Charcot-Marie-Tooth Disease, Axonal, Type 2a1 (CMT2A1)

Alias:

Cmt2a1

Charcot-Marie-Tooth Disease Type 2a1

Hereditary Motor and Sensory Neuropathy Iia1

Charcot-Marie-Tooth Disease, Type 2a1

Hmsn Iia1

Hmsn2a1

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1

Charcot-Marie-Tooth Disease Neuronal Type 2a1

Charcot-Marie-Tooth Neuropathy Type 2a1

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1

Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1

Charcot-Marie-Tooth Disease, Neuronal, Type 2a1

Charcot-Marie-Tooth Disease Axonal Type 2a1

Charcot-Marie-Tooth Neuropathy, Type 2a1

Charcot-Marie-Tooth Disease, Axonal, 2a1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2a1, also known as cmt2a1, is related to charcot-marie-tooth disease, axonal, type 2j and neuromyotonia and axonal neuropathy, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2a1 is KIF1B (Kinesin Family Member 1B), and among its related pathways/superpathways are Golgi-to-ER retrograde transport and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include spinal cord, and related phenotypes are distal amyotrophy and peripheral axonal neuropathy

Related ID：

MALACARDS：CHR626

OMIM：118210

MESH：D002607