Charcot-Marie-Tooth Disease, Dominant Intermediate E (CMTDIE)

Charcot-Marie-Tooth Disease, Dominant Intermediate E(来自ICD-11)

别称:

Charcot-Marie-Tooth Disease Dominant Intermediate E

Cmtdie

Charcot-Marie-Tooth Neuropathy with Focal Segmental Glomerulonephritis

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Charcot-Marie-Tooth Disease-Nephropathy Syndrome

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

加入收藏

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Charcot-Marie-Tooth Disease, Dominant Intermediate E, also known as charcot-marie-tooth disease dominant intermediate e, is related to hereditary sensory neuropathy and charcot-marie-tooth disease intermediate type. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate E is INF2 (Inverted Formin 2), and among its related pathways/superpathways is Intracellular trafficking proteins involved in CMT neuropathy. Affiliated tissues include kidney, and related phenotypes are proteinuria and areflexia

查看原文参与反馈