Immunodeficiency 23 (IMD23)

Alias:

Pgm3-Related Congenital Disorder of Glycosylation

Combined Immunodeficiency Due to Pgm3 Deficiency

Cid Due to Pgm3 Deficiency

Pgm3-Cdg

Immunodeficiency with Hyper Ige and Cognitive Impairment

Immunodeficiency-Vasculitis-Myoclonus Syndrome

Imd23

Ivms

Deficiency of N-Acetylglucosamine-Phosphate Mutase 1

Pgm3-Congenital Disorder of Glycosylation

Phosphoglucomutase Deficiency Type 3

Deficiency of Phosphoglucomutase 3

Phosphoglucomutase 3 Deficiency

Immunodeficiency, Type 23

Agm1 Deficiency

Pgm3 Deficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 23, also known as pgm3-related congenital disorder of glycosylation, is related to congenital disorder of glycosylation, type in and congenital disorder of glycosylation, type iij, and has symptoms including ataxia An important gene associated with Immunodeficiency 23 is PGM3 (Phosphoglucomutase 3), and among its related pathways/superpathways are Metabolism of proteins and Infectious disease. Affiliated tissues include bone marrow and t cells, and related phenotypes are recurrent respiratory infections and autoimmunity

Related ID：

MALACARDS：IMM080

OMIM：615816

MESH：D007153