Polyglucosan Body Myopathy 1 with or Without Immunodeficiency (PGBM1)

Alias:

Polyglucosan Body Myopathy Type 1

Pgbm1

Autoinflammatory Syndrome with Pyogenic Bacterial Infection and Amylopectinosis

Polyglucosan Body Myopathy, Early-Onset, with or Without Immunodeficiency

Pbmei

Polyglucosan Body Myopathy, Early-Onset, with/without Immunodeficiency

Polyglucosan Body Myopathy 1 Without Immunodeficiency

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Polyglucosan Body Myopathy 1 with or Without Immunodeficiency, also known as polyglucosan body myopathy type 1, is related to polyglucosan body myopathy 2 and immunodeficiency 57 with autoinflammation, and has symptoms including myalgia An important gene associated with Polyglucosan Body Myopathy 1 with or Without Immunodeficiency is RBCK1 (RANBP2-Type And C3HC4-Type Zinc Finger Containing 1), and among its related pathways/superpathways are p75 NTR receptor-mediated signalling and Toll-like receptor signaling pathway. Affiliated tissues include skeletal muscle and bone, and related phenotypes are scoliosis and ptosis

Related ID：

MALACARDS：PLY118

OMIM：615895

MESH：D009202