MeSH Browser

MeSH Supplementary: Naxos disease
Unique ID: C538346
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C538346
Entry Term(s): Keratosis palmoplantaris with arrhythmogenic cardiomyopathy; Mal de Naxos; Palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair; Woolly hair, palmoplantar keratoderma, and cardiac abnormalities
Heading Mapped to: *Hair Diseases; *Keratoderma, Palmoplantar; *Arrhythmogenic Right Ventricular Dysplasia
Frequency: 24
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/09/27

Naxos disease MeSH Supplementary Concept Data 2024