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Naxos disease
Genetics:
- autosomal recessive
- associated with defects in gamma-catenin (JUP)
Clinical manifestations:
- diffuse non-epidermolytic palmoplantar keratoderma
- arrhythmogenic right ventricular dysplasia/cardiomyopathy
- woolly hair
Related
arrhythmogenic right ventricular cardiomyopathy type 12; familial arrhythmogenic right ventricular dysplasia type 12 (ARVC12, ARVD12)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 601214
References
UniProt :accession P14923