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GTR Home > Conditions/Phenotypes > Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities

Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities

Summary

Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities (ARCME) is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Ventricular tachycardia, sustained or nonsustained, has been reported. In addition, some patients exhibit ectodermal manifestations including woolly or wiry hair, dental anomalies, dry skin, and/or dystrophic nails. Cleft lip and palate and corneal abnormalities have also been observed (Robinson et al., 2020; Henry et al., 2022). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ARCME, CMAEA, IASPP, NKIP1, RAI, RAI4, PPP1R13L
    Summary: protein phosphatase 1 regulatory subunit 13 like

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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