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last update : 15-09-2017
Symbol DCWHK
Location 6p24.3
Name cardiomyopathy, dilated, with wooly hair and keratoderma
Other name(s)
  • palmoplantar hyperkeratoma (hyperkeratosis), striata 2R
  • Carvajal syndrome
  • Corresponding gene DSP
    Other symbol(s) PPKS2R
    Main clinical features
  • associated to woolly hair and a dilated left ventricular cardiomyopaphy, with arrythmia leading to precocious heart failure
  • Genetic determination autosomal recessive
    autosomal dominant
    Related entries including skin fragility wooly -hair syndrome, SFWHS (OMIM 607655 ), and erythrokeratodermia and cardiomyopathy (PMID: 26604139)
    Function/system disorder cardiovascular
    connective tissue
    Type disease
    Gene product
    Name desmoplakin (DSP) truncating mutation disrupting desmoplakin-intermediate filament interactions
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein 7901delG