ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
2 associated genes
10 signs/symptoms

Epidermolytic palmoplantar keratoderma

Lethal acantholytic epidermolysis bullosa


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

Citations in the biomedical literature:

Epidermolytic palmoplantar keratoderma		Lethal acantholytic epidermolysis bullosa
	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): - LAEB

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		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

Epidermolytic palmoplantar keratoderma		Lethal acantholytic epidermolysis bullosa
	Very frequent - Autosomal dominant inheritance - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Palmoplantar hyperkeratosis / keratoderma - Warts / papillomas Frequent - Abnormal fingernails - Eczema - Hyperhidrosis / increased sweating		Very frequent - Absent / small fingernails / anonychia of hands - Alopecia - Autosomal recessive inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Early death / lethality - Enanthema / aphtosa / aphta / leukoplakia - Premature eruption of teeth / natal teeth - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Cardiomyopathy / hypertrophic / dilated - Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis