Preferred Label : Fibromatosis, gingival, 1;
Symbol : GINGF1;
CISMeF acronym : GGF1; GINGF; GINGF1; HGF;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : GINGF; Fibromatosis, gingival, hereditary; HGF; GGF1;
Description : Gingival fibromatosis is a rare overgrowth condition characterized by a benign, slowly
progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized
gingiva (summary by Hart et al., 2002). - Genetic Heterogeneity of Hereditary Gingival
Fibromatosis Other loci for gingival fibromatosis have been mapped to chromosome 5q
(GINGF2; 605544), chromosome 2p23.3-p22.3 (GINGF3; 609955), and chromosome 11p15 (GINGF4;
611010). There is some evidence for a locus on chromosome 2p16-p13 (see MAPPING).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the SOS Ras/Rac guanine nucleotide exchange factor 1 gene (SOS1,
182530.0001);
Prefixed ID : #135300;
Origin ID : 135300;
UMLS CUI : C4551558;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)