ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

2 OMIM references -
2 associated genes
10 signs/symptoms

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Epidermolytic ichthyosis

DSP	(UniProt - OMIM)		KRT1	(UniProt - OMIM)
			KRT10	(UniProt - OMIM)


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

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Epidermolytic ichthyosis
	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): - BCIE - Bullous congenital ichthyosiform erythroderma - Bullous congenital ichthyosiform erythroderma of Brock - Bullous ichthyosis - EHK - EI - Epidermolytic hyperkeratosis

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

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

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Palmoplantar hyperkeratosis / keratoderma - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Epidermolytic ichthyosis
	Very frequent - Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Woolly / frizzy hair Occasional - Heart / cardiac failure		Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Ichthyosis / ichthyosiform dermatitis - Weight loss / loss of appetite / break in weight curve / general health alteration Frequent - Pigmented naevi / naevus pigmentosus / lentigo Occasional - Chronic skin infection / ulcerations / ulcers / cancrum - Follicular / conjunctival hamartomas