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

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• arrhythmogenic right ventricular cardiomyopathy type 12; familial arrhythmogenic right ventricular dysplasia type 12 (ARVC12, ARVD12)

Database

• OMIM: https://mirror.omim.org/entry/601214