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GENATLAS PHENOTYPE

last update : 21-01-2009

Symbol	PSEK1
Location	1q21.3
Name	progressive symetric erythrokeratoderma 1
Corresponding gene	LOR
Main clinical features	widespread erythematous plaques, either stationary or migratory, associated with features that include palmoplantar keratodermia non migratory erythematous plaques shortly after birth and distributed symmetrically over the body, particularly on the extremities, the buttocks, and sometimes the face, together with palmoplantar keratodermia
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	loricrin, major component of epidermal differential-complex (LOR)

Remark(s)