Charcot-Marie-Tooth Disease, Axonal, Type 2b2 (CMT2B2)

Alias:

Charcot-Marie-Tooth Disease Type 2b2

Charcot-Marie-Tooth Disease, Type 2b2

Arcmt2b

Cmt2b2

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2

Charcot-Marie-Tooth Disease Neuronal Type 2b2

Charcot-Marie-Tooth Neuropathy Type 2b2

Autosomal Recessive Axonal Cmt4c3

Ar-Cmt2b2

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2

Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2

Charcot-Marie-Tooth Disease, Neuronal, Type 2b2

Charcot-Marie-Tooth Disease Axonal Type 2b2

Charcot-Marie-Tooth Neuropathy, Type 2b2

Charcot-Marie-Tooth Disease, Axonal, 2b2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Axonal, Type 2b2, also known as charcot-marie-tooth disease type 2b2, is related to sensory peripheral neuropathy and hereditary sensory neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2b2 is PNKP (Polynucleotide Kinase 3'-Phosphatase), and among its related pathways/superpathways are DNA damage_NHEJ mechanisms of DSBs repair and Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include eye, and related phenotypes are areflexia and hyporeflexia

Related ID：

MALACARDS：CHR651

OMIM：605589

MESH：C537991