ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 2

1 OMIM reference -
6 associated genes
No signs/symptoms info

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Progressive non-fluent aphasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP DSP	(0.73) (0.49)	VCP PSEN1

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Progressive non-fluent aphasia
	Synonym(s): - Carvajal syndrome - Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome - Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy - Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome		Synonym(s): - Agramatic variant of PPA - Agramatic variant of primary progressive aphasia - Non-fluent variant PPA

	Classification (Orphanet): - Rare cardiac disease - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: - Type of inheritance: multigenic/multifactorial

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D057178

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
	Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Occasional - Heart / cardiac failure - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment
Progressive non-fluent aphasia
(no data available)