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Naxos disease MeSH Supplementary Concept Data 2022


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
Registry Number
0
Heading Mapped to
*Hair Diseases
*Keratoderma, Palmoplantar
*Arrhythmogenic Right Ventricular Dysplasia
Frequency
23
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 Preferred
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