Gm1-Gangliosidosis, Type I (GM1G1)

Alias:

Beta-Galactosidase-1 Deficiency

Infantile Gm1 Gangliosidosis

Gm1 Gangliosidosis Type 1

Gangliosidosis, Generalized Gm1, Type 1

Norman-Landing Disease

Glb1 Deficiency

Gm1g1

Gangliosidosis, Generalized Gm1, Infantile Form

Gangliosidosis Generalized Gm1 Infantile Type

Gangliosidosis, Generalized Gm1, Type I

Gangliosidosis Generalized Gm1 Type 1

Beta Galactosidase 1 Deficiency

Beta-Galactosidase Deficiency

Gm1-Gangliosidosis Infantile

Gangliosidosis Gm1 Infantile

Gangliosidosis, Gm1, Type I

Gm1-Gangliosidosis 1

Gangliosidosis Gm1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Gm1-Gangliosidosis, Type I, also known as beta-galactosidase-1 deficiency, is related to gm1 gangliosidosis and gm1-gangliosidosis, type ii, and has symptoms including joint stiffness An important gene associated with Gm1-Gangliosidosis, Type I is GLB1 (Galactosidase Beta 1), and among its related pathways/superpathways is Degradation pathway of sphingolipids, including diseases. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone and spinal cord, and related phenotypes are decreased beta-galactosidase activity and intellectual disability

Related ID：

MALACARDS：GM1004

OMIM：230500

MESH：D016537