Gm2-Gangliosidosis, Ab Variant (GM2GAB)

Gm2-Gangliosidosis, Ab Variant(来自ICD-11)

别称:

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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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

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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