| H00615 | |
| H番号 | H00615 |
| 名称 | エナメル質形成不全症 |
| 概要 | Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders characterized by very thin dental enamel. Defects in mineralization or matrix formation during tooth development lead to enamel hypoplasia and/or hypomineralization. Mutations in several tooth-specific genes are associated with the disease. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (AI1A) LAMB3 [HSA:3914] [KO:K06244] (AI1B/C) ENAM [HSA:10117] [KO:K23444] (AI1E) AMELX [HSA:265] [KO:K23443] (AI1F) AMBN [HSA:258] [KO:K23442] (AI1G) FAM20A [HSA:54757] [KO:K21957] (AI1H) ITGB6 [HSA:3694] [KO:K06589] (AI1J) ACP4 [HSA:93650] [KO:K19284] (AI1K) SP6 [HSA:80320] [KO:K09196] (AI2A1) KLK4 [HSA:9622] [KO:K08666] (AI2A2) MMP20 [HSA:9313] [KO:K07999] (AI2A3) WDR72 [HSA:256764] [KO:K24753] (AI2A4) ODAPH [HSA:152816] [KO:K24398] (AI2A5) SLC24A4 [HSA:123041] [KO:K13752] (AI2A6) GPR68 [HSA:8111] [KO:K08408] (AI3A) FAM83H [HSA:286077] [KO:K23931] (AI3B) AMTN [HSA:401138] [KO:K25225] (AI3C) RELT [HSA:84957] [KO:K05156] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | AI is classified as 4 patterns: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic. |
| リンク | ICD-11: LA30.6 ICD-10: K00.5 MeSH: D000567 OMIM: 104530 104500 204650 301200 616270 204690 616221 617297 620104 204700 612529 613211 614832 615887 617217 130900 617607 618386 |
| 文献 | PMID:3150442 著者 Witkop CJ Jr タイトル Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. 雑誌 J Oral Pathol 17:547-53 (1988) DOI:10.1111/j.1600-0714.1988.tb01332.x PMID:16304440 著者 Stephanopoulos G, Garefalaki ME, Lyroudia K タイトル Genes and related proteins involved in amelogenesis imperfecta. 雑誌 J Dent Res 84:1117-26 (2005) DOI:10.1177/154405910508401206 PMID:17408482 著者 Crawford PJ, Aldred M, Bloch-Zupan A タイトル Amelogenesis imperfecta. 雑誌 Orphanet J Rare Dis 2:17 (2007) DOI:10.1186/1750-1172-2-17 PMID:20640366 著者 Canger EM, Celenk P, Yenisey M, Odyakmaz SZ タイトル Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report. 雑誌 Braz Dent J 21:170-4 (2010) DOI:10.1590/s0103-64402010000200014 PMID:23958762 (AI1A) 著者 Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC タイトル LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. 雑誌 J Dent Res 92:899-904 (2013) DOI:10.1177/0022034513502054 PMID:11487571 (AI1B) 著者 Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ タイトル Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. 雑誌 Hum Mol Genet 10:1673-7 (2001) DOI:10.1093/hmg/10.16.1673 PMID:14684688 (AI1C) 著者 Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E タイトル Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. 雑誌 J Med Genet 40:900-6 (2003) DOI:10.1136/jmg.40.12.900 PMID:1916828 (AI1E) 著者 Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U タイトル A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). 雑誌 Genomics 10:971-5 (1991) DOI:10.1016/0888-7543(91)90187-j PMID:24858907 (AI1F) 著者 Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ タイトル Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. 雑誌 Hum Mol Genet 23:5317-24 (2014) DOI:10.1093/hmg/ddu247 PMID:21990045 (AI1G) 著者 Cho SH, Seymen F, Lee KE, Lee SK, Kweon YS, Kim KJ, Jung SE, Song SJ, Yildirim M, Bayram M, Tuna EB, Gencay K, Kim JW タイトル Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. 雑誌 Hum Mutat 33:91-4 (2012) DOI:10.1002/humu.21621 PMID:24319098 (AI1H) 著者 Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ タイトル A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. 雑誌 Hum Mol Genet 23:2189-97 (2014) DOI:10.1093/hmg/ddt616 PMID:27843125 (AI1J) 著者 Seymen F, Kim YJ, Lee YJ, Kang J, Kim TH, Choi H, Koruyucu M, Kasimoglu Y, Tuna EB, Gencay K, Shin TJ, Hyun HK, Kim YJ, Lee SH, Lee ZH, Zhang H, Hu JC, Simmer JP, Cho ES, Kim JW タイトル Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. 雑誌 Am J Hum Genet 99:1199-1205 (2016) DOI:10.1016/j.ajhg.2016.09.018 PMID:32167558 (AI1K) 著者 Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, Mighell AJ タイトル A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. 雑誌 Hum Mol Genet 29:1417-1425 (2020) DOI:10.1093/hmg/ddaa041 PMID:15235027 (AI2A1) 著者 Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT タイトル Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. 雑誌 J Med Genet 41:545-9 (2004) DOI:10.1136/jmg.2003.017657 PMID:15744043 (AI2A2) 著者 Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC タイトル MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. 雑誌 J Med Genet 42:271-5 (2005) DOI:10.1136/jmg.2004.024505 PMID:19853237 (AI2A3) 著者 El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ タイトル Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. 雑誌 Am J Hum Genet 85:699-705 (2009) DOI:10.1016/j.ajhg.2009.09.014 PMID:22901946 (AI2A4) 著者 Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, Raif el M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ タイトル Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. 雑誌 Am J Hum Genet 91:565-71 (2012) DOI:10.1016/j.ajhg.2012.07.020 PMID:23375655 (AI2A5) 著者 Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ タイトル Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. 雑誌 Am J Hum Genet 92:307-12 (2013) DOI:10.1016/j.ajhg.2013.01.003 PMID:27693231 (AI2A6) 著者 Parry DA, Smith CE, El-Sayed W, Poulter JA, Shore RC, Logan CV, Mogi C, Sato K, Okajima F, Harada A, Zhang H, Koruyucu M, Seymen F, Hu JC, Simmer JP, Ahmed M, Jafri H, Johnson CA, Inglehearn CF, Mighell AJ タイトル Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. 雑誌 Am J Hum Genet 99:984-990 (2016) DOI:10.1016/j.ajhg.2016.08.020 PMID:18252228 (AI3A) 著者 Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP タイトル FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. 雑誌 Am J Hum Genet 82:489-94 (2008) DOI:10.1016/j.ajhg.2007.09.020 PMID:27412008 (AI3B) 著者 Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ タイトル Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. 雑誌 Hum Mol Genet 25:3578-3587 (2016) DOI:10.1093/hmg/ddw203 PMID:30506946 (AI3C) 著者 Kim JW, Zhang H, Seymen F, Koruyucu M, Hu Y, Kang J, Kim YJ, Ikeda A, Kasimoglu Y, Bayram M, Zhang C, Kawasaki K, Bartlett JD, Saunders TL, Simmer JP, Hu JC タイトル Mutations in RELT cause autosomal recessive amelogenesis imperfecta. 雑誌 Clin Genet 95:375-383 (2019) DOI:10.1111/cge.13487 |