Details of Disease

General Information of Disease (ID: DISQEDXZ)

• Disease Name: Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• Synonyms: cardiomyopathy, dilated, with woolly hair and keratoderma; epidermolytic palmoplantar keratoderma wooly hair and dilated cardiomyopathy; cardiomyopathy, dilated, with wooly hair and keratoderma; woolly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome; cardiomyopathy dilated with wooly hair and keratoderma; wooly hair - palmoplantar keratoderma - dilated cardiomyopathy syndrome; wooly hair - palmoplantar keratoderma - dilated cardiomyopathy; epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; cardiomyopathy dilated with woolly hair and keratoderma; woolly hair - palmoplantar keratoderma - dilated cardiomyopathy; DCWHK; wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome; KWWH type II; keratoderma with wooly hair type II; dilated cardiomyopathy with woolly hair and keratoderma; arrhythmogenic cardiomyopathy with wooly hair and keratoderma; palmoplantar keratoderma with left ventricular cardiomyopathy and wooly hair; wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome; keratoderma with woolly hair type II; Carvajal syndrome; dilated cardiomyopathy with wooly hair and keratoderma
• Definition: 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.
• Disease Hierarchy:
  DIS8XBKN: Cardioectodermal syndrome
  DISLRS4M: Ectodermal dysplasia
  DISQEDXZ: Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
• Disease Identifiers:
  MONDO ID: MONDO_0011581
  MESH ID: C535581
  UMLS CUI: C1854063
  OMIM ID: 605676
  MedGen ID: 340124
  Orphanet ID: 65282
  SNOMED CT ID: 719835006

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSP	OTB2MOP8	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.