| H01250 | |
| H番号 | H01250 |
| 名称 | 遺伝性歯肉増殖症 |
| 概要 | 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. |
| カテゴリ | 消化器系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (GINGF1) SOS1 [HSA:6654] [KO:K03099] (GINGF5) REST [HSA:5978] [KO:K09222] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: DA0D.1 ICD-10: K06.1 MeSH: D005351 OMIM: 135300 617626 |
| 文献 | PMID:11868160 (SOS1) 著者 Hart TC, Zhang Y, Gorry MC, Hart PS, Cooper M, Marazita ML, Marks JM, Cortelli JR, Pallos D タイトル A mutation in the SOS1 gene causes hereditary gingival fibromatosis type 1. 雑誌 Am J Hum Genet 70:943-54 (2002) DOI:10.1086/339689 PMID:28686854 (REST) 著者 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 タイトル REST Final-Exon-Truncating Mutations Cause Hereditary Gingival Fibromatosis. 雑誌 Am J Hum Genet 101:149-156 (2017) DOI:10.1016/j.ajhg.2017.06.006 PMID:19633868 著者 Pampel M, Maier S, Kreczy A, Weirich-Schwaiger H, Utermann G, Janecke AR タイトル Refinement of the GINGF3 locus for hereditary gingival fibromatosis. 雑誌 Eur J Pediatr 169:327-32 (2010) DOI:10.1007/s00431-009-1034-9 |