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GENATLAS PHENOTYPE

last update : 24-08-2017

Symbol	GINGF5
Location	4q12
Name	gingival fibromatosis-5
Corresponding gene	REST
Main clinical features	benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues diastema, malposition of the teeth, and prolonged retention of primary teeth; onset is in the first decade
Genetic determination	autosomal dominant
Function/system disorder	digestive tract/liver and annex
Type	disease

Remark(s)

truncating mutations in REST may lead to overexpression of TGFB1 and IL6 that increase collagen type 1 synthesis in gingival tissue and results in GINGF5 (PMID: 28686854))