OrphanDrug
OrphanDrug
Pharma Knowledge Base

Charcot-Marie-Tooth disease type 2J

MeSH: C535417ORPHA: 99943

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Classification & Codes

Overview

Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Classification & Codes

MeSH Code

C535417

Orphanet Code

ORPHA:99943
Charcot-Marie-Tooth disease type 2J
MeSHC535417
OrphanetORPHA:99943
Treatments0 drug(s)
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
Charcot-Marie-Tooth disease type 2J | OrphanDrug