Preferred Label : Tay-Sachs disease, AB variant;
MeSH definition : 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.;
MeSH synonym : gangliosidosis gm2, type ab; hexosaminidase activator protein deficiency disease; gangliosidosis gm2, ab variant; deficiency disease, gm2 protein activator; gm2 activator deficiency disease; gm2 protein activator deficiency disease; ab variant gangliosidosis gm2; AB variant GM2-Gangliosidosis; AB variant GM2 gangliosidosis; AB variant GM2-Gangliosidoses; GM2-Gangliosidoses, AB variant; variant GM2-Gangliosidoses, AB; variant GM2-Gangliosidosis, AB; GM2 activator deficiency; activator deficiencies, GM2; activator deficiency, GM2; deficiencies, GM2 activator; deficiency, GM2 activator; GM2 activator deficiencies; GM2-Gangliosidosis, AB variant; GM2 gangliosidosis, AB variant; tay sachs disease, AB variant; hexosaminidase activator deficiency; activator deficiencies, hexosaminidase; activator deficiency, hexosaminidase; deficiencies, hexosaminidase activator; deficiency, hexosaminidase activator; hexosaminidase activator deficiencies; Activator-Deficient Tay-Sachs disease; activator deficient tay sachs disease; Activator-Deficient Tay-Sachs diseases; disease, Activator-Deficient Tay-Sachs; diseases, Activator-Deficient Tay-Sachs; Tay-Sachs disease, Activator-Deficient; Tay-Sachs diseases, Activator-Deficient; GM2 gangliosidosis, type AB; activator deficiency GM2 gangliosidosis;
CISMeF synonym : Tay-Sachs; Tay-Sachs's disease, AB variant;
Origin ID : D049290;
UMLS CUI : C0268275;
Allowable qualifiers
- Currated CISMeF NLP mapping
- DO Cross reference
- Record concept(s)
- See also
- Semantic type(s)
- UMLS correspondences (same concept)
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.
