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GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease axonal type 2N

Charcot-Marie-Tooth disease axonal type 2N

Synonyms
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2N; CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2N; Charcot-Marie-Tooth Neuropathy Type 2N; Charcot-Marie-Tooth disease, type 2N
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with characteristics of distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow. [from SNOMEDCT_US]

Available tests

32 tests are in the database for this condition.

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Clinical tests (32 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AARS, CMT2N, DEE29, EIEE29, HDLS2, TTD8, AARS1
    Summary: alanyl-tRNA synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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