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GENATLAS PHENOTYPE

last update : 08-06-2018

Symbol	PC217
Location	17q21.2
Name	pachyonychia congenita type II
Other name(s)	Jackson-Lawler type incl. steatocystoma multiplex MIM184500
Corresponding gene	KRT17
Other symbol(s)	PC2, POC2; PCHCA
Main clinical features	hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts, palmoplantar keratoderma, with ectodermal dysplasia, hair abnormalities, corneal dystrophy and natal teeth steatocystoma multiplex and pachyonychia congenita must be considered to be at opposite ends of a phenotypic expression of the same basic disorder
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 17, type I (KRT17)

Remark(s)