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arrhythmogenic cardiomyopathy with woolly hair and keratoderma

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description A cardioectodermal syndrome that is often associated with the gene DSP, encoding desmoplakin. Desmoplakin is a member of the plakin family of cell adhesion molecules that are responsible for the formation and maintenance of desmosomes. Variation in DSP is associated with cardiomyopathic manifestations that include: (1) seemingly isolated arrhythmogenic right ventricle cardiomyopathy (ARVC) that is atypical and can show left ventricle dominance, or be present in the left and right ventricle simultaneously; and (2) dilated cardiomyopathy. Cutaneous phenotypes including woolly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.
Uniprot Description An autosomal recessive cardiocutaneous syndrome characterized by a generalized striate keratoderma particularly affecting the palmoplantar epidermis, woolly hair, and dilated left ventricular cardiomyopathy.
Mondo Term and Equivalent IDs
MONDO:0011581:  arrhythmogenic cardiomyopathy with woolly hair and keratoderma
GARD:0005595: 
MESH:C535581: 
Orphanet:65282: 
SCTID:719835006: 
UMLS:C1854063: