activator Deficiencies, Hexosaminidase Activator Deficiency GM2 Gangliosidosis Activator Deficiency, GM2 Activator Deficiency, Hexosaminidase Activator Deficient Tay Sachs Disease Activator-Deficient Tay-Sachs Disease Activator-Deficient Tay-Sachs Diseases Deficiencies, GM2 Activator Deficiencies, Hexosaminidase Activator Deficiency Disease, GM2 Protein Activator Deficiency, GM2 Activator Deficiency, Hexosaminidase Activator Disease, Activator-Deficient Tay-Sachs Diseases, Activator-Deficient Tay-Sachs GM2 Activator Deficiencies GM2 Activator Deficiency GM2 Activator Deficiency Disease GM2 Gangliosidosis, AB Variant GM2 Gangliosidosis, Type AB GM2 Protein Activator Deficiency Disease GM2-Gangliosidoses, AB Variant GM2-Gangliosidosis, AB Variant Gangliosidosis GM2, AB Variant Gangliosidosis GM2, Type AB Hexosaminidase Activator Deficiencies Hexosaminidase Activator Deficiency Hexosaminidase Activator Protein Deficiency Disease Tay Sachs Disease, AB Variant Tay-Sachs Disease, Activator-Deficient Tay-Sachs Diseases, Activator-Deficient Variant GM2-Gangliosidoses, AB Variant GM2-Gangliosidosis, AB |
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