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ENGm2-Gangliosidosis, Ab Variant (GM2GAB)
Alias:
Hexosaminidase Activator Deficiency
Gm2 Gangliosidosis, Ab Variant
Tay-Sachs Disease, Ab Variant
Tay-Sachs Disease, Variant Ab
Gm2 Activator Deficiency
Tay-Sachs Disease Ab Variant
Activator Deficiency/gm2 Gangliosidosis
Activator-Deficient Tay-Sachs Disease
Gm2 Activator Deficiency Disease
Gm2-Gangliosidosis, Variant Ab
Ab Variant Gm2-Gangliosidosis
Gm2-Gangliosidosis Ab Variant
Gangliosidosis Gm2 Ab Variant
Gm2 Gangliosidosis, Type Ab
Gm2-Gangliosidosis Ab
Tay-Sachs Variant Ab
Ab Variant
Gm2gab
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Gm2-Gangliosidosis, Ab Variant, also known as hexosaminidase activator deficiency, is related to gm1 gangliosidosis and gangliosidoses, and has symptoms including hyperacusis, seizures and abnormal pyramidal signs. An important gene associated with Gm2-Gangliosidosis, Ab Variant is GM2A (Ganglioside GM2 Activator), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. Affiliated tissues include spinal cord and eye, and related phenotypes are hyperreflexia and abnormal pyramidal sign
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MALACARDS
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