Concept information
Término preferido
Tay-Sachs Disease
Notice: Undefined index: in /var/www/html/model/Concept.php on line 545
Tipo
-
mesh:Descriptor
Definición
- 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. An outdated term for Tay-Sachs disease.
Concepto genérico
Etiquetas alternativas
- B Variant GM2 Gangliosidosis
- B Variant GM2-Gangliosidosis
- Deficiency Disease Hexosaminidase A
- Gangliosidosis GM2 , Type 1
- Gangliosidosis GM2, B Variant
- Gangliosidosis GM2, Type I
- Gangliosidosis G(M2), Type I
- GM2 Gangliosidosis, B Variant
- GM2 Gangliosidosis, Type 1
- G(M2) Gangliosidosis, Type I
- GM2 Gangliosidosis, Type I
- GM2-Gangliosidosis, Type I
- Hexosaminidase A Deficiency Disease
- Sphingolipidosis, Tay-Sachs
- Tay-Sachs Disease, B Variant
En otras lenguas
-
francés
-
Déficit en hexosaminidase A
-
Gangliosidose à GM2 de type 1
-
Gangliosidose à GM2 de type I
-
Gangliosidose à GM2 variante B
URI
http://data.loterre.fr/ark:/67375/JVR-LX79MV30-F
{{label}}
{{#each values }} {{! loop through ConceptPropertyValue objects }}
{{#if prefLabel }}
{{/if}}
{{/each}}
{{#if notation }}{{ notation }} {{/if}}{{ prefLabel }}
{{#ifDifferentLabelLang lang }} ({{ lang }}){{/ifDifferentLabelLang}}
{{#if vocabName }}
{{ vocabName }}
{{/if}}