Naxos Disease (NXD)

Alias:

Keratosis Palmoplantaris with Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma with Arrhythmogenic Right Ventricular Cardiomyopathy and Woolly Hair

Cardiomyopathy, Arrhythmogenic Right Ventricular, with Skin, Hair, and Nail Abnormalities

Woolly Hair, Palmoplantar Keratoderma, and Cardiac Abnormalities

Palmoplantar Hyperkeratosis with Arrythmogenic Cardiomyopathy

Palmoplantar Keratoderma with Arrythmogenic Cardiomyopathy

Keratoderma with Woolly Hair Type I

Mal De Naxos

Kwwh Type I

Nxd

Keratosis Palmoplantaris with Arrhythmogenic Cardiomyopathy

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Naxos Disease, also known as keratosis palmoplantaris with arrythmogenic cardiomyopathy, is related to syncope and progressive familial heart block. An important gene associated with Naxos Disease is JUP (Junction Plakoglobin), and among its related pathways/superpathways are Nervous system development and DREAM Repression and Dynorphin Expression. Affiliated tissues include skin and heart, and related phenotypes are palmoplantar keratoderma and vertigo

Related ID：

MALACARDS：NXS001

OMIM：601214

MESH：C538346