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GENATLAS PHENOTYPE

last update : 04/10/2008

Symbol	EBSMP
Location	12q13.2-q13.3
Name	epidermolysis bullosa simplex with mottled pigmentation
Corresponding gene	KRT5
Other symbol(s)	EBS-MP
Main clinical features	speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering congenital mottled appearance of the skin ultrastructurally, the blistering in EBS with mottled pigmentation closely resembles that found in other EBS subtype
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 5, type II (KRT5)

Remark(s)