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GENATLAS PHENOTYPE

last update : 17-11-2012

Symbol	PPPK1
Location	15q22-q24
Name	keratosis palmoplantaris papulosa 1
Other name(s)	punctate palmoplantar keratoderma, type I keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
Corresponding gene	AAGAB
Main clinical features	onset between ages 12 and 30 years, multiple tiny punctate keratoses over the entire palmoplantar surfaces, coalescence of the punctate keratoses into a more diffuse pattern over the pressure points of the sole, and variable nail changes
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Remark(s)

AAGAB deficiency may impair endocytic recycling of growth factor receptors such as EGFR, leading to increased signaling and cellular proliferation.(PMID: 23064416))