Home Page

References

OMIM

Gene

GeneReviews

HGMD

HGNC

GENATLAS PHENOTYPE

last update : 03-12-2015

Symbol	CWS5
Location	3q26.32
Name	Cowden syndrome 5
Corresponding gene	PIK3CA
Main clinical features	hamartomatous polyps of the gastrointestinal tract, mucocutaneous lesions, and increased risk of developing neoplasms multiple hamartomatous lesions, especially of the skin, mucous membranes, breast and thyroid, are encountered; verrucous skin lesions of the face and limbs, cobblestone-like papules of the gingiva and buccal mucosa, and multiple facial
Genetic determination	not applicable
Function/system disorder	dermatology
	endocrinology
Type	disease

Remark(s)