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Charcot-Marie-Tooth disease axonal type 2C

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.

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Disease Overview

Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.

Synonyms

  • CMT 2C
  • CMT2C
  • Charcot Marie Tooth disease type 2C
  • Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4
  • Charcot-Marie-Tooth disease type 2C
  • Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C
  • Charcot-Marie-Tooth disease, axonal, type 2C
  • Charcot-Marie-Tooth neuropathy type 2C
  • Charcot-Marie-Tooth neuropathy, type 2C
  • HMSN 2 C
  • HMSN 2C
  • HMSN2C
  • TRPV4 Charcot-Marie-Tooth disease type 2
  • autosomal cominant axonal Charcot-Marie-Tooth disease type 2C
  • autosomal dominant Charcot-Marie-Tooth disease type 2C
  • hereditary motor and sensory neuropathy 2 C
  • hereditary motor and sensory neuropathy type IIc
  • hereditary motor and sensory neuropathy, type 2C
  • hereditary motor and sensory neuropathy, type IIC
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).

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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.

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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.

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