arrhythmogenic cardiomyopathy with wooly hair and keratoderma
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 wooly hair and/or keratoderma can present along with the cardiomyopathy, but are noted as less penetrant features.
MONDO:0016337
obsolete syndrome associated with dilated cardiomyopathy (obsolete MONDO:0016337)
excluded_subClassOf
MONDO:0017672
focal palmoplantar keratoderma
excluded_subClassOf
MONDO:0018558
obsolete syndrome with wooly hair (obsolete MONDO:0018558)
excluded_subClassOf
MONDO:0019287
ectodermal dysplasia syndrome
is_a
MONDO:0100080
cardioectodermal syndrome
is_a
Carvajal syndrome
exact
DCWHK
exact
KWWH type II
exact
arrhythmogenic cardiomyopathy with wooly hair and keratoderma
exact
cardiomyopathy dilated with woolly hair and keratoderma
related
cardiomyopathy dilated with wooly hair and keratoderma
related
cardiomyopathy, dilated, with woolly hair and keratoderma
related
cardiomyopathy, dilated, with wooly hair and keratoderma
related
dilated cardiomyopathy with wooly hair and keratoderma
exact
epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy
related
epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy
related
keratoderma with woolly hair type II
exact
keratoderma with wooly hair type II
exact
palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair
exact
palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair
exact
woolly hair - palmoplantar keratoderma - dilated cardiomyopathy
related
woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome
related
woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
exact
woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
exact
wooly hair - palmoplantar keratoderma - dilated cardiomyopathy
related
wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome
related
wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
exact
wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
exact