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Naxos disease

Synonyms
Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant; CARDIOMYOPATHY, ARRHYTHMOGENIC RIGHT VENTRICULAR, WITH SKIN, HAIR, AND NAIL ABNORMALITIES; KERATOSIS PALMOPLANTARIS WITH ARRHYTHMOGENIC CARDIOMYOPATHY; Keratosis palmoplantaris arrythmogenic cardiomyopathy woolly hair; Mal de Naxos; PALMOPLANTAR KERATODERMA WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY AND WOOLLY HAIR; WOOLLY HAIR, PALMOPLANTAR KERATODERMA, AND CARDIAC ABNORMALITIES; Woolly hair palmoplantar keratoderma cardiac abnormalities
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Naxos disease (NXD) is characterized by arrhythmogenic right ventricular cardiomyopathy associated with abnormalities of the skin, hair, and nails. The ectodermal features are evident from birth or early childhood, whereas the cardiac symptoms develop in young adulthood or later. Clinical variability of ectodermal features has been observed, with hair anomalies ranging from woolly hair to alopecia, and skin abnormalities ranging from mild focal palmoplantar keratoderma to generalized skin fragility or even lethal neonatal epidermolysis bullosa (Protonotarios et al., 1986; Cabral et al., 2010; Pigors et al., 2011; Erken et al., 2011; Sen-Chowdhry and McKenna, 2014). Another syndrome involving cardiomyopathy, woolly hair, and keratoderma (DCWHK; 605676) is caused by mutation in the desmoplakin gene (DSP; 125647). Also see 610476 for a similar disorder caused by homozygous mutation in the DSC2 gene (125645). [from OMIM]

Available tests

68 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (68 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CTNNG, DP3, DPIII, PDGB, PG, PKGB, JUP
    Summary: junction plakoglobin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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