| H01250 | |
| H number | H01250 |
| Name | Hereditary gingival fibromatosis |
| Description | Hereditary gingival fibromatosis (GINGF) is a rare autosomal dominant overgrowth condition characterized by a benign, slowly progressive, nonhemorrhagic, fibrous enlargement of maxillary and mandibular keratinized gingiva. Four gene loci have been mapped for autosomal dominant GINGF. Although the molecular basis of GINGF remains largely unknown, a SOS1 gene mutation is identified. Recently, it has been reported that REST final-exon-truncating mutations cause GINGF. |
| Category | Digestive system disease |
| Network | - |
| Gene | (GINGF1) SOS1 [HSA:6654] [KO:K03099] (GINGF5) REST [HSA:5978] [KO:K09222] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: DA0D.1 ICD-10: K06.1 MeSH: D005351 OMIM: 135300 617626 |
| Reference | PMID:11868160 (SOS1) AUTHORS Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D TITLE A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. JOURNAL Am J Hum Genet 70:943-54 (2002) DOI:10.1086/339689 PMID:28686854 (REST) AUTHORS Bayram Y, White JJ, Elcioglu N, Cho MT, Zadeh N, Gedikbasi A, Palanduz S, Ozturk S, Cefle K, Kasapcopur O, Coban Akdemir Z, Pehlivan D, Begtrup A, Carvalho CMB, Paine IS, Mentes A, Bektas-Kayhan K, Karaca E, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR TITLE REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. JOURNAL Am J Hum Genet 101:149-156 (2017) DOI:10.1016/j.ajhg.2017.06.006 PMID:19633868 AUTHORS Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR TITLE Refinement of the GINGF3 locus for hereditary gingival fibromatosis. JOURNAL Eur J Pediatr 169:327-32 (2010) DOI:10.1007/s00431-009-1034-9 |