Charcot-Marie-Tooth Disease, Axonal, Type 2q (CMT2Q)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2q

Cmt2q

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2q

Charcot-Marie-Tooth Neuropathy, Type 2q

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

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

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

Charcot-Marie-Tooth Neuropathy Axonal Type 2q

Charcot-Marie-Tooth Disease, Axonal, 2q

Charcot-Marie-Tooth Neuropathy Type 2q

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2q, also known as charcot-marie-tooth disease axonal type 2q, is related to charcot-marie-tooth disease and deafness and charcot-marie-tooth disease. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2q is DHTKD1 (Dehydrogenase E1 And Transketolase Domain Containing 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and glycolysis (BioCyc). Affiliated tissues include skeletal muscle, and related phenotypes are skeletal muscle atrophy and pes cavus

Related ID：

MALACARDS：CHR489

OMIM：615025

MESH：D002607