ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
10 signs/symptoms

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome

Lethal acantholytic epidermolysis bullosa

DSP	(UniProt - OMIM)		DSP	(UniProt - OMIM)
			JUP	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DSP	(0.89)	JUP

Citations in the biomedical literature:

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Lethal acantholytic epidermolysis bullosa
	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): - LAEB

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535493


COMMON SIGNS	- Autosomal recessive inheritance - Cardiomyopathy / hypertrophic / dilated - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome		Lethal acantholytic epidermolysis bullosa
	Very frequent - Palmoplantar hyperkeratosis / keratoderma - Woolly / frizzy hair Occasional - Heart / cardiac failure		Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Premature eruption of teeth / natal teeth Occasional - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis