ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
2 associated genes
10 signs/symptoms

Epidermolytic palmoplantar keratoderma

Epidermolysis bullosa simplex with mottled pigmentation


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT1	(0.52)	KRT5

Citations in the biomedical literature:

Epidermolytic palmoplantar keratoderma		Epidermolysis bullosa simplex with mottled pigmentation
	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): - EBS-MP

	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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535959


COMMON SIGNS	- Abnormal fingernails - Autosomal dominant inheritance - Palmoplantar hyperkeratosis / keratoderma

Epidermolytic palmoplantar keratoderma		Epidermolysis bullosa simplex with mottled pigmentation
	Very frequent - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Warts / papillomas Frequent - Eczema - Hyperhidrosis / increased sweating		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Follicular / erythematous / edematous papules / milium - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Bruisability - Nails anomalies - Premature ageing