Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 08-06-2018

Symbol	PC117
Location	17q21.2
Name	pachyonychia congenita, type 1
Other name(s)	Jadassohn-Lewandowsky type
Corresponding gene	KRT16
Other symbol(s)	PC1, POC1A, PCHC2A
Main clinical features	characterized by ectodermal dysplasia, dystrophic nails, oral leukokeratoses, palmoplantar keratoderma (hyperkeratosis), hyperhidrosis
Genetic determination	autosomal dominant
Function/system disorder	dermatology
Type	disease

Gene product

Name	keratin 16, type I (KRT16)

Remark(s)