Features include always present findings: Decreased compound muscle action potential amplitude and Peripheral neuropathy; and common findings: Distal amyotrophy, Foot dorsiflexor weakness, Weakness of the intrinsic hand muscles, and Impaired distal vibration sensation. 23 total HPO annotations.

CADM3 encodes cell adhesion molecule 3 (398 aa). Involved in cell-cell adhesion. Has both calcium-independent homophilic cell-cell adhesion activity and calcium-independent heterophilic cell-cell adhesion activity with IGSF4, NECTIN1 and NECTIN3. Highest expression in Brain Cerebellar Hemisphere (580.4 TPM) and Brain Cerebellum (540.3 TPM).

Charcot-Marie-Tooth disease, axonal, type 2FF is associated with mutations in the CADM3 gene on chromosome 1.

CADM3 is classified as a druggable target (Druggable Genome category) with score 0.0.

Genetic testing for CADM3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Charcot-Marie-Tooth disease, axonal, type 2FF has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 4 common features.

4 clinical trials registered, 2 recruiting. Interventions under study include other interventions and drug therapy. Pipeline includes 1 PHASE1, 1 NA. Research is primarily sponsored by academic and government institutions.

29 publications have been identified in PubMed for Charcot-Marie-Tooth disease, axonal, type 2FF. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (17%), and Other (10%).