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GENATLAS PHENOTYPE

last update : 26-03-2010

Symbol	MLDD
Location	8q24.3
Name	Meleda disease
Other name(s)	Meleda disease keratosis palmoplantaris transgradiens of siemens
Corresponding gene	SLURP1
Other symbol(s)	MDM
Main clinical features	characterized by transgressive palmoplantar keratoderma, hyperhidrosis and perioral erythema congenital symmetrical cornification of the palms and soles, with ichthyotic changes elsewhere (relatively high frequency among inhabitants of the Island of Meleda, Dalmatia, Yugoslavia)
Genetic determination	autosomal recessive
Function/system disorder	dermatology
Type	disease

Gene product

Name	secreted Ly-6/uPAR related protein 1

Remark(s)