KEGG DISEASE: エナメル質形成不全症

DISEASE: エナメル質形成不全症

エントリ

H00615

名称

エナメル質形成不全症

下位グループ

長胴歯を伴うエナメル質形成不全・未成熟 [DS:H00618]

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

階層分類

ICD-11 による疾患分類 [BR:jp08403]
20 発達異常
  主に1つの体系に影響する構造的発達異常
   顔面, 口腔または歯の構造的発達異常
    LA30  歯及び歯周組織の構造的発達異常
     H00615  エナメル質形成不全症
パスウェイに基づく疾患分類 [BR:jp08402]
細胞プロセス
  nt06548  インテグリンシグナリング
   H00615  エナメル質形成不全症

パスウェイ

hsa04151

PI3K-Akt signaling pathway

hsa04518

Integrin signaling

hsa04510

Focal adhesion

hsa04512

ECM-receptor interaction

ネットワーク

nt06548 Integrin signaling

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]

AI is classified as 4 patterns: hypoplastic, hypomaturation, hypocalcified, and hypomaturation-hypoplastic.

リンク

ICD-11:

LA30.6

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

文献

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

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