Charcot-Marie-Tooth Disease, Recessive Intermediate a (CMTRIA)

Alias:

Charcot-Marie-Tooth Disease Recessive Intermediate a

Ri-Cmta

Cmtria

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type a

Charcot-Marie-Tooth Neuropathy Recessive Intermediate a

Charcot-Marie-Tooth Disease, Recessive Intermediate, a

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate a

Ri-Cmt Type a

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Recessive Intermediate a, also known as charcot-marie-tooth disease recessive intermediate a, is related to charcot-marie-tooth disease, recessive intermediate c and charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate a is GDAP1 (Ganglioside Induced Differentiation Associated Protein 1), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include peripheral nerve, and related phenotypes are areflexia and peripheral neuropathy

Related ID：

MALACARDS：CHR658

OMIM：608340

MESH：C564256