Charcot-Marie-Tooth Disease, Axonal, Type 2o (CMT2O)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2o

Cmt2o

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2o

Charcot-Marie-Tooth Neuropathy Axonal Type 2o

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2o

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2o

Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2o

Charcot-Marie-Tooth Neuropathy, Axonal, Type 2o

Charcot-Marie-Tooth Disease, Axonal, 2o

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2o, also known as charcot-marie-tooth disease axonal type 2o, is related to autosomal dominant intellectual developmental disorder 13 and autosomal dominant nonsyndromic deafness 77. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2o is DYNC1H1 (Dynein Cytoplasmic 1 Heavy Chain 1), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Cellular responses to stimuli. Affiliated tissues include brain and peripheral nerve, and related phenotypes are distal muscle weakness and pes cavus

Related ID：

MALACARDS：CHR668

OMIM：614228

MESH：D002607