ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
6 signs/symptoms

Epidermolytic palmoplantar keratoderma

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1	(0.78)	DSP

Citations in the biomedical literature:

Epidermolytic palmoplantar keratoderma		Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
	Synonym(s): - Diffuse erythrodermic palmoplantar keratoderma, Voerner type - Diffuse erythrodermic palmoplantar keratoderma, VÃ¶rner type - EPPK - Epidermolytic palmoplantar keratoderma of Voerner - Epidermolytic palmoplantar keratoderma of VÃ¶rner		Synonym(s): - Carvajal syndrome - Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome - Wooly hair - palmoplantar keratoderma - dilated cardiomyopathy - Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Palmoplantar hyperkeratosis / keratoderma

Epidermolytic palmoplantar keratoderma		Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Warts / papillomas Frequent - Abnormal fingernails - Eczema - Hyperhidrosis / increased sweating		Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Woolly / frizzy hair Occasional - Heart / cardiac failure - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment