U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease type 1F

Charcot-Marie-Tooth disease type 1F

Synonyms
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1F; CMT 1F; Charcot-Marie-Tooth Neuropathy Type 1F/2E; Charcot-Marie-Tooth disease, demyelinating, type 1f
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A form of Charcot-Marie-Tooth disease type 1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. The disease has characteristics of progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. Caused by mutations in the NEFL gene (8p21.2). [from SNOMEDCT_US]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110, NEFL
    Summary: neurofilament light chain

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.