Charcot-Marie-Tooth Disease, Recessive Intermediate C (CMTRIC)

Alias:

Charcot-Marie-Tooth Disease Recessive Intermediate C

Ri-Cmtc

Cmtric

Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Type C

Ri-Cmt Type C

Charcot-Marie-Tooth Neuropathy, Recessive Intermediate C

Charcot-Marie-Tooth Neuropathy Recessive Intermediate C

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Recessive Intermediate C, also known as charcot-marie-tooth disease recessive intermediate c, is related to charcot-marie-tooth disease, axonal, type 2h and juvenile amyotrophic lateral sclerosis. An important gene associated with Charcot-Marie-Tooth Disease, Recessive Intermediate C is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Affiliated tissues include peripheral nerve, and related phenotypes are scoliosis and areflexia

Related ID：

MALACARDS：CHR480

OMIM：615376

MESH：D002607