Additional Resources

Section

Get Information about a Rare Disease

Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
* = NORD Rare Disease Report

Interested in exploring the database in detail?
Click here to explore the database in alphabetical order.

NORD Summit 2026 Banner Ad

Charcot-Marie-Tooth disease X-linked dominant 1

Download report (PDF)

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

Disease Overview

Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.

Synonyms

  • CMT1X
  • CMT2
  • CMT2, formerly
  • CMTX
  • CMTX 1
  • CMTX1
  • Charcot Marie Tooth disease X-linked 1
  • Charcot-Marie-Tooth disease X-linked dominant 1
  • Charcot-Marie-Tooth disease X-linked dominant type 1
  • Charcot-Marie-Tooth disease type X caused by mutation in GJB1
  • Charcot-Marie-Tooth disease, X-linked dominant, 1
  • Charcot-Marie-Tooth disease, X-linked dominant, type 1
  • Charcot-Marie-Tooth disease, X-linked, 1
  • Charcot-Marie-Tooth neuropathy X type 1
  • Charcot-Marie-Tooth neuropathy X-linked dominant 1
  • Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, X-linked dominant
  • Charcot-Marie-Tooth neuropathy, X-linked, 1
  • Charcot-Marie-Tooth peroneal muscular atrophy, X-linked
  • GJB1 Charcot-Marie-Tooth disease type X
  • HMSN, X-linked
  • X-linked Charcot-Marie-Tooth disease type 1
  • hereditary motor and sensory neuropathy, X-linked
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

View report
Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

View report
OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

View report
Sign Up for NORD News

Access State Report Card Data

Please complete this form to access the requested resource.

Please consider sharing some basic information with us.

Name(Required)
Consent(Required)
This field is hidden when viewing the form