Naxos disease [Supplementary Concept]
A hereditary autosomal recessive disorder that combines palmoplantar keratoderma and other ectodermal features with cardiac disorders suggesting arrhythmogenic right ventricular dysplasia/cardiomyopathy (OMIM: 107970). It was first reported in families on the Greek island of Naxos. Mutations in the JUP gene have been identified. OMIM: 601214
Date introduced: August 25, 2010
MeSH Unique ID: C538346
Heading Mapped to:
Entry Terms:
- Mal de Naxos
- Keratosis palmoplantaris with arrhythmogenic cardiomyopathy
- Woolly hair, palmoplantar keratoderma, and cardiac abnormalities
- Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair