Charcot-Marie-Tooth Disease, Axonal, Type 2r (CMT2R)

Alias:

Charcot-Marie-Tooth Disease Type 2r

Cmt2r

Charcot-Marie-Tooth Neuropathy, Type 2r

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2r

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2r

Autosomal Recessive Charcot-Marie-Tooth Disease Axonal Type 2r

Charcot-Marie-Tooth Neuropathy Axonal Type 2r

Charcot-Marie-Tooth Disease Axonal Type 2r

Charcot-Marie-Tooth Disease, Axonal, 2r

Charcot-Marie-Tooth Neuropathy Type 2r

Charcot-Marie-Tooth Disease, Type 2r

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2r, also known as charcot-marie-tooth disease type 2r, is related to charcot-marie-tooth disease, axonal, type 2a1 and charcot-marie-tooth disease intermediate type. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2r is TRIM2 (Tripartite Motif Containing 2), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include trachea and respiratory system-trachea, and related phenotypes are hypotonia and muscle weakness

Related ID：

MALACARDS：CHR671

OMIM：615490

MESH：D002607