Charcot-Marie-Tooth Disease, Axonal, Type 2z (CMT2Z)

Alias:

Charcot-Marie-Tooth Disease Axonal Type 2z

Cmt2z

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

Charcot-Marie-Tooth Neuropathy, Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Morc2 Mutation

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

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z

Charcot-Marie-Tooth Disease, Axonal, 2z

Charcot-Marie-Tooth Neuropathy Type 2z

Charcot-Marie-Tooth Disease, Type 2z

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2z, also known as charcot-marie-tooth disease axonal type 2z, is related to developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy and hereditary sensory neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2z is MORC2 (MORC Family CW-Type Zinc Finger 2), and among its related pathways/superpathways is Retrograde transport at the Trans-Golgi-Network. Affiliated tissues include spinal cord and tongue, and related phenotypes are reduced tendon reflexes and distal lower limb muscle weakness

Related ID：

MALACARDS：CHR617

OMIM：616688

MESH：D002607