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

Charcot-Marie-Tooth disease type 1E

Synonyms
CMT 1E; Charcot-Marie-Tooth Neuropathy Type 1E; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease, demyelinating, Type 1E; Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the <i>PMP22</i> (17p12) gene. The disease severity depends on the particular <i>PMP22</i> mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients. [from ORDO]

Available tests

53 tests are in the database for this condition.

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Clinical tests (53 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CIDP, CMT1A, CMT1E, DSS, GAS-3, GAS3, HMSNIA, HNPP, Sp110, PMP22
    Summary: peripheral myelin protein 22

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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