ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
4 associated genes
8 signs/symptoms

Congenital factor XII deficiency

Epidermolytic palmoplantar keratoderma


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	F12	(0.52)	KRT1

Citations in the biomedical literature:

Congenital factor XII deficiency		Epidermolytic palmoplantar keratoderma
	Synonym(s): - Congenital Hageman factor deficiency		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

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

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

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

Epidermolytic palmoplantar keratoderma
	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
Congenital factor XII deficiency
(no data available)