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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

40 tests are in the database for this condition.

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Clinical tests (40 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

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Imported from Human Phenotype Ontology (HPO)

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