Naxos disease

Summary
Definition
A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21.
Super Class
nonepidermolytic palmoplantar keratoderma
Disease Ontology
DOID:0080551
Mondo Disease Ontology
MeSH
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3728 JUP junction plakoglobin
Displaying 1 entry
Gene ID Gene Symbol Description Source
16480 Jup junction plakoglobin
Displaying 1 entry
Gene ID Gene Symbol Description Source
81679 Jup junction plakoglobin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024