| H00615 | |
| H number | H00615 |
| Name | Amelogenesis imperfecta |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | (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] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | AI is classified as 4 patterns: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic. |
| Other DBs | 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 |
| Reference | PMID:3150442 AUTHORS Witkop CJ Jr TITLE Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. JOURNAL J Oral Pathol 17:547-53 (1988) DOI:10.1111/j.1600-0714.1988.tb01332.x PMID:16304440 AUTHORS Stephanopoulos G, Garefalaki ME, Lyroudia K TITLE Genes and related proteins involved in amelogenesis imperfecta. JOURNAL J Dent Res 84:1117-26 (2005) DOI:10.1177/154405910508401206 PMID:17408482 AUTHORS Crawford PJ, Aldred M, Bloch-Zupan A TITLE Amelogenesis imperfecta. JOURNAL Orphanet J Rare Dis 2:17 (2007) DOI:10.1186/1750-1172-2-17 PMID:20640366 AUTHORS Canger EM, Celenk P, Yenisey M, Odyakmaz SZ TITLE Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report. JOURNAL Braz Dent J 21:170-4 (2010) DOI:10.1590/s0103-64402010000200014 PMID:23958762 (AI1A) AUTHORS Kim JW, Seymen F, Lee KE, Ko J, Yildirim M, Tuna EB, Gencay K, Shin TJ, Kyun HK, Simmer JP, Hu JC TITLE LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. JOURNAL J Dent Res 92:899-904 (2013) DOI:10.1177/0022034513502054 PMID:11487571 (AI1B) AUTHORS Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ TITLE Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta. JOURNAL Hum Mol Genet 10:1673-7 (2001) DOI:10.1093/hmg/10.16.1673 PMID:14684688 (AI1C) AUTHORS Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E TITLE Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. JOURNAL J Med Genet 40:900-6 (2003) DOI:10.1136/jmg.40.12.900 PMID:1916828 (AI1E) AUTHORS Lagerstrom M, Dahl N, Nakahori Y, Nakagome Y, Backman B, Landegren U, Pettersson U TITLE A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1). JOURNAL Genomics 10:971-5 (1991) DOI:10.1016/0888-7543(91)90187-j PMID:24858907 (AI1F) AUTHORS Poulter JA, Murillo G, Brookes SJ, Smith CE, Parry DA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ TITLE Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. JOURNAL Hum Mol Genet 23:5317-24 (2014) DOI:10.1093/hmg/ddu247 PMID:21990045 (AI1G) AUTHORS 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 TITLE Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. JOURNAL Hum Mutat 33:91-4 (2012) DOI:10.1002/humu.21621 PMID:24319098 (AI1H) AUTHORS Poulter JA, Brookes SJ, Shore RC, Smith CE, Abi Farraj L, Kirkham J, Inglehearn CF, Mighell AJ TITLE A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. JOURNAL Hum Mol Genet 23:2189-97 (2014) DOI:10.1093/hmg/ddt616 PMID:27843125 (AI1J) AUTHORS 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 TITLE Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. JOURNAL Am J Hum Genet 99:1199-1205 (2016) DOI:10.1016/j.ajhg.2016.09.018 PMID:32167558 (AI1K) AUTHORS Smith CEL, Whitehouse LLE, Poulter JA, Wilkinson Hewitt L, Nadat F, Jackson BR, Manfield IW, Edwards TA, Rodd HD, Inglehearn CF, Mighell AJ TITLE A missense variant in specificity protein 6 (SP6) is associated with amelogenesis imperfecta. JOURNAL Hum Mol Genet 29:1417-1425 (2020) DOI:10.1093/hmg/ddaa041 PMID:15235027 (AI2A1) AUTHORS Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT TITLE Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. JOURNAL J Med Genet 41:545-9 (2004) DOI:10.1136/jmg.2003.017657 PMID:15744043 (AI2A2) AUTHORS Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC TITLE MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. JOURNAL J Med Genet 42:271-5 (2005) DOI:10.1136/jmg.2004.024505 PMID:19853237 (AI2A3) AUTHORS 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 TITLE Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. JOURNAL Am J Hum Genet 85:699-705 (2009) DOI:10.1016/j.ajhg.2009.09.014 PMID:22901946 (AI2A4) AUTHORS 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 TITLE Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. JOURNAL Am J Hum Genet 91:565-71 (2012) DOI:10.1016/j.ajhg.2012.07.020 PMID:23375655 (AI2A5) AUTHORS Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ TITLE Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. JOURNAL Am J Hum Genet 92:307-12 (2013) DOI:10.1016/j.ajhg.2013.01.003 PMID:27693231 (AI2A6) AUTHORS 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 TITLE Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. JOURNAL Am J Hum Genet 99:984-990 (2016) DOI:10.1016/j.ajhg.2016.08.020 PMID:18252228 (AI3A) AUTHORS Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP TITLE FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. JOURNAL Am J Hum Genet 82:489-94 (2008) DOI:10.1016/j.ajhg.2007.09.020 PMID:27412008 (AI3B) AUTHORS Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ TITLE Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. JOURNAL Hum Mol Genet 25:3578-3587 (2016) DOI:10.1093/hmg/ddw203 PMID:30506946 (AI3C) AUTHORS 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 TITLE Mutations in RELT cause autosomal recessive amelogenesis imperfecta. JOURNAL Clin Genet 95:375-383 (2019) DOI:10.1111/cge.13487 |